Abstract
Renal agenesis is the complete absence of one or both kidneys commonly accompanied by other malformations of the genitourinary tract and various lower body defects. PAX2, one of the earliest genes expressed widely during fetal kidney development in the nephric duct, the metanephric mesenchyme, the ureteric bud, and the S-shaped body, is important for the development of the kidney. In renal agenesis, the corresponding ureter and vesical trigone are usually absent. Usually it is sporadic, but it may occur as an autosomal-dominant trait with variable expression. Unilateral agenesis is more common and may be accompanied by ipsilateral anomalies of mesonephric or paramesonephric duct derivatives, including the absence of epididymis, vas deferens, and ejaculatory duct in males and the absence of uterine horn, fallopian tube, and ovary in females.
Keywords
- Lupus Nephritis
- Autosomal Dominant Polycystic Kidney Disease
- Renal Agenesis
- Renal Dysplasia
- Autosomal Recessive Polycystic Kidney Disease
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Appendices
Appendix 1: Kidney Weights, Left and Right, Male and Female, From 1 Day to 19 Years of Age
Age | Right kidney | Left kidney | ||||||
---|---|---|---|---|---|---|---|---|
n | Mean + confidence limits p ≤ 0.95 | n | Mean + confidence limits p > 0.95 | |||||
Males | ||||||||
1 days | 662 | 7.1 | 7.5 | 7.9 | 662 | 7.3 | 7.7 | 8.1 |
2–30 days | 137 | 14.6 | 16.2 | 17.8 | 137 | 14.4 | 15.9 | 17.5 |
31–60 days | 110 | 60.0 | 17.4 | 18.8 | 110 | 15.9 | 17.4 | 18.8 |
61–90 days | 93 | 17.7 | 19.4 | 21.1 | 93 | 18.0 | 19.8 | 21.5 |
91–120 days | 87 | 19.6 | 21.5 | 23.4 | 87 | 19.5 | 21.3 | 23.0 |
121–150 days | 74 | 19.6 | 21.8 | 24.1 | 74 | 20.4 | 22.7 | 25.0 |
151–180 days | 56 | 20.9 | 23.8 | 26.6 | 56 | 21.3 | 23.5 | 25.6 |
1 year | 62 | 29.0 | 31.9 | 34.8 | 62 | 29.8 | 33.6 | 37.4 |
2 years | 70 | 40.6 | 45.7 | 50.9 | 73 | 42.2 | 47.3 | 52.5 |
3 years | 65 | 47.7 | 53.2 | 58.7 | 65 | 49.5 | 55.0 | 60.5 |
4 years | 37 | 47.9 | 53.8 | 59.8 | 37 | 50.7 | 55.9 | 61.1 |
5 years | 45 | 51.0 | 56.1 | 61.2 | 45 | 52.6 | 57.6 | 62.7 |
6 years | 40 | 59.5 | 69.4 | 79.3 | 10 | 62.4 | 72.3 | 82.1 |
7 years | 27 | 59.6 | 68.4 | 77.1 | 27 | 59.9 | 67.8 | 75.7 |
8 years | 38 | 66.9 | 76.3 | 85.8 | 38 | 68.2 | 77.7 | 87.1 |
9 years | 29 | 68.7 | 78.7 | 88.6 | 29 | 70.1 | 80.7 | 91.3 |
10 years | 40 | 76.7 | 87.2 | 97.7 | 41 | 80.3 | 91.2 | 102.2 |
11 years | 21 | 78.9 | 90.0 | 101.2 | 20 | 78.8 | 91.3 | 103.8 |
12 years | 32 | 95.9 | 106.1 | 116.4 | 32 | 97.0 | 106.6 | 116.2 |
13 years | 24 | 86.8 | 98.0 | 109.1 | 24 | 90.5 | 103.2 | 115.9 |
14 years | 29 | 102.2 | 113.4 | 124.6 | 30 | 103.8 | 116.8 | 129.7 |
15 years | 31 | 114.3 | 130.2 | 146.1 | 30 | 115.6 | 130.7 | 145.8 |
16 years | 43 | 122.7 | 134.0 | 145.2 | 42 | 121.3 | 133.8 | 146.3 |
17 years | 52 | 129.9 | 140.3 | 150.6 | 54 | 138.2 | 150.6 | 163.0 |
18 years | 57 | 141.3 | 153.4 | 165.6 | 56 | 145.3 | 156.9 | 168.5 |
19 years | 64 | 139.4 | 147.5 | 155.7 | 64 | 142.5 | 152.0 | 161.4 |
Females | ||||||||
1 days | 561 | 6.4 | 6.8 | 7.2 | 560 | 6.4 | 6.8 | 7.2 |
2–30 days | 91 | 13.1 | 14.7 | 16.2 | 91 | 13.2 | 14.7 | 16.1 |
31–60 days | 78 | 14.5 | 16.7 | 18.9 | 78 | 14.7 | 17.1 | 19.4 |
61–90 days | 72 | 16.0 | 17.7 | 19.4 | 72 | 16.1 | 17.8 | 19.4 |
91–120 days | 49 | 16.8 | 19.5 | 22.1 | 48 | 17.3 | 19.9 | 22.6 |
121–150 days | 50 | 19.5 | 22.8 | 26.0 | 51 | 19.8 | 23.0 | 26.2 |
151–180 days | 16 | 20.6 | 23.2 | 25.8 | 46 | 21.3 | 23.9 | 26.5 |
1 year | 62 | 23.1 | 25.6 | 28.0 | 63 | 24.2 | 26.7 | 29.3 |
2 years | 36 | 34.2 | 37.4 | 40.5 | 37 | 36.1 | 39.5 | 42.9 |
3 years | 50 | 43.3 | 47.5 | 51.6 | 50 | 44.6 | 48.4 | 52.2 |
4 years | 34 | 46.3 | 51.1 | 55.9 | 34 | 47.2 | 52.8 | 58.4 |
5 years | 30 | 48.6 | 54.7 | 60.7 | 30 | 49.8 | 54.7 | 59.6 |
6 years | 46 | 54.9 | 62.3 | 69.8 | 46 | 56.6 | 64.2 | 71.8 |
7 years | 27 | 60.5 | 72.6 | 84.6 | 28 | 62.4 | 74.3 | 86.3 |
8 years | 29 | 63.1 | 76.3 | 89.6 | 29 | 63.4 | 81.2 | 99.0 |
9 years | 19 | 66.6 | 73.8 | 81.1 | 20 | 70.9 | 81.2 | 91.5 |
10 years | 15 | 65.4 | 89.3 | 113.2 | 15 | 64.4 | 88.6 | 112.9 |
11 years | 15 | 77.9 | 93.3 | 108.7 | 15 | 77.1 | 93.2 | 109.2 |
12 years | 12 | 67.9 | 91.5 | 115.0 | 12 | 68.8 | 93.0 | 117.3 |
13 years | 27 | 90.4 | 101.5 | 112.7 | 27 | 96.9 | 108.2 | 119.6 |
14 years | 16 | 97.0 | 105.2 | 113.4 | 17 | 104.0 | 113.8 | 123.7 |
15 years | 33 | 100.7 | 113.2 | 125.6 | 33 | 108.3 | 118.4 | 128.6 |
16 years | 18 | 105.0 | 122.3 | 139.7 | 18 | 111.0 | 127.6 | 144.1 |
17 years | 47 | 119.4 | 129.2 | 139.0 | 46 | 123.2 | 134.8 | 146.5 |
18 years | 37 | 116.6 | 123.9 | 131.3 | 37 | 121.3 | 129.3 | 137.7 |
19 years | 42 | 119.4 | 129.0 | 138.6 | 42 | 119.5 | 130.6 | 141.6 |
Appendix 2: Renal and Urinary Tract Abnormalities in Genetic Disorders and Malformation Syndromes
McKusick No. | Condition | Inheritance | Abnormalities of kidney and urinary tract |
---|---|---|---|
101400 | Acrocephalosyndactyly type 3 (Saethre-Chotzen syndrome) | AD | Duplication of one kidney |
100300 | Adams-Oliver syndrome (scalp defects and ectrodactyly), aplasia cutis congenita, scalp defects, terminal transverse defect of digits or limbs, lethal | AD | Cystic kidneys |
175100 | Adenomatous intestinal polyposis; Gardner syndrome | AD | Horseshoe kidney |
105200 | Amyloidosis, familial visceral; amyloidosis of Ostertag | Probably AD | Glomerular amyloid and giant cells; renal failure in adult life |
118450 | Arteriohepatic dysplasia (Alagille), cholestasis secondary to intrahepatic ductular hypolasia, peripheral pulmonary stenosis, hypertelorism, straight nose, vertebral and ocular anomalies, lethal | AD | Glomerular lipidosis and sclerosis diffuse calcinosis, single kidney, small kidneys, renal artery stenosis |
173900 | AD polycystic kidney disease | AD | Renal cysts; renal failure in adult life |
191800 | Bilateral renal agenesis, unilateral renal agenesis, heriditary renal adysplasia | AD, XL | Unilateral agenesis, sometimes with contralateral hypoplasia or dysplasia; bilateral renal agenesis |
113650 | Branchiootorenal syndrome | AD | Sharply tapered superior poles and blunting of clices, renal hypoplasia |
118300 | Charcot-Marie-Tooth peroneal muscular atrophy syndrome | AD | Chronic, interstitial nephritis, focal segmental glomerular sclerosis |
153650 | Deafness-hyperprolinemia-ichthyosis syndrome | AD | Glomerular sclerosis renal failure |
129900 | Ectrodactyly-ectodermal dysplasia-cleft syndrome | AD with variable expressivity | Unilateral renal agenesis |
163200 | Epidermal nevus (ichthyosis hystrix; Jadassohn nevus sebaceus syndrome) | AD | Wilms tumor, renal hamartoma |
