Summary
According to the classification of Osathanondh and Potter of cystic kidneys we give an overview of the different types of cystic changes taking genetic aspects into account. Usually pathoanatomic types do not represent genetic entities: All type I kidneys are transmitted in an autosomal recessive way with varying clinical symptoms; in rare cases they even present in adults. The relationship to “congenital hepatic fibrosis”, “cystic liver”, and to the “Caroli syndrome” is discussed. Type II kidneys are usually not genetic in origin; but they may occur as part of several syndromes. Rarely genetic factors might contribute to type II kidneys that may present as familial cases of Potter syndrome (“renal non-function syndrome”). Type IV kidneys, although different in their pathoanatomic picture can be regarded according to a common pathogenetic theory as part of the spectrum of malformations as in type II. Therefore the genetic interpretation of type II kidneys also applies to type IV lesions. Type III kidneys include autosomal dominant polycystic kidney disease. This type may already present in childhood; the first prenatal diagnosis by ultrasonography is described in detail. Furthermore type III changes are part of syndromes or non-hereditary malformation complexes, and often present only as mild manifestations. Diseases with isolated involvement of the medulla (juvenile nephronophthisis/medullary cystic disease) or cortex are described as part of the differential diagnosis, they are heterogeneous and genetically only partly understood. Syndromes with cystic kidneys are reviewed as well as the possibilities of prenatal diagnosis of cystic diseases. Reliable prenatal diagnosis is only possible in type II, and possible in some of the other types. The nosology is improved if genetic information is taken into account.
Similar content being viewed by others
References
Abreo K, Steele TH (1982) Simultaneous medullary sponge and adult polycystic kidney disease. Arch Intern Med 142:163–165
Ambrose SS, Gould RA, Trulock TS, Parrott TS (1982) Unilateral multicystic renal disease in adults. J Urol 128:366–369
Anderson D, Tannen RL (1969) Tuberous sclerosis and chronic renal failure. Am J Med 47:163–168
Anton PA, Abramowsky CR (1982) Adult polycystic renal disease presenting in infancy: a report emphasizing the bilateral involvement. J Urol 128:1290–1291
Aula P, Karjalainen O, Rapola J, Lindgren J, Seppälä M (1977) Prenatal diagnosis of the Meckel syndrome. Am J Obstet Gynecol 129:700–702
Avner ED, Ellis D, Jaffe R, Bowen A (1982) Neonatal radiocontrast nephropathy simulating infantile polycystic kidney disease. J Pediatr 100:85–87
Baert L (1978) Hereditary polycystic kidney disease (adult form): a microdissection study of two cases at an early stage of the disease. Kidney Int 13:519–525
Bagg HJ (1925) Hereditary abnormalities of the viscera. Am J Anat 36:275–303
Barry JE, Auldist AW (1974) The VATER association: one end of a spectrum of anomalies. Am J Dis Child 128:769–771
Bauman ML, Hogan GR (1973) Laurence-Moon-Biedl syndrome. Am J Dis Child 126:119–126
Baxter TJ (1965) Cysts arising in the renal corpuscle: a microdissection study. Arch Dis Child 40:455–463
Bear JC, McManamon P, Morgan J, Payne RH, Lewis H, Gault MH, Churchill DN (1984) Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling. Am J Med Genet 18:45–53
Begleiter ML, Smith TH, Harris DJ (1977) Letter: ultrasound for genetic counselling in polycystic kidney disease. Lancet II:1073–1074
Bengtsson U, Hedman L, Svalander C (1975) Adult type of polycystic kidney disease in a new-born child. Acta Med Scand 197:447–450
Berstein J (1971) The morphogenesis of renal parenchymal maldevelopment (renal dysplasia). Pediatr Clin North Am 18:395–407
Bernstein J (1976) A classification of renal cysts. In: Gardner DK Jr (ed) Cystic diseases of the kidney. Wiley and sons, New York London Sydney Toronto, pp 7–30
Berstein J, Viranuvatti V, Boyer JL (1975) What is Caroli's disease? Gastroenterology 63:417–419
Berrebi G, Erickson RP, Marks BW (1982) Autosomal dominant polycystic liver disease: a second family. Clin Genet 21:342–347
Bjerle P, Lindqvist B, Michaelson G (1971) Pressure measurements in renal cysts. Scand J Clin Lab Invest 27:135–138
Black IL, Fitzsimmons J, Fitzsimmons E, Thomas AJ (1982) Parental consanguinity and the Majewski syndrome. J Med Genet 19:141–157
Blair JD (1976) Trisomy C and cystic dysplasia of kidneys, liver and pancreas. Birth Defects XII 5:139–149
Blank CE (1960) Apert's syndrome (a type of acrocephalosyndactyly) — observations on a British series of thirty-nine cases. Ann Hum Genet 24:151–164
Blight EM, Biggers RD, Soderdahl DW, Brosman SA, Lamiell JM, Raleigh EN (1980) Bilateral renal masses. J Urol 124:695–700
Bloom DA, Brosman S (1978) The multicystic kidney. J Urol 120:211–215
Blyth H, Ockenden BG (1971) Polycystic disease of kidneys and liver presenting in childhood. J Med Genet 8:257–284
Böhm N, Uy J, Kießling M, Lehnert W (1982) Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis. Eur J Pediatr 139:60–65
Boggs LD, Kimmelstiel P (1956) Benign multilocular cystic nephroma: report of two cases of so-called multilocular cysts of the kidney. J Urol 76:530–541
Bommer J, Waldherr R, van Kaick G, Strauss L, Ritz E (1980) Acquired renal cysts in uremic patients—in vivo demonstration by computed tomography. Clin Nephrol 14:299–303
Bovicelli L, Rizzo N, Orsini LF, Michelacci L (1980) Prenatal diagnosis of the prune belly syndrome. Clin Genet 18:79–82