102500, 259699 | Essential osteolysis | ? AD | Chronic glomerulopathy progressing to renal failure |
152460 | Familial lobular glomerulopathy | Probably AD | Proteinuria, progressive renal failure |
137950 | Fibrillary glomerulopathy | AD | Proteinuria, hematuria, hypertension |
135600 | Fibromuscular arterial dysplasia | AD | Renal artery stenosis, hypertension especially in females |
305600 | Focal dermal hypoplasia (Goltz) syndrome | AD vs XL with male lethality? | Renal, ureteral malformations |
141200 | Hematuria, benign familial (thin GBM disease) | AD | Hematuria, thin GBM |
187300 | Hereditary hemorrhagic telangiectasia (Osler) | AD | Vascular lesions of kidneys, bladder, urethra cause hematuria |
143400 | Hydronephrosis, familial | AD with variable expressivity | Unilateral or bilateral hydronephrosis with or without ureteropelvic obstruction, contralateral renal agencies; expression of hereditary renal adysplasia (HRA) |
148860 | Klippel-Feil deformity, deafness, absent vagina syndrome | AD | Renal ectopia, unilateral agenesis |
149000 | Klippel-Trenaunay-Weber angioosteohypertrophy syndrome | AD | Renal angiomas, renal artery aneurysm nephroblastomatosis |
149500 | Kyrle disease (of skin) | Possibly AD | Diabetic nephropathy |
151100 | LEOPARD syndrome (multiple lentigines, pulmonic stenosis, mild hypertelorism, deafness) | AD variable expressivity | Unilateral renal agenesis or hypoplasia, hypospadias |
151660 | Lipodystrophy, familial limb and trunk type | AD vs XL | Diabetic nephropathy |
151680 | Lipodystrophy-Rieger anomaly-short stature-diabetes syndrome (Aarskog lipodystrophy) | Probably AD | Diabetic nephropathy |
174000 | Medullary cystic disease | AD | Probably primary tubulointerstitial disease |
156610 | Michelin tire baby syndrome | AD | Ureterocele |
160010 | Myoglobinuria, dominant | AD | Myoglobinuric acute or chronic renal failure |
160900 | Myotonic dystrophy | AD | Urinary retention, dysuria; note association with malignant hyperthermia; renal tubular necrosis, myoglobinuric nephropathy |
161200 | Nail-patella (hereditary onychoosteodysplasia) syndrome | AD | Thickening of GMBs, mesangial hyper-cellularity, glomerular sclerosis with tubular atrophy, chronic nephritis; focal deposits of IgM and/or complement; collagen fibers within GBM |
162200 | Neurofibromatosis type I | AD | Renal vascular involvement can cause hypertension |
236730 | Ochoa syndrome (urofacial syndrome), peculiar facial expression, inverted smiling/crying | AD with variable expressivity and variable penetrance | Hydronephrosis and hydroureter, intravesical stenosis of ureter, abnormal caliber of urethra urethral valves |
307100 | Optiz-Frias (G) syndrome, hypertelorism, hypospadias, low-set or posteriorly rotated ears, anal anomalies abnormalities of esophageal motility, posterior laryngeal cleft | AD vs XL | Duplication of renal pelvis and ureters, bilateral internal reflux, hypospadias |
166300 | Osteolysis (carpal-tarsal) with chronic progressive glomerulopathy syndrome | AD | Nephrotic syndrome progressing to renal failure |
169545 | Pelvic lipomatosis, crossed renal ectopia | AD | Renal ectopia |
175200 | Peutz-Jeghers gastrointestinal polyposis | AD | Renal cysts |
163700 | Polythelia (accessory nipple[s] or mammary gland) syndrome | Occasionally AD? | Unilateral renal agenesis; urinary tract obstruction |
179800, 267200 | Renal tubular acidosis-nephrocalcinosis-urinary tract infection-renal failure syndrome | AD and AR | Nephrocalcinosis |
180700 | Robinow fetal face-acral dysostosis syndrome | AD | Vesicoureteral reflux, renal scarring |
270050 | Russell-Silver dwarfism-asymmetry syndrome | AD and XL | Renal abnormalities |
176450 | Sacrococcygeal dysgenesis syndrome | Possibly AD | Neurogenic bladder and sequelae |
187480 | Tournes-Brocks syndrome deafness, lop ears, imperforate anus, triphalangeal or hypoplastic thumbs, preauricular ear tags or pits, lethal | AD | Renal hypoplasia, ureterovesical reflux, posterior urethral valves |
191100 | Tuberous sclerosis | AD | Cystic kidneys, renal angiomyolipomas |
191900 | Uriticaria-deafness-amyloidosis (Muckle-Wells) syndrome | AD | Renal amyloidosis |
193300 | von Hippel-Lindau syndrome | AD | Cystic Kidneys, renal carcinoma |
194050 | Williams syndrome, hypercalcemia, supravalvular aortic stenosis, mental retardation | AD submicroscopic deletion subunit 7q11–23 (elastin deletion) | Renal artery stenosis and other renal abnormalities |
Autosomal recessive (AR) | |||
200170 | Acanthosis nigricans-muscle cramps-enlarged hands syndrome | AR | Nephromegaly, mechanism? |
102700 | Adenosine deaminase deficiency, combined immunodeficiency | AR | Glomerular mesangial sclerosis |
102600 | Adenosine phosphoribosyl transferase deficiency | AR | Renal calculi |
203800 | Alström-Hallgren retinitis pigmentosa-deafness-obesity-diabetes mellitus syndrome | AR | Progressive nephropathy, tubulointerstitial nephritis |
204690 | Amelogenesis imperfecta-nephrocalcinosis (enamel-renal syndrome) | AR | Nephrocalcinosis |
207410 | Antley-Bixler syndrome, midface hypoplasia, humeroradial synostosis, bowing of the femurs, fractures, cardiac malformations, choanal stenosis, lethal | AR | Renal malformations |
208000 | Arterial calcification generalized, of infancy | AR | Renal artery occlusion |
301820 | Arthrogryposis-jaundice-nephrocalcinosis | AR | Tubular degeneration, nephrocalcinosis |
249600 | Barakat mesangial sclerosis-ocular abnormalities | AR | Diffuse glomerular mesangial sclerosis |
209900 | Bardet-Biedl postaxial polydactyly-genital hypoplasia-retinopathy-obesity-mental retardation syndrome | AR | Progressive tubulointestional nephropathy |
218650 | Baraitser-Rodeck-Garner, craniosynostosis (coronal), hypertelorism, choroidal coloboma, mild mesomelic shortening of limbs, developmental delay, seizures | AR | Segmental renal dysplasia, cystic dysplasia |
209930 | Bartter syndrome with hypercalciuria and nephrocalcinosis | AR | Medullary nephrocalcinosis |
241200 | Bartter hypokalemic alkalosis-hyperaldosteronism syndrome | Probably AR | Juxtaglomerular hypertrophy |
263200 | Caroli (renal hapatic-pancreatic) dysgenesis, pancreatic dysplasia | AR | Usually ARPKD, less often cystic renal dysplasia |
214150 | Cerebrooculofacioskeletal syndrome (COFS Pena-Shokeir syndrome type 2), microcephaly, cataracts, joint contractures, reduced white matter; cerebral calcification, agenesis of corpus callosum, failure to thrive, lethal | AR | Renal anomalies |
236450 | Cerebronephroosteodysplasia, Hutterite type | Probably AR | Nephrotic syndrome |
210550 | Cholestatic jaudice–renal insufficiency | AR | Proximal renal tubular dysfunction |
302950 | Chondrodysplasia punctata, rhizomelic type | AR | Microcystic kidneys |
225500 | Chondroectodermal dysplasia | AR | Urinary tract anomalies |
216440 | Cockayne syndrome | AR | Glomerular sclerosis, tubular atrophy, interstitial fibrosis, immune deposits, nephrotic syndrome |
218650 | Craniosynostosis-mental retardation-cleft lip pa late-choroidal coloboma syndrome | AR | Dysplastic kidneys |
218900 | Crome syndrome | AR | Renal tubular necrosis |
219000 | Cryptophthalmos, cryptophthalmia, cleft lip/palate, genital anomalies, atresia of ear canal, anal atresia, syndactyly | AR | Renal dysplasia or agenesis, ureteric anomalies |
219150 | Cutis laxa, severe lethal form; neonatal cutis laxa; diaphragmatic or other hernias; emphysema | AR | Urinary tract diverticula |
Daentl Syndrome | AR or XL | Duplication of left renal artery, disparity in size of kidneys, persistent fetal lobulations, glomerular lipidosis, progressive focal glomerulosclerosis, nephrotic syndrome | |
194080 | Denys-Drash syndrome (ambiguous genitalia-nephritis-Wilms tumor) | AR | Diffuse mesangial sclerosis, renal failure, Wilms tumor |
305200 | Ehlers-Danlos syndrome | AR, XL | Multiple renal and hepatic cysts, renovascular abnormalities, aneurysms of medium-sized and small arteries |
Elejalde syndrome (acrocephalopolydactylous dysplasia) | AR | Cystic renal dysplasia | |
226730 | Epidermolysis bullosa with pyloric atresia and ureterovesical stenosis | AR | Hydronephrosis |
248340 | Facial clefting syndrome-gypsy type (Malpuech syndrome) | Possibly AR | Renal hypoplasia, ectopia; vesicoureteral reflux; bladder diverticula |
227280 | Faciocardiorenal (Eastman-Bixler) syndrome | AR | Horseshoe kidneys |
227290 | Faciooculoacousticorenal syndrome | Possibly AR | Proteinuria, vesicoureteral reflux |
227650, 227660 | Fanconi pancytopenia, with several complementation groups | AR | Renal agenesis, renal ectopia, collecting system duplication, horseshoe kidney |
219000 | Fraser cryptophthalmos-syndactyly-vaginal atresia syndrome | AR | Unilateral or bilateral renal dysplasia, hypoplasia, agenesis |
229850 | Fryns syndrome, cloudy corneas, hirsutism, absent or hypoplastic fingernails, hypoplastic distal phalanges, eventration and absence of diaphragm, bicornuate uterus, holoprosencephaly, lethal | AR | Cystic kidneys |
277175 | Gastrointestinal-renovascular hyalinosis | AR | Glomerular mesangial basement membrane-like deposits |
231060 | Genitopalatocardiac syndrome, male pseudohermaphroditism, micrognathia, cleft palate, conotruncal cardiac defect, other anomalies | AR | Renal dysplasia, dysgenesis of bladder |
Gil-Gibernau syndrome (hypercalciuria with myopia and macular coloboma) | AR | Renal tubular malformation, hypercalciuria | |
Goldston syndrome (Dandy-Walker malformation) | AR | Cystic dysplasia with biliary dysgenesis | |
230740 | Growth retardation-alopecia-pseudoanodontia syndrome | AR | Nephrocalcinosis |
235400 | Hemolytic-uremic syndrome | AR, AD | Microthrombotic ischemia, glomerular and tubular necrosis |
203300 | Hermansky-Pudlak, albinism, hemorrhagic diathesis, pigmented reticuloendothelial cell syndrome | AR | Renal failure |
235740 | Hirschsprung disease-polydactyly-deafness syndrome | AR | Unilateral renal agenesis |
253200 | Hunter-Jurenka (oculorenocerebral) syndrome | AR | Glomerular sclerosis, juxtaglomerular prominence, basement membrane thickening with granular deposits |
211180 | Hutterite microcephaly-abnormal facies-micrognathia syndrome, Bowen-Conradi type | AR | Horseshoe kidney, duplicated renal collecting system |
236500 | Hydranencephaly, renal adysplasia | AR | Renal hypo/dysplasia |
236680 | Hydrolethalus, hydrocephalus; very small mandible; polydactyly; congenital heart defect; abnormalities of trachea, bronchi, and lungs; cleft lip and palate, lethal | AR | Unilateral renal agenesis, hypoplasia kidneys, tubular cysts |
239800 | Hypertelorism-microtia-facial clefting syndrome | AR | Renal ectopia |
261100 | Imerslund-Grasbeck syndrome, pernicious anemia due to intestinal malabsorption of vitamin B12 | AR | Proteinuria |
243800 | Johanson-Blizzard syndrome, hypoplasia of nose, midline cutaneous scalp lesions, imperforate anus, deafness, hypothyroidism, malabsorption; microcephaly, lethal | AR | Caliectasia, hydronephrosis, single urogenital orifice |
213300 | Joubert hypotonia-tachypnea-mental retardation-deficient cerebellar vermis syndrome | AR | Renal cysts |
208060 | Juvenile arteriosclerosis, severe, calcific | AR | Dilated Bowman spaces with shrunken glomeruli |
Juvenile nephronophthisis (Fanconi) | AR | Chronic tubulointerstitial nephritis | |
236700 | Kaufman-McKusick syndrome, hydrometrocolpos, vaginal atresia, polydactyly (postaxial), imperforate anus, congenital heart disease, malrotation of gut, congenital intestinal adhesions, lethal | AR | Urethral stenosis, cystic renal disease |
245210 | Kousseff sacral meningocele-conotruncal head/neck anomaly syndrome | AR | Unilateral renal agenesis |
265000 | Lethal multiple pterygium syndrome, type Chen; multiple pterygia involving chin to sternum, axilla, elbows, hips, and knees; contractures of multiple joints; small chest; hydrops, cystic hygroma; cardiac, pulmonary hypoplasia; hypertelorism; low-set, malformed ears; flat nasal bridge; lethal | AR | Megaureter, hydronephrosis |
147670 | Lipodystrophy-coarse facies-acanthosis nigricans syndrome, Miescher type | AR | Diabetic nephropathy |
247200 | Lissencephaly type II (Walker-Warburg syndrome) | Chromosome 17 (short arm deletion) and ? AR | Unilateral agenesis, renal cystic dysplasia kidneys |
309000 | Lowe oculocerebrorenal syndrome | AR | Renal failure |
248700, 255800 | Marden-Walker myopathy-mental defect contracture syndrome (Schwartz-Jampel syndrome) | AR | Microcystic kidneys |
249000 | Meckel-Gruber syndrome, posterior encephalocele, polydactyly, microcephaly, microphthalmos, cleft palate, ambiguous, lethal | AR | Cystic dysplastic kidneys and liver |
249100 | Mediterranean fever, paroxysmal polyserositis, recurrent fever | AR | Renal amyloidosis |
251300 | Microcephaly-hiatus hernia-nephrosis syndrome, Galloway type Miranda syndrome (cerebral dysgenesis) | AR | Proteinuria, nephrotic syndrome, renal failure, abnormalities of GBM |
226980 | Multiple epiphyseal dysplasia-diabetes mellitus | AR | Cystic dysplasia with biliary dysgenesis |
249630 | Mutchinick mental retardation-microcephaly-cardiac anomaly syndrome | AR | Diabetic nephropathy |
254900 | Myoclonus-nephropathy syndrome | AR | Hydronephrosis, hydroureter |
255120 | Myopathy, carnitine palmitoyltransferase deficiency | AR | Proteinuria, progressive renal failure |
264090 | Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome | AR or XL | Myoglobinuric renal damage |