Braasch WF, Schacht FW (1933) Pathological and clinical data concerning polycystic kidney. Surg Gynecol Obstet 57:467–475
Braun O, Gross H (1956) Zur Kenntnis der eigenartigen mit Nierenfehlbildungen kombinierten Gesichtsveränderung (dysplasia renofacialis). Virchows Arch (Pathol Anat) 329:433–452
Bricker NS, Patton JF (1955) Cystic disease of the kidney. Am J Med 18:207–219
Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM (1973) Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilk 115:111–129
Burn J, Marwood RP (1982) Fraser syndrome presenting as bilateral renal agenesis in three sibs. J Med Genet 19:360–361
Burton BK, Dillard RG (1984) Brief clinical report: prune belly syndrome: observations supporting the hypothesis of abdominal overdistention. Am J Med Genet 17:669–672
Cain DR, Griggs D, Lackey DA, Kagan BM (1974) Familial renal agenesis and total dysplasia. Am J Dis Child 128:377–380
Cairns HWB (1925) Heredity in polycystic disease of the kidneys. O J Med 18:359–392
Calabrese G, Vagelli G, Cristofano C, Barsotti G (1982) Behaviour of arterial pressure in different stages of polycystic kidney disease. Nephron 32:207–208
Campbell DR, Mason WF, Standen JR (1978) Renal arteriography in von Hippel-Lindau disease. J Can Assoc Radiol 29:243–246
Campbell JS, Zaidi ZH (1962) Hematometrocolpos in the newborn. Arch Pathol Lab Med 73:179–183
Caramia G, Di Battista C, Botticelli A (1970) La sindrome di Goldenhar. Minerva Pediatr 22:362–367
Carey JC, Eggert L, Curry CJR (1982) Lower limb deficiency and the urethral obstruction sequence. Birth Defects XVIII 3B:19–28
Carmi R, Binshtock M, Abeliovich D, Bar-Ziv J (1983) The branchiooto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs. Am J Med Genet 14:625–627
Carone FA, Rowland RG, Perlman SG, Ganote CE (1974) The pathogenesis of drug-induced renal cystic disease. Kidney Int 5:411–421
Chagnon JP, Barge J, Hay JM, Devars du Mayne JF, Richard JP, Hardouin JP (1982) Fibrose hépatique congénitale, polykystose rénale et lymphangiectasies intestinales primitives. Gastroenterol Clin Biol 6:326–332
Chanmugam D, Rasaretnam R, de Karunaratne KES (1971) Hereditary spherocytosis and polycystic disease of the kidneys in four members of a family. Am J Hum Genet 23:66
Chen H, Yang SS, Gonzalez E, Fowler M, Saadi AA (1980) Short rib-polydactyly syndrome, Majewski type. Am J Med Genet 7:215–222
Chester AC, Argy WP (1979) Polycystic kidney disease: diagnosis and management. South Med J 72:1582–1586
Chester AC, Harris JP, Schreiner GE (1977) Polycystic kidney disease. Am Fam Physician 16:94–101
Chester AC, Argy WP, Rakowski TA, Schreiner GE (1978) Polycystic kidney disease and chronic hemodialysis. Clin Nephrol 10:129–133
Chester AC, Geoly K, Schreiner GE, Preuss HG (1981) Early diagnosis of polycystic kidney disease. Am Fam Physician 23:175–181
Chevalier RL, Garland TA, Buschi AJ (1981) The neonate with adult-type autosomal dominant polycystic kidney disease. Int J Pediatr Nephrol 2:73–77
Claudy A, Toulon J, Dutoit M, Sabatier JC, Berthoux FC (1981) Maladie de Darier et polykystose rénale. Ann Dermatol Venereol 108:675–677
Cole BR, Kaufman RL, McAlister WH, Kissane JM (1976) Bilateral renal dysplasia in three siblings: report of a survivor. Clin Nephrol 5:83–87
Cole BR, Walker FC, Loney LC, Root ER, Melson GL, McAlister W (1983) Diagnostic evaluation of adult polycystic kidney disease (APCKD) in children. Eur J Pediatr 140:177
Conley ME, Beckwith JB, Mancer JFK, Tenckhoff L (1979) The spectrum of the DiGeorge syndrome. J Pediatr 94:883–890
Côté GB, Tsomi K, Papadakou-Lagoyanni S, Petmezaki S (1978) Oligohydramnios syndrome and XYY karyotype. Ann Genet (Paris) 21:226–228
Côté GB (1981) Potter's syndrome and chromosomal anomalies. Hum Genet 58:220
Crawfurd MA (1978) Renal dysplasia and asplenia in two sibs. Clin Genet 14:338–344
Crocker JFS, Brown DM, Borch RF, Vernier RL (1972) Renal cystic disease induced in newborn rats by diphenylamine derivatives. Am J Pathol 66:343–350
Cuppage FE, Huseman RA, Chapman A, Grantham JJ (1980) Ultrastructure and function of cysts from human adult polycystic kidneys. Kidney Int 17:372–381
Dalgaard OZ (1957) Bilateral polycystic disease of the kidney: a follow-up of two hundred eighty-four patients and their families. Acta Med Scand (Suppl) 328, also E. Munksgaard, Copenhagen
Danks DM, Tippett P, Adams C, Campbell P (1975) Cerebro-hepatorenal syndrome of Zellweger. J Pediatr 86:382–387
Darnis F, Nahum H, Mossé A, Berge J, Moreau C (1970) Fibrose hépatique congénitale à préscession clinique rénale. Presse Med 78:885–888
Dausset J, Hors J (1975) Some contributions of the HLA complex to the genetics of human diseases. Transplant Rev 22:44–74
del Pino Montes J, Chimpen Ruiz V, Sanchez Garcia P, Pascual Gonzalez F, Garcia Legido A, Fermosa Garcia J, de Prtugal Alvarez J (1983) Poliposis adenomatosa familiar asociada a enfermedad poliquistica renal del adulto. Med Clin (Barc) 81:595
Dieker H, Edwards RH, ZuRhein G, Chou SM, Hartman HA, Opitz JM (1969) The lissencephaly syndrome. Birth Defects V 2:53–64
Dieterich E, Straub E (1980) Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia. Helv Paediatr Acta 35:261–267
Doege TC, Thuline HC, Priest JH, Norby DE, Bryant JS (1964) Studies of a family with the oral-facial-digital syndrome. N Engl J Med 271:1073–1080
Dunnill MS, Millard PR, Oliver D (1977) Acquired cystic disease of the kidneys: a hazard of long-term intermittent maintenance hemodialysis. J Clin Pathol 30:868–877
Dyer PA, Watters EA, Klouda PT, Harris R, Mallick NP (1982) Absence of linkage between adult polycystic kidney disease and the major histocompatibility system. Tissue Antigens 20:108–111
Eagle JF, Barrett GS (1950) Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: a syndrome. Pediatrics 6:721–736
Edelson PJ, Spackman TJ, Belliveau RE, Mahoney MJ (1974) A renal lesion in asphyxiating thoracic dysplasia. Birth Defects X 4:51–56
Egli F, Stalder G (1973) Malformations of kidney and urinary tract in common chromosomal aberrations. Humangenetik 18:1–15
Ekström T (1955) Renal hypoplasia. Acta Chir Scand (Suppl) 203:1–168
Emery AEH, Oleesky S, Williams RT (1967) Myotonic dystrophy and polycystic disease of the kidneys. J Med Genet 4:26–28
Ericsson NO, Ivemark BI (1958) Renal dysplasia and pyelonephritis in infants and children. Arch Pathol 66:255–263 (part I), 264–269 (part II)
Eulderink F, Hogewind BL (1978) Renal cysts in premature children. Arch Pathol Lab Med 102:592–595
Evan AP, Gardner KD Jr (1979) Nephron obstruction in nordihydroguaiaretic acid-induced renal cystic disease. Kidney Int 15:7–19
Evan AP, Gardner KD Jr, Bernstein J (1979) Polypoid and papillary epithelial hyperplasia: a potential cause of ductal obstruction in adult polycystic disease. Kidney Int 16:743–750
Feiner HD, Katz LA, Gallo GR (1981) Acquired cystic disease of kidney in chronic dialysis patients. Urology 17:260–264
Fellows RA, Leonidas JC, Beatty EC (1976) Radiologic features of “adult type” polycystic kidney disease in the neonate. Pediatr Radiol 4:87–92
Ferran JL, Couture A, Veyrac C, Barneon G, Galifer RB (1982) Kyste du rein et hémi-hypertrophie corporelle congénitale. Ann Radiol (Paris) 25:136–141
Ferrandez A, Schmid W (1971) Potter-Syndrom (Nierenagenesie) mit chromosomaler Aberration beim Patient und Mosaik beim Vater. Helv Paediatr Acta 26:210–214
Fisher CC, Warren PS (1980) Early diagnosis of Meckel;s syndrome. Aust NZ J Obstet Gynaecol 20:53–54
Fitch N (1977) Heterogeneity of bilateral renal agenesis. Can Med Assoc J 116:381–382
Fitch N, Lachance RC (1972) The pathogenesis of Potter's syndrome of renal agenesis. Can Med Assoc J 107:653–656
Fitch N, Srolovitz H (1976) Severe renal dysgenesis produced by a dominant gene. Am J Dis Child 130:1356–1357
Fowler M (1971) Differentiated nephroblastoma. Solid, cystic or mixed. J Pathol 105:215–218
Franz KA, Reubi FC (1983) Rate of functional deterioration in polycystic kidney disease. Kidney Int 23:526–529
Fraser FC, Lytwyn A (1981) Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”. Am J Med Genet 9:67–73
Fraser FC, Sproule JR, Halal F (1980) Frequency of the branchio-otorenal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 7:341–349
Freeman MVR, Williams DW, Schimke RN, Temtamy SA, Vachier E, German J (1974) The Roberts syndrome. Clin Genet 5:1–16
Fried K, Liban E, Lurie M, Friedman S, Reisner SH (1971) Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. J Med Genet 8:285–290
Friedrich U, Hansen KB, Hauge M, Hägerstrand I, Kristoffersen K, Ludvigsen E, Merrild U, Norgaard-Pedersen B, Petersen GB, Therkelsen AJ (1979) Prenatal diagnosis of polycystic kidneys and encephalocele (Meckel syndrome). Clin Genet 15:278–286
Frimodt-Møller PC, Nissen HM, Dyreborg U (1981) Polycystic kidneys as the renal lesion in Lindau's disease. J Urol 125:868–870
Frydman M, Magenis RE, Mohandas TK, Kaback MM (1983) Chromosome abnormalities in infants with prune belly anomaly: association with trisomy 18. Am J Med Genet 15:145–148
Fryns JP, van den Berghe H (1979) Letter: “Adult” form of polycystic kidney disease in neonates. Clin Genet 15:205–206
Gäbel H, Brynger H (1980) Renal transplantation in patients with polycystic kidney disease in Gothenburg. Scand J Urol Nephrol (Suppl) 54:76–78
Gardner KD Jr (1969) Composition of fluid in twelve cysts of a polycystic kidney. N Engl J Med 281:985–988
Gardner KD Jr (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla. Ann Intern Med 74:47–54
Gardner KD Jr (1976) Juvenile nephronophthisis and renal medullary cystic disease. In: Gardner KD Jr (ed) Cystic diseases of the kidney. Wiley and sons, New York London Sydney Toronto, pp 173–185
Gardner KD, Evan AP (1979) The nephronophthisis-cystic renal medulla complex. In: Hamburger J, Crosnier J, Grünfeld JP (eds) Nephrology. Willy, New York, pp 893–907
Gardner KD Jr, Solomon S, Fitzgerrel WW, Evan AP (1976) Function and structure in the diphenyl-exposed kidney. J Clin Invest 57:796–806
Garrett WJ, Grunwald G, Robinson DE (1970) Prenatal diagnosis of fetal polycystic kidney by ultrasound. Aust NZ J Obstet Gynaecol 10:7–9
Geller RA, Pataki KI, Finegold RA (1979) Bilateral multilocular renal cysts with recurrence. J Urol 121:808–810
Göcke H, Muradow I, Eldering G, Gullotta F (1982) Das Meckel-Syndrom bei einem Neugeborenen. Geburtshilfe Frauenheilkd 42:602–604
Golbus MS, Harrison MR, Filly RA, Callen PW, Katz M (1982) In utero treatment of urinary tract obstruction. Am J Obstet Gynecol 142:383–388
Goldstone AS, Burke EC, D'Agostino A, McCaughey WTE (1963) Neonatal polycystic kidney with brain defect. Am J Dis Child 106:484–488
Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E (1963) Oculoauriculovertebral dysplasia. J Pediatr 63:991–999
Greene LF, Feinzaig W, Dahlin DC (1971) Multicystic dysplasia of the kidney with special reference to the contralateral kidney. J Urol 105:482–487