256350 | Nephrotic syndrome, familial (French type) | AR | Urinary tract reflux |
AR | Nephrotic syndrome with onset often after birth: diffuse mesangial sclerosis; early onset of hypertension and renal insufficiency | ||
256300 | Nephrotic syndrome, congenital (Finnish type) | AR | Severe nephrotic syndrome; eventual glomerular sclerosis and renal failure early in first decade |
256520 | Neu-Laxova syndrome, microcephaly, short neck, flexion deformities, peripheral edema, hypoplastic genitalia, absent eyelids, sloping of forehead, hypertelorism, small jaw, flat nose, cataracts, overlapping fingers, syndactyly, agenesis of corpus callosum, lissencephaly, lethal | AR | Renal agenesis |
256690 | Neurofaciodigitorenal syndrome | AR vs XL | Unilateral renal agenesis |
256670 | Oculorenocerebellar syndrome with mental retardation; choreoathetosis, tapetoretinal degeneration, spastic diplegia, proteinuria | AR | Focal segmental glomerulosclerosis, renal failure |
211750 | Opitz C (trigonocephaly) syndrome | Probably AR | Renal agenesis |
277170 | Oropalatodigital syndrome, Varadi type | AR | Unilateral renal agenesis |
Ozer syndrome | ? AR | Proteinuria and aminoaciduria | |
242530 | Passwe syndrome ichythyosis, dwarfism, mental retardation, and renal disease) | AR | Disparate size of kidneys, tubular fibrosis, glomerular thickening and atrophy, hypertension |
267000 | Perlman macrosomia-nephroblastomatosis-metanephric hamartoma-Wilms tumor syndrome | AR | Bilateral renal hamartomas and nephroblastomatosis, renal dysplasia, Wilms tumor, medullary dysplasia, hydronephrosis |
163200 | Polycystic kidney disease, infantile type | AR | Tubular renal cysts; nephromegaly; renal failure common in infancy; hypertension |
263100 | Polycystic kidney disease-cataract-blindness syndrome | Possibly AR | Urinary tract infection, renal calculi, cystic renal dysplasia |
179280 | Radial-renal syndrome | AR and AD forms | Crossed renal ectopia, unilateral renal agenesis |
266910 | Renal dysplasia-limb defects syndrome | AR | Severe renal dysplasia with oligohydramnios |
266900 | Renal dysplasia-retinal aplasia, Lφken-Senior type | AR | Tubulointestinal nephritis (nephronophthsis) with progression to renal insufficiency |
Renal tubular dysgenesis, hypocalvaria, oligohydramnios | AR | Defective proximal tubular development (similar to ACE inhibitor syndrome) | |
268300 | Roberts (pseudothalidomide) syndrome, severe tetraphocomelia owing to hypoplasia of fibulae and tibiae, absence of radii, short ulnae, cleft lip and palate, joint contractures, ambiguous or apparently enlarged genitalia, cogenital heart disease; chromosomes show characteristic “puffing” around centromere, particularly chromosomes 1, 9, and 16; lethal | AR | Horseshoe kidney, ureteral stenosis with hydronephrosis, occasional renal cysts |
Sickle cell anemia | AR | Glomerular hypertrophy and sclerosis, membranoproliferative glomerulonephritis, papillary necrosis | |
Sinclair-Smith (familial hydrocephalus and nephrotic) syndrome | AR | Cystic kidneys (cortex and medulla), excessively immature glomeruli with congenital nephrotic syndrome | |
274000 | Thrombocytopenia-absent radius, bilateral radial aplasia, radial clubhands (with thumbs present), purpura, thrombocytopenia, cogenital heart defects, lower limb defects, lethal | AR | Unilateral renal agenesis, hypospadias, transposition of penis and scrotum |
236670 | Walker-Warburg (Hard ± E syndrome, lissencephaly II) anterior chamber defects of eye, retinal dysplasia, hydrocephalus, lack of gyral patterns, occipital encephalocleles, lethal | AR | Unilateral agenesis, cystic kidneys |
277700 | Werner progeroid syndrome | AR | Diabetic nephropathy |
267400 | Winter syndrome (renal, genital, and middle-ear anomalies) | AR | Unilateral agenesis or hypoplasia, bilateral agenesis |
X-Linked (XL) | |||
104200, 203780, 301050 | Alport nephritis-sensorineural deafness syndrome | XL; similar AR and AD entities | Progressive glomerulopathy with distinctive GBM abnormalities, interstitial lipid histiocytes (Fechtner type, with cataract and May-Hegglin anomaly, is AD) |
314300 | Cervicodermagenitourinary syndrome | XL? | Cystic renal dysplasia in males; pyelonephritis in both sexes; hypertension; renal failure |
304150 | Cutis laxa, X-linked (Elhers-Danlos syndrome type 9) | XL | Obstructive uropathy, bladder diverticula |
305000 | Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) | XL | Urethral stenosis, horseshoe kidney |
305450 | FG syndrome (Opitz-Kaveggia) macrocephaly, prominent waxy forehead, frontal upsweep of hair (cowlick), hypotonia, agenesis of corpus callosum, mental retardation, anal anomalies, lethal | XL | Dilation of urinary tract |
314300 | Goeminne syndrome (congenital muscular torticollis, multiple keloids, cryptorchidism, renal dysplasia) | XL | Renal dysplasia, chronic pyelonephritis with hypertension |
307800 | Hereditary hypophosphatemic rickets with hypercalciuria (same as hypercalciuria, familial?) | XL | Nephrocalcinosis, renal tubular dysfunction |
244200 | Kallmann syndrome (cogenital anosmia, hypogonadism, unilateral renal agenesis) | XL | Unilateral renal agenesis |
309800 | Lenz microphthalmia, prominent ears, sloping shoulders, urogenital anomalies, lethal | XL | Urogenital anomalies |
308000 | Lesch-Nyhan hypoxanthine-guanine phosphoribosyl transferase deficiency | XL | Nephrocalcinosis, uric add crystals |
249420 309350 | Melnick-Needles syndrome, unusual facial appearance, micrognathia, “wavy” long bones, constrictions of ribs, tall vertebrae, sclerosis of skull, severe exomphalos or proptosis, micrognathia, low-set ears, absent or opaque corneas, partial syndactyly, lethal | XL | Unilateral stenosis, hydronephrosis |
242700 | Nezelof syndrome (arthrogryposis multiplex congenita, renal dysfunction, cholestatic liver disease) | XL | Renal tubular cell degeneration, nephrocalcinosis |
311200 | Orofaciodigital syndrome 1 | XL with male lethality | Glomerulocystic kidneys in female heterozygotes |
312870 | Simpson-Golabi-Behmel overgrowth syndrome; cardiac, skeletal anomalies, umbilical and inguinal hernias; supernumerary digits; variable intelligence | XL | Cryptorchidism, penoscrotal hypospadias, penoscrotal transposition |
306100 | Swyer syndrome (46,X gonadal dysgenesis) with renal disease | XL | Glomerulosclerosis with tubular atrophy and interstitial fibrosis |
314000 | Thrombocytopenia-elevated IgA-renal disease | XL | Glomerulonephritis |
Sporadic | |||
173800 | Acrorenal anomalies including Poland anomaly | Sporadic | Unilateral renal agenesis and other renal malformations |
217900 | Brachmann-de Lange syndrome, low birthweight, microcephaly, characteristic face, synophrys, nostrils anteverted, philtrum long, corners of mouth down-turned, hirsutism, chromosomal defect (3q del; ring 9) | Sporadic | Hypoplastic and dysplastic kidneys |
Caudal dysplasia, sacral agenesis/hypoplasia, lower limb and skeletal anomalies, anal atresia, bladder anomalies | Sporadic | Renal dysplasia and agenesis; anomalies of uterus, urethra, and bladder | |
Cerebrorenodigital, digital, and limb anomalies; brain malformations, other anomalies | Sporadic | Renal dysplasia ectopy, agenesis, ureteral anomalies | |
Cystic hamartoma of lung and kidney, hamartomatous pulmonary cysts | Sporadic | Medullary dysplasia, cellular mesoblastic nephroma | |
Exstrophy of bladder (exstrophy-epispadias complex), Robinson defect | Sporadic | Exposure of posterior wall of bladder, megacystis, hydroureters, hydronephrosis and cystic renal dysgenesis, bilateral renal agenesis | |
Exstrophy of cloaca | Sporadic | Duplication or atresia of ureter, anomalous drainage of ureters into vagina or vasa-deferentia, unilateral agenesis of kidney, cystic hydronephrosis, pelvic kidney, hydroureter | |
257700 | Goldenhar complex (facioauriculovertebral syndrome, hemifacial microstomia) | Sporadic | Pelvic deformity, anomalous renal artery; unilateral cystic kidney |
Huber syndrome (carotid anastomosis and aplasia of internal carotid artery) | Sporadic | Bilateral cysts in cortex and medulla | |
103300 | Hypoglossia-hypodactyly (Hanhart syndrome), severe limb abnormalities, hypoplastic or absent tongue, micrognathia, facial palsy, lethal | Sporadic | Renal anomalies |
242150 | Ichthyosiform erythrokeratoderma with deafness syndrome | Sporadic | Urinary tract infection |
149900 | Klippel-Trenaunay-Weber dysplasia | Sporadic | Diffuse bilateral nephroblastomatosis |
215800 | Laryngeal cleft | Sporadic | Unilateral renal agenesis, multicystic kidney, malfunctioning left kidney, persistent fetal lobulation, renal hypoplasia, pelvic ectopic kidney, urethrorectal fistula, exstrophy of bladder |
Melnick-Fraser (renal anomaly syndrome) | Sporadic | Renal agenesis, hypospadias, oligomeganephronia, cystic dysplasia | |
146510 | Pallister-Hall syndrome, hypothalamia, hamartoblastoma, postaxial polydactyly, imperforate anus, laryngeal clefts, abnormal lung lobulation, multiple oral frenulae, hypoadrenalism, hypopituitarism, microphallus, congenital heart defect, intrauterine growth retardation, lethal | Sporadic | Renal dysplasia |
Environmental (Teratogens) | |||
Alcohol (fetal alcohol syndrome) | In utero exposure | Small rotated kidneys, hydronephrosis, horseshoe kidney, renal dysplasia, microcystic dysplasia | |
Alkylating agents (busulfan, chlorambucil, cyclophosphamide, mechlorethamine): growth retardation; cleft palate; microphthalmia; digit anomalies; cardiac defects; anoamalies of larynx, trachea, and esophagus | In utero exposure | Hydronephrosis, hydroureter | |
Angiotensin-converting enzyme (ACE) inhibitor syndrome | In utero exposure | Renal tubular dysgenesis, postnatal renal failure, hypocalvaria | |
Antithyroid drug syndrome | In utero exposure | Patent urachus | |
Cocaine syndrome | In utero exposure | Prune-belly syndrome, renal and ureteral agenesis, hydronephrosis, hypospadias, ambiguous genitalia | |
Cyclooxygenase inhibitors (NSAIDs) | In utero exposure | Oligohydramnios | |
Herpes simplex syndrome | In utero exposure | Renal hypoplasia | |
Indomethacin | In utero exposure | Oligohydramnios, tubular lesion in fetus/newborn | |
Maternal diabetes: heart defects, facial clefts, limb defects, sacral agenesis, neural tube defects, focal femoral hypoplasia, lethal | In utero exposure | Renal agenesis, renal dysplasia, hydronephrosis, ureteral duplication, cystic renal dysplasia, caudal regression syndrome | |
Maternal phenylketonuria: microcephaly, mental retardation, congenital heart defects, occasionally vertebral anomalies, cleft lip/palate, esophageal atresia, lethal | In utero exposure to untreated mother with phenylketonuria | Renal anomalies | |
Retinoic acid (vitamin A): malformed or absent ears, cleft palate, congenital heart defect, CNS malformations (e.g., hydrocephaly decreased cerebral tissue, posterior fossa cysts), lethal | In utero exposure | Hypoplastic kidneys, hydronephrosis | |
Rubella: cataracts, microphthalmia, pigmentary retinopathy, prenatal and postnatal growth retardation, heart defects, skeletal anomalies, sensorineural deafness, neurologic impairment, microcephaly | In utero exposure | Stenosis of renal artery, cystic kidneys, duplication of ureters, unlateral renal agenesis | |
273600 | Thalidomide embryopathy | In utero exposure | Renal agenesis, hypoplasia, hydronephrosis, horseshoe kidney, cystic kidneys, renal ectopia, anomalies of rotation |
132870 | Hydration (fetal phenytoin [Dilantin] syndrome): growth retardation, hypoplastic bridge to nose, hirsutism, hypoplastic, fingernails, cleft lip and palate, heart defects, lethal | In utero exposure | Urinary tract malformations |
Trimethadione: growth deficiency, synophrys, midface hypoplasia, cleft lip and palate, ear abnormalities, ambiguous genitalia, heart defects, lethal | In utero exposure | Absent kidney and ureter, fetal lobulation of kidneys, hypospadias | |
Valproate: neural tube defects, metopic ridge, well-formed philtrum, mild hirsutism, heart defects, hypospadias, pre- and postaxial polydactyly, characteristic facies, lethal | In utero exposure | Hypospadias | |
Varicella zoster infection | In utero exposure | Renal agenesis, hydronephrosis | |
Warfarin embryopathy: depressed nasal bridge, nasal hypoplasia, groove between alae nasi, low birthweight, CNS abnormalities, stippling of epiphyses, lethal | In utero exposure | Unilateral renal agenesis, abnormal urinary tract | |
Metabolic disorders | |||
202900 | Alaninuria-microcephaly-dwarfism-enamel hypoplasia-diabetes mellitus (Stimmler) syndrome | AR | Diabetic glomerulopathy |
241200 | Bartter hypokalemic alkalosis-hyperaldosteronism syndrome | Probably AR | Juxtaglomerular apparatus hyperplasia |
209930 | Bartter syndrome with hypercalciuria and nephrocalcinosis | AR | Medullary nephrocalcinosis |
255120 | Carnitine palmitoyl transferase deficiency myopathy | AR | Fatty change of renal tubules; myoglobinuric renal damage possible |
219800 | Cystinosis and Fanconi syndrome aminoaciduria, glucosuria, hypophosphatemic rickets | AR | Progressive renal tubular atrophy and interstitial fibrosis |
220110 | Cytochrome C oxidase deficiency, mitochondrial defect | AR | Hydroureter, nephrocalcinosis |
222300 | Diabetes insipidus/mellitus-optic atrophy-deafness syndrome | AR | Bladder neck sclerosis, megacystis, hydroureter, hydronephrosis, renal failure |