Griscom NT (1965) The roentgenology of neonatal abdominal masses. AJR 93:447–463
Grix A, Curry C, Hall BD (1982) Patterns of multiple malformations in infants of diabetic mothers. Birth Defects 18, 3A:55–77
Grossman H, Seed W (1966) Congenital fibrosis, bile duct dilatation and renal lesions resembling medullary sponge kidney: congenital “cystic” disease of the liver and kidneys. Radiology 87:46–48
Grossman H, Winchester PH, Chisari FV (1968) Roentgenographic classification of renal cystic disease. AJR 104:319–331
Grote W, Weisner D, Jänig U, Harms D, Wiedemann HR (1983) Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation. Eur J Pediatr 140:63–66
Gruskin AB, Baluarte HJ, Cote ML, Elfenbein IB (1974) The renal disease of thoracic asphyxiant dystrophy. Birth Defects X, 4:44–50
Gwinn JL, Landing BH (1968) Cystic disease of the kidneys in infants and children. Radiol Clin North Am 6:191–204
Habif DV, Berdon WE, Yeh MN (1982) Infantile polycystic kidney disease: in utero sonographic diagnosis. Radiology 142:475–477
Halal F, Desgranges MF, Leduc B, Thêorét G, Bettez P (1980) Acrorenal-mandibular syndrome. Am J Med Genet 5:277–284
Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wigelsworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47–74
Harris RE, Fuchs EF, Kaempf MJ (1981) Medullary sponge kidney and congenital hemihypertrophy: case report and literature review. J Urol 126:676–678
Harrison AR, Williams JP (1971) Medullary sponge kidney and congenital hemihypertrophy. Br J Urol 43:522–561
Harrod MJE, Stokes J, Peede LF, Goldstein JL (1976) Polycystic kidney disease in a patient with the oral-facial-digital syndrome-type I. Clin Genet 9:183–186
Hartnett M, Bennett W (1976) Extrarenal manifestations of cystic kidney disease. In: Garnder KD Jr (ed) Cystic diseases of the kidney. Wiley and sons. New York London Sydney Toronto, pp 201–219
Hatfield PM, Pfister RC (1972) Adult polycystic disease of the kidneys (Potter type 3). JAMA 222:1527–1531
Hauke H, Weicker H (1965) Thalidomid-Embryopathie: V. Die Nierenfehlbildungen. Disch Med Wochenschr 90:2200–2204
Henneberry MO, Stephens FD (1980) Renal hypoplasia and dysplasia in infants with posterior urethral valves. J Urol 123:912–915
Herdman RC, Langer LO (1968) The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child 116:192–201
Hildebrand (1894) Weiterer Beitrag zur pathologischen Anatomie der Nierengeschwülste. Langenbecks Arch Klin Chir 48:343–371
Hobbins JC, Grannum PAT, Berkowitz RL, Silverman R, Mahoney MJ (1979) Ultrasound in the diagnosis of congenital anomalies. Am J Obstet Gynecol 134:331–345
Hockley BJ, Robinson MF, Tucker WG, Lawrence JR (1978) Combined polycystic and medullary sponge renal disease. Australas Radiol 22:315–318
Hogewind BL, Veltkamp JJ, Koch CW, de Graeff J (1980) Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis. Clin Genet 18:168–172
Hunter AGW, Rothman SJ, Hwang WS, Deckelbaum RJ (1974) Hepatic fibrosis, polycystic kidney, colobomata, and encephalopathy in siblings. Clin Genet 6:82–89
Hurley RM, Dery P, Nogrady MB, Drummond KN (1975) The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr 87:206–209
Huschens M (to be published) Potter-I-Syndrom — Darstellung anhand von eigenen Fällen und Beobachtungen aus der Literatur mit besonderer Berücksichtigung genetischer Faktoren. Thesis, University of Mainz
Huseman R, Grady A, Welling D, Grantham J (1980) Macropuncture study of polycystic disease in adult human kidneys. Kidney Int 18:375–385
Iannuccilli EA, Yu PP (1981) Adult fibropolycystic liver disease and symptomatic portal hypertension. RI Med J 64:551–554
Imahori S, Bannerman RM, Graf CJ, Brennan JC (1969) Ehlers-Danlos syndrome with multiple arterial lesions. Am J Med 47:967–977
Ishikawa I, Saito Y, Onouchi Z, Kitada H, Suzuki S, Kurihara S, Yuri T, Shinoda A (1980) Development of acquired cystic disease and adenocarcinoma of the kidney in glomerulonephritic chronic hemodialysis patients. Clin Nephrol 14:1–6
Ivemark BJ, Oldfelt V, Zetterström R (1959) Familial dysplasia of kidneys, liver and pancreas. A probable genetically determined syndrome. Acta Paediatr Scand 48:1–11
Jaatoul NY, Haddad NE, Khoury LA, Afifi AK, Bahuth NB, Deeb ME, Mikati MA, der Kaloustian VM (1982) Brief clinical report and review: the Marden-Walker syndrome. Am J Med Genet 11:259–271
Jabs EW, Leonhard CO, Phillips JA (1982) New features of the McKusick-Kaufman syndrome. Birth Defects XVIII, 3B:161–166
Jakobsen A, Birkeland SA, Gäbel H, Fjelborg O, Halvorsen S, Ladefoged J, Lundgren G, Konrad P, Wallenius M, Wikström B, Flatmark A (1980) Renal transplantation in polycystic renal disease—a joint Scandinavian report. Scand J Urol Nephrol (Suppl) 54:71–75
Jann FX (1982) Urogenitale Missbildungen. Swiss Med 4:83–86
Jensen PKA, Hansen P (1981) A bisatellited marker chromosome in an infant with the caudal regression anomalad. Clin Genet 19: 126–129
Jørgensen M (1973) A sterological study of intrahepatic bile ducts. 3. Infantile polycystic disease. Acta Pathol Microbiol Scand (A) 81:670–675
Jørgensen M (1974) A stereological study of intrahepatic bile ducts. 4. Congenital hepatic fibrosis. Acta Pathol Microbiol Scand (A) 82:21–29
Johnson VP (1975) Smith-Lemli-Opitz syndrome: review and report of two affected siblings. Z Kinderheilkd 119:221–234
Johnson VP, Petersen LP, Holzwarth DR, Messner FD (1982) Midtrimester prenatal diagnosis of short-limb dwarfism (Saldino-Noonan-syndrome). Birth Defects 18, 3A: 133–141