125700 | Diabetes insipidus, neurohypophyseal type | AD vs XL | Urinary tract dilation |
125800 | Diabetes insipidus, vasopressin resistant | XL more often than AD | Urinary tract dilation |
301500 | Fabry (lysosomal a-galactosidase A deficiency) disease | XL | Glycosphingolipid deposition in glomerular podocytes, distal tubular epithelium, vascular media; glomerular sclerosis; renal failure |
231670 | Glutaric acidemia type II | AR | Bilateral cystic kidneys, cystic dysplasia |
232200 | Glycogenosis IA (von Gierke) | AR | Nephromegaly, focal segmental glomerular sclerosis, renal failure, gout, renal calculi |
232200 | Glycogen storage disease IB (neutropenic form of von Gierke disease) | AR | Glomerulonephritis |
232600 | Glycogenosis 5 (McArdle) | AR | Myoglobinuric renal failure |
230500 | GM1 (generalized gangliosidosis type 1), deficiency of β-galactosidase, hydrops, periosteal cloaking of long bones on x-ray films, Hurler-like dysmorphism | AR | Storage material in glomerular epithelial and tubular cells |
277900 | Hepatolenticular degeneration (Wilson disease) | AR | Renal calculi |
236200 | Homocystinuria | AR | Nephrotic syndrome |
143870 | Hypercalciuria, familial | AD | Renal calculi |
167030 | Hyperoxaluria | AD | Renal calculi |
145000, 239200 | Hyperparathyroidism, familial | Uncertain | Nephrocalcinosis |
239400 | Hyperpipecolic acidemia | AR | Renal tubular ectasia |
241150 | Hyperkalemic alkalosis-renal tubulopathy (Gullner) syndrome | AR | Normal juxtaglomerular apparatus (vs Bartter syndrome); proximal tubular cytologic changes |
307800 | Hypophosphatemia, XL (vitamin d-resistant rickets type I) | XL | Nephrocalcinosis |
252500 | I-cell (mucolipidosis type 2), deficiency of N-acetyl glucosamine phosphotransferase, skin thickened, alveolar ridge hyperplasia, marked periosteal cloaking alveolar ridge hyperplasia, marked periosteal cloaking | AR | Storage material in glomerular epithelial and tubular cells; no renal functional impairment |
242600 | Iminoglycinuria type 2 | AD | Oxalate renal lithiasis |
245900 | Lecithin-cholesterol acyl transferase deficiency | AR | Proteinuria, glomerular lipid deposits and foam cells, glomerular sclerosis, renal failure |
308000 | Lesch-Nyhan syndrome (hypoxanthine guanine phosphoribose transferase deficiency) | XL | Gout, urinary calculi, nephropathy |
Lipoprotein glomerulopathy with elevated serum p-lipoprotein and pre-β-lipoprotein | AR | Glomerular capillary lipoprotein “thrombi,” nephrotic syndrome | |
309400 | Menkes syndrome, severe retardation, seizures, failure Menkes syndrome, severe retardation, seizures, failure and kinky, low serum copper, lethal | XR | Tortuous blood vessels, including renal vessels |
252150 | Molybdenum cofactor deficiency type A | AR | Xanthine calculi |
202370 | Neonatally lethal adrenoleukodystrophy | AR | Renal microcysts |
Nephrosialidosis due to deficiency of glycoprotein-specific α-neuraminidase with Hurler-like phenotype | AR | Storage of sialyl-oligosaccharides and glycoproteins in podocytes, tubular epithelium, interstitial cells; nephrotic syndrome and renal insufficiency | |
311850 | Phosphoribosyl pyrophosphate synthetase abnormality syndrome of spinocerebellar ataxia-sensorineural hearing loss | XL | Hyperuricemia, nephrolithiasis, urate nephropathy |
266500 | Phytanic acid storage (adult Refsum) disease neuropathy, retinitis pigmentosa, peripheral cerebellar ataxia, retinitis pigmentosa, peripheral cerebellar ataxia | AR | Fatty change of kidney tubules, lamellate microtubular epithelial inclusions in distal convoluted tubules |
176000 | Porphyria, acute intermittent | AD | Urinary retention, hypertension |
263700 | Porphyria erythropoietica | AR | Renal siderosis from hemolysis |
176860 | Protein C deficiency | AD more often than AR | Renal vein thrombosis |
179800 | Renal tubular acidosis | AD and AR | Nephrocalcinosis, urinary tract infection, renal failure, renal calculi |
269920 | Sialic acid storage disease, severe infantile type (Salla disease), sparse hair, coarse facial features, Hepatosplenomegaly, ascites, diarrhea, vacuolated lymphocytes, ultrastructural and biochemical features, lethal | AR | Free sialic acid in urine; enlarged, foamy podocytes; nephrotic syndrome |
256550 | Sialidosis type 2 (see nephrosialidosis) | AR | Oligosaccharide and glycoprotein storage |
270400 | Smith-Lemli-Opitz syndrome, microcephaly, narrow bifrontal diameter, ptosis, epicanthic folds, broad nasal tip, anteverted nostrils, long philtrum, posteriorly rotated ears, small jaw, skin syndactyly between toes 2 and 3, heart defects, polydactyly, failure to thrive, deficiency of 7-dehydrocholesterol reductase, lethal | AR | Cystic renal dysplasia |
201910 | Steroid 21-hydroxylase deficiency (adrenal hyperplasia type 3) | AR | Renal anomalies |
Wochner syndrome (thyrotoxicosis and renal disease) | Sporadic | Subacute proliferative glomerulonephritis with immunoglobulin deposits | |
278000 | Wolman (acid lipase deficiency), vomiting, diarrhea, hepatosplenomegaly, bilateral adrenal calcification, enzyme deficient of acid lipase, lethal | AR | |
278300 | Xanthine oxidase deficiency | AR | Renal calculi |
214100 | Zellweger (cerebrohepatorenal) syndrome, peroxisomal deficiency, hypotonia, tall and narrow forehead, Brushfield spots, cataracts (occasionally), contractures of limbs, nystagmus, seizures, punctate calcification around epiphyses, abnormalities of gyral pattern of brain, peroxisomes absent from liver, lethal | AR | Focal cortical glomerular and tubular cysts, cystic dysplasia, altered metanephric duct remnants, persistent fetal lobulations, horseshoe kidney, urethral duplication |
Skeletal dysplasia | |||
200600 | Achondrogenesis (type Parenti-Fraccaro), hydrops, short trunk limbs, depressed nasal bridge, very poor ossification of vertebral bodies, very short tubular bones with metaphyseal cupping, cranium poorly ossified, always lethal | AR | Hydronephrosis |
208500 | Asphyxiating thoracic dystrophy, narrow chest, short limbs, occasional postaxial polydactyly, short horizontal ribs, spur on medial and lateral aspects of acetabulum giving “trident” appearance, lethal | AR | Tubulointerstitial nephropathy with tubular dysfunction and progressive renal insufficiency in children surviving infancy; occasional dysplasia and diffuse cystic disease in newborns; frequent biliary dysgenesis |
218600 | Baller-Gerold syndrome, craniostenosis, dysplastic ears, radial aplasia, hypoplastic or absent thumbs, vertebral anomalies, lethal | AR | Renal cystic dysplasia |
113470 | Brachymesomelia-renal syndrome Langer | New mutation AD? | Nephromegaly, glomerular cysts |
211990 | Campomelic dysplasia, flat face, micrognathia, short palpebral fissures, bowing of limbs, skin dimpling, sex reversal, talipes equinovarus, small scapulae, short clavicles, bent tubular bones (especially femora and tibia), lethal | AR | Renal cystic dysplasia |
Campomelia-short gut polycystic dysplasia, severe shortening and bowing of long bones, vertebral anomalies, cystic dysplasia of liver and pancreas, short gut, pulmonary hypoplasia, polysplenia, other anomalies | AR | Renal dysplasia | |
302950 | Chrondrodysplasia punctata (severe rhizomelic form), rhizomelia, flattened face, cataracts, ichthyosis and skin dimpling, joint contractures, symmetric rhizomelic shortening of limbs, stippling of epiphyses, peroxisomal defect, lethal | AR | Renal cystic dysplasia |
256050 | de la Chapelle neonatal osseous dysplasia, prenatal short stature, narrow chest, short ribs, hemivertebrae, hypoplastic or bowed bones, lethal | AR | Renal cystic dysplasia |
222600 | Diastrophic dysplasia, short-limbed dwarfism, severe talipes equinovarus, abducted “hitchhiker” thumbs, shortening and metaphyseal widening of long bones, cleft palate, micrognathia, cystic enlargement of external ear, lethal | AR | Renal cystic dysplasia |
224400 | Dyssegmental dysplasia, short bowed limbs, coronal clefts of vertebrae, great variability in size of vertebral bodies, advanced carpal maturation, rib defects, lethal | AR | Renal cystic dysplasia |
200995 | Elejalde syndrome, large birthweight, overgrowth of subcutaneous tissue to give pseudohydrops appearance, lethal | AR | Cystic dysplasia with increased collagen tissue |
225500 | Ellis-van Creveld syndrome, polydactyly, heart defects (especially ASD), narrow chest, distal shortening of limbs, small nails, multiple oral frenulae, lethal | AR | Renal cystic dysplasia |
228520 | Fibrochondrogenesis, flat face, prominent eyes, cleft palate, narrow chest, short limbs, enlarged joints, characteristic histology, short dumbbell-shaped, tubular bones, short ribs, platyspondyly, small ilia, lethal | AR | Renal cystic dysplasia |
146000 | Hypochondroplasia, short limbs and trunk, characteristic histology, flared metaphyses, delayed ossification, flat vertebrae, lethal | AR | Renal cystic dysplasia |
277300 | Jarcho-Levin syndrome; spondylocostal dysplasia; urogenital anomalies; contractures of limbs; anal atresia; extremely crowded ribs, with very short, broad thorax; lethal | AR | Renal cystic dysplasia |
245190 | Kniest dysplasia (severe neonatal lethal form); short trunk, neck, and limbs; dumbbell-shaped long bones; coronal clefts of vertebrae, lethal | AD and AR | Renal cystic dysplasia |
249700 | Langer syndrome (brachymesomelia-renal syndrome) | Sporadic | Glomerulocystic kidneys |
245600 | Larsen syndrome: severe, multiple joint dislocations of elbows, hips, and knees, flat nasal bridge; prominent forehead; broad thumbs; talipes equinovarus; long spatulated fingers, lethal | AR | Renal cystic dysplasia |
308050 | Limb reduction-ichthyosis (CHILD) syndrome | Possibly XL | Urinary tract malformations |
250600 | Metatropic dysplasia, severe short stature, progressive kyphoscoliosis, prominent joints, narrow chest, short ribs, tail-like projection of sacral region, lethal | Both AD and AR forms | Renal cystic dysplasia |
Moerman-Vandenberghe-Fryns, short-limbed dysplasia, spondylocostal dysostosis, cleft palate, heart defect, duplication of uterus and vagina, Dandy-Walker cyst, hydrocephalus, absent corpus callosum, lethal (similar to achondrogenesis) | ? AR | Renal dysplasia (hypo/dysplastic), hydroureters | |
120150 | Osteogenesis imperfecta congenita type II, soft calvarium, blue sclerae, pinched nose, short bent limbs, multiple fractures of long bones, wormian bones in skull, thin ribs with multiple fractures (beaded), lethal | AD, most new mutations, occasional germline mosaicism | Renal cystic dysplasia |
269150 | Schinzel-Giedion midfacial retraction-hypertrichosis skeletal anomaly syndrome | AR | Hydronephrosis |
181450 | Schinzel ulnar ray anomaly syndrome (? same as Pallister ulnar-mammary syndrome) | AD? | Unilateral renal agenesis |
269250 | Schneckenbecken dysplasia, macrocephaly, short limbs, edema, narrow thorax, dumbbell-shaped long bones, wide fibula, platyspondyly, wide vertebral bodies, characteristic “snail-shaped” pelvis, lethal | AR | Renal cystic dysplasia |
263530 | Short-rib- polydactyly syndrome type 1 | AR | Renal cystic dysplasia, renal agenesis |
263520 | Short-rib- polydactyly syndrome type 2 (Mohn-Majewski) | AR | Renal cystic dysplasia |
263610 | Short-rib- polydactyly syndrome type 3 (Verma-Naumoff) | AR | Renal dysplasia |
183802 | Split hand (syndactyly-spina bifida-obstructive uropathy) | AD | Ureteral atresia, megaloureter, hydronephrosis |
271520 | Spondylocostal dysostosis-visceral defects-Dandy-Walker cyst syndrome | Possibly AR | Renal hypoplasia, renal dysplasia, ureterovesical stenosis |
271650 | Spondyloepimetaphyseal dysplasia | AR (Irapa) and AD (Minnesota) types | Hydronephrosis |
183900 | Spondyloepiphyseal dysplasia congenita (severe lethal forms), short limbs and trunk, short neck, barrel chest, flat face, cleft palate, delayed bone age, poor ossification of pubis, coronal clefts in vertebrae with platyspondyly, lethal | Most are AD | Renal cystic dysplasia |
108720 | Atelosteogenesis (spondylohumerofemoral hypoplasia); rhizomelic limb shortening; bowing, dislocation of elbows/knees; talipes equinovarus; depressed nasal bridge; cleft palate; hypoplastic thoracic vertebral bodies and ribs; short humeri and femora; absence of ossification of some phalanges and metacarpals; lethal | Sporadic | Renal cystic dysplasia |
187600 | Thanatophoric dysplasia (and variants), very short limbs and digits, large head, depressed nasal bridge, narrow thorax, occasionally cloverleaf skull, very flat vertebral bodies, shortening and bowing of long bones, short ribs, lethal | Sporadic | Hydronephrosis, renal cystic dysplasia |
Ulbright syndrome (renal dysplasia, mesomelia, radio-humeral fusion) | AR | Renal hypoplasia, dysplasia | |
Immunodeficiency | |||
300300 | Agammaglobulinemia, infantile (Bruton) | XL | Amyloidosis, glomerulonephritis (autoimmune) |
120550, 120570 | Complement deficiency C1q A chain and C1q B chain (complement component 1) syndromes with lupus-like symptoms | AD | Glomerulonephritis |
306400, 233690, 233700 | Granulomatous disease, chronic | XL, AR | Can cause glomerulonephritis |
308240 | Immunodeficiency, common variable | Uncertain AD or XL | Autoimmune changes (like SLE), amyloidosis |
102700 | Immunodeficiency syndrome, combined type, adenosine deaminase deficiency | AR | Glomerular mesangial sclerosis |