Juberg RC, Gilbert EF, Salsbury RS (1970) Trisomy C in an infant with polycystic kidneys and other malformations. J Pediatr 76:598–603
Jung JH, Luthy DA, Hirsch JH, Cheng EY (1982) Serial ultrasound of a pregnancy at risk for infantile polycystic kidney disease (IPKD). Birth Defects XVIII, 3A:173–179
Kaffe S, Rose JS, Godmilow L, Walker BA, Kerenyi T, Beratis N, Reyes P, Hirschhorn K (1977) Prenatal diagnosis of renal anomalies. Am J Med Genet 1:241–251
Kampmeier OF (1923) A hitherto unrecognized mode of origin of congenital renal cysts. Surg Gynecol Obstet 36:208–216
Katz M, Quagliorello J, Young BK (1979) Severe polycystic kidney disease in pregnancy. Obstet Gynecol 53:119–124
Kaye C, Lewy PR (1974) Congenital appearance, of adult-type (autosomal-dominant) polycystic kidney disease. J Pediatr 85:807–810
Kerr DNS, Warrick CK, Hart-Mercer J (1962) A lesion resembling medullary sponge kidney in patients with congenital hepatic fibrosis. Clin Radiol 13:85–91
Kieselstein M, Herman G, Wahrman J, Voss R, Gitelson S, Feuchtwanger M, Kadar S (1969) Mucocutaneous pigmentation and intestinal polyposis (Peutz-Jeghers-syndrome) in a family of Iraqi jews with polycystic kidney disease. Isr J Med Sci 5:81–90
Kissane JM (1966) Congenital malformations. In: Heptinstall RH (ed) Pathology of the kidney. Little, Brown and Company, Boston, pp 63–117
Klein W (1971) Genese und Klinik der polyzystischen Niere. Thesis, University of Erlangen-Nürnberg
Knöpfle G, Födisch HJ, Hansmann M (1982) Das Potter-Syndrom. Prä-und postnatale Diagnostik. Verh Dtsch Ges Pathol 66:278–284
Koletzko S, Koletzko B, Orlowski M, Kemperdick H (1982) Fehldiagnose “Polyzystische Nieren” bie vorübergehender Nephromegalie in der Neugeborenenperiode. Monatsschr Kinderheilkd 130:299–300
Kossow AS, Meek JM (1982) Unilateral adult polycystic kidney disease. J Urol 127:297–300
Kramer SA (1983) Current status of fetal intervention for congenital hydronephrosis. J Urol 130:641–646
Krous HF, Wenzl JE (1980) Familial renal cystic dysplasia associated with maternal diabetes mellitus. South Med J 73:85–86
Krous HF, Richie JP, Sellers B (1977) Glomerulocystic kidney. Arch Pathol Lab Med 101:462–463
Kučera J (1971) Rate and type of congenital anomalies among offspring of diabetic women. J Reprod Med 7:61–70
Kuiper JJ (1971) Medullary sponge kidney in three generations. NY State J Med 71:2665–2669
Kuiper JJ (1976) Medullary sponge, kidney. In: Gardner KD Jr (ed) Cystic diseases of the kidney. Wiley and sons, New York London Sydney Toronto, pp 151–171
Kurnit DM, Steele MW, Pinsky L, Dibbins A (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. J Pediatr 93:270–273
Lambert PP (1947) Polycystic disease of the kidney. Arch Pathol 44:34–58
Lamiell JM, Stor RA, Hsia YE (1980) von Hippel-Lindau disease simulating polycystic kidney disease. Urology 15:287–290
Landing BH, Gwinn JL, Lieberman E (1976) Cystic diseases of the kidney in children. In: Gardner KD Jr (ed) Cystic diseases of the kidney. Wiley and sons, New York London Sydney, Toronto, pp 187–200
Landing BH, Wells TR, Claireaux AE (1980) Morphometric analysis of liver lesions in cystic diseases of childhood. Hum Pathol 11 (Suppl): 549–560
Langer LO, Nishino R, Yamaguchi A, Ito Y, Ueke T, Togari H, Kato T Opitz JM, Gilber EF (1983) Brachymesomelia-renal syndrome. Am J Med Genet 15:57–65
Lazarus JM, Bailey GL, Hampers CL, Merrill JP (1971) Hemodialysis and transplantation in adults with polycystic renal disease. JAMA 217:1821–1824
Lazjuk GI, Lurie IW, Ostrowskaja TI, Kirillova, IA, Nedzved MK, Cherstovoy ED, Silyaeva NF (1980) The Wolf-Hirschhorn syndrome. Clin Genet 18:6–12
Lee KR, Wulfsberg E, Kepes JJ (1977) Some important radiological aspects of the kidney in Hippel-Lindau syndrome: the value of prospective study in an affected family. Radiology 122:649–653
Leenen FH, Galla SJ, Redmond DP, Vagnucci AH, McDonald RH Jr, Shapiro AP (1975) Relationships of the renin-angiotensinaldbosteone system and sodium balance to blood pressure regulation in chronic renal failure of polycystic kidney disease. Metabolism 24:589–603
Lehnert W, Wendel U, Lindenmaier S, Böhm N (1982) Multiple acyl-CoA dehydrogenation deficiency (glutaric acduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolic and biochemical findings. Eur J Pediatr 139:56–59
Lenarduzzi G (1939) Reperto pielografico poco commune (dilatazione delle vie urinarie intrarenali). Radiol Med (Torino) 26:346–347
Lennert T, Folkerts U (1979) Nierenveränderungen bei Laurence-Moon-Biedl-Syndrom. Nieren-und Hochdruckrankheiten 8:90
Lennert T, Schärer K, Brandis M (1979) Ocular abnormalities in nephronophthisis (N) Arch Dis Child 54:320
Leschot NJ, de Nef JJ, Becker-Bloemkolk MJ, Verjaal M, Wiesenhaan PF (1978) Prenatal diagnosis of Meckel syndrome. Hum Genet 43:333–336
Levey AS, Pauker SG, Kassirer JP (1983) Occult intracranial aneurysms in polycystic kidney disease. N Engl J Med 308:986–994
Levine AS, Michael AF (1967) Ehlers-Danlos syndrome with renal tubular acidosis and medullary sponge kidney. J Pediatr 71:107–113
Lieberman E, Salinas-Madrigal L, Gwinn JL, Brennan LP, Fine RN, Landing BH (1971) Infantile polycystic disease of the kidneys and liver: clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine (Baltimore) 50:277–318
Lilien T v., Bulla M, Roth B, Gladtke E (1983) Renale Dysplasie und damit verbundene Mißbildungen des Harntraktes. der kinderarzt 14:569–573
Lipton EL, Scordamaglia LJ (1957) Congenital unilateral multicystic kidney associated with maternal, rubella. J Pediatr 50:730–733