308230 | Immunodeficiency, X-linked, with hyper-IgM | XL | Glomerulonephritis |
137100 | Immunoglobulin A deficiency | Heterogeneous | Scleroderma, SLE-like changes |
Infantile (Bruton) agammaglobulinemia | Heterogeneous | Nephrolithiasis, hydronephrosis | |
243340 | Ischemic hypoplasia-renal dysfunction immunodeficiency syndrome | AR | Renal dysfunction, mechanism? |
242900 | Schimke spondyloepiphyseal dysplasia immune defect (immunoosseous dysplasia) syndrome | AR | Immune complex glomerulonephritis, renal failure |
Appendix 3: Renal and Urinary Tract Abnormalities in Chromosomal Defects
Name of syndrome | Chromosomal defects |
---|---|
Trisomies | |
Trisomy distal 2q | Urinary tract anomalies |
Trisomy 3p | Renal anomalies |
Trisomy 3q | Renal cystic dysplasia |
Trisomy 3q, partial (de Lange syndrome) | Renal, urinary tract anomalies |
Trisomy 4p | Renal anomalies |
Trisomy distal 4q | Renal anomalies |
Trisomy 5p | Hydronephrosis |
Trisomy 6p | Urinary tract anomalies |
Trisomy 7 mosaic | Renal agenesis, unilateral or bilateral |
Trisomy 8 | Obstructive uropathy with hydronephrosis, posterior urethral valves with hydroureters and hydronephrosis |
Trisomy 9 | Bilateral cystic dysplastic kidneys, atresia of proximal ureters, rudimentary atretic urinary bladder, microcysts of kidneys, double ureters, bladder diverticulum |
Trisomy 10p | Renal anomalies, renal cysts, unilateral renal agenesis |
Trisomy 10q | Renal anomalies |
Trisomy 11p | Wiedemann-Beckwith syndrome |
Trisomy 11q | Urinary tract anomalies |
Trisomy 12p | Renal malformations |
Trisomy 13 | Duplication of kidneys and ureters, unilateral renal agenesis, stenosis of prostatic urethra, excessive renal arteries and veins, micro-multicystic or pluricystic kidneys, adult-type polycystic kidneys, excessive fetal lobulations, cystic dysplasia, segmental cystic dysplasia, cystic dilation of collecting system, hydronephrosis, ureteropelvic junction atresia, Wilms tumor |
Trisomy distal 15q | Renal agenesis, recurrent urinary tract infections |
Trisomy 17q | Renal anomalies |
Trisomy 18 | Cystic kidneys, horseshoe kidneys, ureteral duplication, renal duplication, renal dysplasia, renal agenesis, renal ectopy, renal glomerulosclerosis and cystic tubules, persistent metanephric blastema, micromulticystic kidneys, reduction of fetal lobulation, Wilms tumor |
Trisomy 20p | Renal anomalies |
Trisomy 21-Down syndrome | Renal dysplasia, nodular renal blastema, persistent fetal lobulation, retardation of maturation of nephrogenic zone of cortex, hemangioma, stricture of ureteropelvic junction, hydronephrosis, focal cystic malformation of collecting tubules, immature, glomeruli, glomerular cysts |
Trisomy 22 | Unilateral or bilateral |
Deletions | |
5p (del(5p)) syndrome | Unilateral renal agenesis |
9p-(del(9p)) syndrome | Hydronephrosis and horseshoe kidneys, micropenis, hypospadias, and/or cryptorchidism in males |
11p-(del(11p)) syndrome and Wilms tumor | Wilms tumor, sometimes bilateral, disorganization of renal parenchyma, medullary origin of Wilms tumor |
17p-(del(17p)) (Miller-Dieker syndrome) | Bilateral double collecting system, hydronephrosis and abnormal caliceal patterns, fetal lobulations, cystic kidneys, agenesis |
18q-(del(18q)) syndrome | Cryptorchidism and hypospadias in males, horseshoe kidneys, bilateral cortical nephroblastomatosis |
del(21) | Hypoplastic kidneys, unilateral renal agenesis, renal cystic dysplasia |
Duplications | |
dup(lp) | Ambiguous genitalia |
dup(2p), dup(3q), dup(9p), dup(15q) | Horseshoe kidneys |
dup(3q), del(4p), del(11q), dup(3p), dup(10p), dup(12p), r(13), dup(13q), dup(14q) r(15) | Duplication of kidneys and/or ureters |
dup(3q), del(4q), dup(4q), dup(5p), dup(6p) dup(8q), (10), del (11q), dup(17p), dup(19q) | Hydronephrosis |
dup(3q), dup(10p), dup(lq), del(4p), r(22) | Cysts in kidneys |
dup (4p) | Unilateral hydronephrosis, pelvic displacement of kidneys with caliceal ectasia, bilateral intrarenal pelvis and excessive rotation of kidneys, hypoplastic kidneys |
dup (10q) | Cystic renal dysplasia, hydronephrosis |
dup (20p) | Unilateral hydronephrosis with duplicated collecting system, hypospadias and cryptorchidism in males dup (3q) partial Brachmann de Lange syndrome |
Monosomies | |
Monosomy 1q | Hydronephrosis, unilateral renal agenesis, penile urethra |
Monosomy medial 2q | Renal hypoplasia |
Monosomy 3p | Renal cystic dysplasia |
Monosomy 4p (Wolf-Hirschhorn syndrome) | Renal anomalies, oligonephronic hypoplasia |
Monosomy distal 4q | Renal anomalies |
Monosomy 5p (cri du chat syndrome) | Renal anomalies |
Monosomy interstitial 5q | Renal anomalies |
Monosomy proximal 6q | Renal ectopia |
Monosomy 10p | Urinary tract anomalies |
Monosomy 10q | Hydronephrosis, urinary tract infections, renal failure |
Monosomy 11p | Wilms tumor |
Monosomy 11q | Hydronephrosis, renal duplication |
Monosomy 12p | Double ureter |
Monosomy 16q | Renal hypoplasia |
Monosomy 18q | Renal anomalies |
Monosomy 21 | Unilateral renal agenesis, renal cystic dysplasia |
Ring chromosomes | |
Ring chromosome 13 | Renal hypoplasia and agenesis |
Ring chromosome 15 | Renal anomalies |
Ring chromosome 22 | Ureteropelvic stenosis, renal cysts |
Other rare chromosome abnormalities | |
Chromosome abnormalities in renal cell carcinoma | Abnormal caliceal collecting system, unilateral aplasia, cystic kidneys, renal dysplasia |
Triple X | Bilateral renal agenesis |
45X (Turner) | Horseshoe kidney; hydroureter; hypertension, renal or secondary to coarctation |
45 (Ullrich-Turner) | Horseshoe kidneys, double or clubbed renal pelvis, hypoplasia, hydronephrosis, bifid ureters, duplication of kidneys and/or ureters, unilateral renal agenesis, renal hypoplasia, retrocaval ureter with massive hydronephrosis, micromulticystic kidneys, membranoproliferative glomerulonephritis with persistent complement activation |
47,XXX | Bilateral renal agenesis |
47,XYY | Microcysts of kidneys, thin ureters, small bladder, cystic dysplastic kidneys |
47,XXY, 48,XXXY, 49,XXXXY (Klinefelter syndromes) | Cryptorchidism, small testes, and hypoplastic scrotum in males; hydronephrosis, hydroureter, and ureterocele |
Triploidy | |
Tetrasomy 18p | Horseshoe kidney, double ureter |
Triploidy | Micromulticystic kidneys, hypoplasia, hydronephrosis, cryptorchidism, hypospadias, labia majora-like structures |
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Gilbert-Barness, E., Spicer, D.E., Steffensen, T.S. (2014). Renal System. In: Handbook of Pediatric Autopsy Pathology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6711-3_12
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