Lloyd LK, Witten DM, Bueschen AJ, Daniel WW (1978) Enhanced detection of asymptomatic renal masses with routine tomography during excretory urography. Urology 11:523–528
Loh JP, Haller JO, Lassner EG, Aloni A, Glassberg K (1977) Dominantly-inherited polycystic kidneys in infants. Association with hypertrophic pyloric stenosis. Pediatr Radiol 6:27–31
Lowry RB, Hill RH, Tischler B (1983) Survival and spectrum of anomalies in the Meckel syndrome. Am J Med Genet 14:417–421
Lubinsky M, Severn C, Rapoport JM (1983) Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet 14:461–466
Lufkin EG, Alfrey AC, Truckses ME, Holmes JH (1974) Polycystickidney disease (earlier diagnosis using ultrasound). Urology 4:5–12
Luoma PV, Sotaniemi EA, Ehnholm C (1980) Low high-density lipoprotein and reduced antipyrine metabolism in members of a family with polycystic liver disease. Scand J Gastroenterol 15:869–873
Lynne CM, Carrion HM, Bakshandeh K, Nadji M, Russel E, Politano VA (1979) Renal angiomyolipoma; polycystic, kidney, and renal cell carcinoma in a patient with tuberous sclerosis. Urology 14:174–176
Maas D, Schneider J (1975) Cystenniere und Schwangerschaft. Z Geburtshilfe Perinatol 179:61–67
Machin GA (1978) Urinary tract malformation in the XYY male. Clin Genet 14:370–372
Mackie GG, Stephens FD (1975) Duplex kidneys a correlation of renal dysplasia with position of the ureteral orfice. J Urol 114:274–280
Macurová H, Prát V, Ivašková E (1979) HLA antigeny u polycystických ledvin. Čas Lék Česk 118:1296–1298
Main D, Mennuti MT, Cornfeld D, Coleman B (1983) Prenatal diagnosis of adult polycystic kidney disease. Lancet II:337–338
Majewski F, Pfeiffer RA, Lenz W, Müller R, Reil G, Seiler R (1971) Polysyndaktylie, verkürzte Gliedmaßen und Genitafehlbildungen: Kennzeichen eines selbständigen Syndroms? Z Kinderheilkd 111:118–138
Majewski F, Stöß H, Goecke T, Kemperdick H (1983) Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome? Hum Genet 65:125–133
Marden PM, Walker WA (1966) A new generalized connective tissue syndrome. Am J Dis Child 112:225–228
Marquardt W (1935) Cystennieren, Cystenleber und Cystenpancreas bei zwei Geschwistern. Thesis, University of Tübingen
Mauseth R, Lieberman E, Heuser ET (1977) Infantile polycytic disease of the kidneys and Ehlers-Danlos syndrome in an 11-yearold patient. J Pediatr 90:81–83
Mayr WR, Maier U (1983) HLA-System und Adulter Typ der Zystenniere. Z Urol Nephrol 76:75–78
McAlister WH, Siegel MJ, Shackelford G, Askin F, Kissane JM (1979) Glomerulocystic kidney. AJR 133:536–538
McGeoch JEM, Darmady EM (1976) Polycystic disease of kidney, liver and panceras: a possible pathogenesis. J Pathol 119:221–228
McKusick VA (1983) Mendelian inheritance in man, 6th edn. The Johns Hopkins University Press, Baltimore London
McLean RH, Goldstein G, Conard FU, Rasoulpour M, Crawford B (1980) Autosomal dominant (adult) polycystic kidney disease in childhood. Conn Med 44:690–692
Mehrizi A, Rosenstein J, Pusch A, Askin JA, Taussig HB (1964) Myocardial infarction and endocardial fibroelastosis in children with polycystic kidneys. Bull Johns Hopkins Hosp 115:92–98
Melnick M, Hodes ME, Nance WE, Yune H., Sweeney A (1978) Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. Clin Genet 13:425–442
Méry JP, Simon P, Houitte H, Tanquerel T, Toulet R, Kanfer A (1978) A propos de deux observation de maladie polykystique rénale de l'adulte associée au syndrome, oral-facial-digital. J Urol Nephrol 84:892–893
Michel JM, Diggle JH, Brice J, Mellor DH, Small P (1983) Two halfsiblings with tuberous sclerosis, polycystic kidneys and hypertension. Dev Med Child Neurol 25:239–244
Mikelsaar AVN, Lazjuk GJ, Lurie JW, Tüür S, Käosaar ME, Mikelsaar R, Loolaid VE (1973) A 4p — syndrome. A case report. Humangenetik 19:345–347
Milutinovic J, Agodoa LY (1983) Potential cause and pathogenesis in autosomal dominant polycystic kidney disease. Nephron 33:139–144
Milutinovic J, Fialkow PJ, Rudd TG, Agodoa LY, Phillips LA, Bryant JI (1980a) Liver cysts in patients with autosomal dominant polycystic kidney disease. Am J Med 68:741–744
Milutinovic J, Phillips LA, Bryant JI, Fialkow PJ, Agodoa LY, Denney JD, Rudd TG (1980b) Autosomal dominant polycystic kidney disease: early diagnosis and data for genetic counselling. Lancet I:1203–1206
Milutinovic J, Fialkow PJ, Agodoa LY, Phillips LA, Bryant JI (1983) Fertility and pregnancy complications in women with autosomal dominant polycystic kidney disease. Obstet Gynecol 61:566–570
Mir S, Rapola J, Koskimies O (1983) Renal cysts in pediatric autopsy material. Nephron 33:189–195
Miranda D, Schinella RA, Finegold MJ (1972) Familial renal dysplasia: microdissection studies in siblings with associated central nervous system and hepatic malformations. Arch Pathol 93:483–491
Mitcheson HD, Williams G, Castro JE (1977) Clinical aspects of polycystic disease of the kidneys. Br Med J 1:1196–1199
Mitnick JS, Bosniak MA, Hilton S, Raghavendra BN, Subramanyam BR, Genieser NB (1983) Cystic renal disease in tuberous sclerosis. Radiology 147:85–87
Moerman P, Verbeken, E, Fryns JP, Goddeeris P, Lauweryns JM (1982) The Meckel syndrome. Pathological and cytogenetic observations in eight cases. Hum Genet 62:240–245
Moolten SE (1942) Hamartial nature of the tuberous sclerosis complex and its bearing on the tumor problem. Arch Intern Med 69:589–623
Morin PR, Potier M, Dallaire L, Melançon SB, Boisvert J (1981) Prenatal detection of the autosomal recessive type of polycystic kidney disease by trehalase assay in amniotic fluid. Prenatal Diagnosis 1:75–79
Morris RC, Yamauchi H, Palubinskas AJ, Howenstine J (1965) Medullary sponge kidney. Am J Med 38:883–892
Müller-Wiefel DE, Schärer K, Willich E, Klare B, v. Kaick G (1977) Diagnostik und klinischer Verlauf bei Cystennieren im Kindesalter. Monatsschr Kinderheilkd 125:327–328
Müntefering H, Schlüter I (1967) Beitrag zur Ätiologie der doppelseitigen Nierenagenesie. Z Morphol Anthropol 58:253–285
Murray-Lyon IM, Ockenden BG, Williams R (1973) Congenital hepatic fibrosis—is it a single clinical entity? Gastroenterology 64:653–656
Nadjmi B, Flanagan MJ, Christian JR (1969) Laurence-Moon-Bield syndrome. Am J Dis Child 117:325–356
Nakanuma Y, Terada T, Ohta G, Kurachi M, Matsubara F (1982) Caroli's disease in congenital hepatic fibrosis and infantile polycystic disease. Liver 2:346–354
Nemoy NJ, Forsberg L (1968) Polycystic renal disease presenting as medullary sponge kidney. J Urol 100:407–411
Nevin NC, Thompson W, Davison G, Horner WT, Horner WT (1979) Prenatal diagnosis of the Meckel syndrome. Clin Genet 15:1–4
Norris RF, Tyson RM (1947) The pathogenesis of polycystic livers. Am J Pathol 23:201–215
Nunn IN, Stephens FD (1961) The triad syndrome: a composite anomaly of the abdominal wall, urinry system and testes. J Urol 86:782–791
O'Callaghan TJ, Edwards JA, Tobin M, Mookerje BK (1975) Tuberous sclerosis with striking renal involvement in a family. Arch Intern Med 135:1082–1087
Oliver J (1960) A new look at the development of the nephrons and the kidney and their relations to renal cystic disease. In: Wollheim E (ed) Glomeruläre und tubuläre Nierenerkrankungen. Thieme, Stuttgart
Osathanondh V, Potter EL (1963a) Development of human kidney as shown by microdissection. I. Preparation of tissue with reasons for possible misinterpretations of observations. Arch Pathol 76:271–276
Osalthanondh V, Potter EL (1963b) Development of human kidney as shown by microdissection. II. Renal pelvis, calyces, and papillae. Arch Pathol 76:277–289
Osathanondh V, Potter EL (1963c), Development of human kidney as shown by microdissection. III. Formation and interrelationship of collecting tubules and nephrons. Arch Pathol 76:290–302
Osathanondh V, Potter EL (1964a) Pathogenesis of polycystic kidneys. Historical survey. Arch Pathol 77:459–465
Osathanondh V, Potter EL (1964b) Pathogenesis of polycystic kidneys. Type 1 due to hyperplasia of intersititial portions of collecting tubules. Arch Pathol 77:466–473
Osathanondh V, Potter EL (1964c) Pathogenesis of polycystic kidneys. Type 2 due to inhibition of ampullary activity. Arch Pathol 77:474–484
Osathanondh V, Potter EL (1964d) Pathogenesis of polycystic kidneys. Type 3 due to multiple abnormalities of development. Arch Pathol 77:485–501
Osathanondh V, Potter EL (1964e) Pathogenesis of polycystic kidneys. Type 4 due to urethral obstruction. Arch Pathol 77:502–509
Osterhage HR (1981) Über die Auswirkungen von Harnröhrenstenosen auf den oberen Harntrakt. Schattauer, Stutgart New York
Pashayan HM, Dowd T, Nigro AV (1977) Bilateral absence of the kidneys and ureters. Three cases reported in one family. J Med Genet 14:205–209
Pasíni J, Švajger A (1980) Histological differentiation and organogenesis of rat fetal kidneys after isotransplantation under the kidney capsule of adult rats. Eur Urol 6:357–360
Passarge E, Lenz W (1966) Syndrome of caudal regression in infants of diabetic mothers: observation of further cases. Pediatrics 37:672–675
Passarge E, McAdams AJ (1967) Cerebro-hepato-renal syndrome. J Pediatr 71:691–702
Pathak IG, Williams DI (1964) Multicystic and cystic dysplastic kidneys. Br J Urol 36:318–331
Pechan W, Novick AC, Braun WE, Nakamoto S, Popowniak K, Steinmuller D (1981) Management of end stage polycystic kidney disease with renal transplantation. J Urol 125:622–624
Peter K (1927) Untersuchungen über Bau und Entwicklung der Nier. Gustav Fischer, Jena
Pettersen JC (1983) Gross anatomical studies of a newborn with the Meckel syndrome. Teratology 28:157–164
Pfefferkorn JR, Löser H, Pöschel G (1981) Herzfehler bei Patienten mit VATER-Association. Pädiatr Prax 25:265–272
Potter EL (1946) Facial characteristics of infants with bilateral renal agenesis. Am J Obstet Gynecol 51:885–888
Potter EL (1972) Normal and abnormal development of the kidney. Year Book Medical Publishers, Chicago
Potter EL (1974) Oligohydramnios: further comment. J Pediatr 84:931–932
Potter EL, Craig JM (1975) The pathology of the fetus and the infant, 3rd edn. Year Book Medical Publishers, Chicago, p 434
Praga TM, Gallego JL, Gomez CF, Traver JA, Sanz GD, Botella J (1979) Rinones poliquistics del adulto. Med Clin (Barc) 73:319–323
Pramanik AK, Altshuler G, Light IJ, Sutherland JM (1977) Prunebelly syndrome associated with Potter (renal nofunction) syndrome. Am J Dis Child 131:672–674
Preminger GM, Koch WE, Fried FA, McFarland E, Murphy ED, Mandell J (1982) Murine congenital polycystic kidney disease: a model for studying development of cystic disease. J Urol 127:556–560
Preus M, Kaplan P, Kirkham TH (1977) Renal anomalies and oligohydramnios in the cerebro-oculo-facio-skeletal syndrome. Am J Dis Child 131:62–64
Probst P (1972) Häufigkeit, Komplikationen und Prognose der Nierendysplasie. Z Kinderheilkd 113:215–236
Proesmans W, Van Damme B, Casaer P, Marchal G (1982) Autosomal dominant polycystic kidney disease in the neonatal period: association with a cerebral arteriovenous malformation. Pediatrics 70:971–975
Rall JE, Odel HM (1949) Congenital polycystic disease of the kidney: review of literature and data on 207 cases. Am J Med Sci 218:399–407
Rehder H, Labbé F (1981) Prenatal morphology in Meckel's syndrome. Prenatal Diagnosis 1:161–172
Reilly BJ, Neuhause EBD (1960) Renal tubular ectasia in cystic disease of the kidneys and liver. AJR 84:546–554
Reilly KB, Rubin SP, Blanke BG, Yeh MN (1979) Infantile polycystic kidney disease: a difficult antenatal diagnosis. Am J Obstet Gynecol 133:580–582
Resnick JS, Brown DM, Vernier RL (1976) Normal development and experimental models of cystic renal disease. In: Gardner KD Jr (ed) Cystic diseases of the kidney. Wiley and sons, New York London Sydney Toronto, pp 221–241
Reznik VM, Griswold WT, Mendoza SA (1982) Glomerulocystic disease—a case report with 10 year follow-up. Int J Pediatr Nephrol 3:321–323
Ritter R, Siafarikas K (1976) Hemihypertrophy in a boy with renal polycystic disease: varied patterns of presentation of renal polycystic disease in his family. Pediatr Radiol 5:98–102
Rizzoni G, Loirat C, Levy M, Milanesi C, Zachello G, Mathieu H (1982) Familial hypoplastic glomerulocystic kidney. A new entity? Clin Nephrol 18:263–268
Rokkones T, Loken AC (1968) Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper OH-prolinuria. Acta Paediatr Scand 57:225–229
Roos A (1941) Polycystic kidney. Am J Dis Child 61:116–127
Rosenberg JC, Bernstein J, Rosenberg B (1975) Renal cystic disease associated with tuberous sclerosis complex: renal failure treated by cadaveric kidney transplantation. Clin Nephrol 4:109–112
Rosenfield AT, Lipson MH, Wolf B, Taylor KJW, Rosenfield NS, Hendler E (1980) Ultrasonography and nephrotomography in the presymptomatic diagnosis of dominantly inherited (adult-onset) polycystic kidney disease. Radiology 135:423–427
Ross DG, Travers H (1975) Infantile presentation of adult type polycystic kidney disease in a large kinderd. J Pediatr 87:760–763
Rutkai K, Czeizel A (1982) Obstetric features of mothers giving birth to infants with polycystic disease of the kidneys Arch Gynecol 231:235–240
Safouh M, Crocker JFS, Vernier RL (1970) Experimental cystic disease of the kidney. Sequential, functional, and morphologic studies. Lab Invest 23:392–400
Sahney S, Weiss L, Levin NW (1982) Genetic counseling in adult polycystic kidney disease. Am J Med Genet 11:461–468
Sahney S, Sandler MA, Weiss L, Levin NW, Hricak H, Madrazo BL (1983) Adult polycystic kidney disease: presymptomatic diagnosis for genetic counselling. Clin Nephrol 20:89–93
Sanfilippo FP, Vaughn WK, Peters TG, Bollinger RR, Spees EK (1983) Transplantation for polycystic kidney disease. Transplantation 36:54–59
Savera O (1946) Zur Erbpathologie der Zystenniere. Wien Klin Wochenschr 58:422–426
Schinzel A, Homberger C, Sigrist T, (1978) Case report: bilateral renal agenesis in 2 male sibs born to consanguineous parents. J Med Genet 15:314–316
Schläpfer H (1978) Polyzystische Krankheit von Nieren und Leber im Kindesalter. Thesis, University of Zürich
Schmidt A, Passarge E (1982) Roberts-Syndrom. poster session, 8. Tagung der Sektion Cytogenetik der Gesellschaft für Anthrologie und Humangenetik, Graz, 9.–12.6 1982
Schmidt W, v. Holst T, Schroeder T, Kubli F (1981) Pränatale Diagnose des Meckel-Gruber-Syndroms durch Ultraschall. Z Geburtschilfe Perinatol 185:67–71
Schmidt W, Schroeder TM, Buchinger G, Kubli F (1982) Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases. Clin Genet 22:105–127
Schumacher RE, Rocchini AP, Wilson GN (1983) Partial trisomy 2q/ Clin Genet 23:191–194
Scigalla P, Biewald W, Lennert T, Giffel J, Kaufmann HJ (1983) Postnatal follow-up of perinatally diagnosed renal malformations. Int J Pediatr Nephrol 4:67
Seller MJ (1981) Phenotypic variation in Meckel syndrome. Clin Genet 20:74–77
Sellers B, Richie JP (1978) Glomerulocystic kidney: proposed etiology and pathogenesis. J Urol 119:678–680
Senior B (1973) Familial renal-retinal dystrophy. Am J Dis Child 125:442–447
Shah KJ (1980) Renal lesion in Jeune's syndrome. Br J Radiol 53:432–436
Shapiro LJ, Kaback MM, Toomey KE, Sarti D, Luther P, Cousins L (1977) Prenatal diagnosis of the Meckel syndrome. Birth Defects XIII, 3D:267–272
Shokeir MHK (1978) Expression of “adult” polycystic renal disease in the fetus and newborn. Clin Genet 14:61–72
Simon HB, Thompson CJ (1955) Congenital polycystic disease; clinical and therapeutic study of 366 cases. JAMA 159:657–662
Simopoulos AP, Brennan GG, Alwan A, Fidis N (1967), Polycystic kidneys, internal hydrocephalus and polydactylism in newborn sibllings. Pediatrics 39:931–934
Simpson JL, Sabbagha RE, Elias S, Talbot C, Tamura RK (1982) Failure to detect polycystic kidneys in utero by second trimester ultrasonography Hum Genet. 60:295
Smith DW, Opitz JM, Inhorn SL (1965) A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in two siblings. J Pediatr 67:617–624
Smith L (1972) Multilocular renal cyst with intrapelvic herniation of a daughter locule. Br J Urol 44:309–310
Snobl O, Svore J, Dibelkova M (1970) Die Markschwammniere im Kindesalter. Fortschr Geb Roentgenstr Nuklearmed 113:644–650
Soler NG, Walsh CH, Malins JM (1976) Congenital malformations in infants of diabetic mothers. Q J Med 45:303–313
Sommerschild HC, Langmark F, Mauseth K (1973) Congenital hepatic fibrosis: report of two new cases and review of the literature. Surgery 73:53–58
Sotaniemi EA, Luoma PV, Järvensivu PM, Sotaniemi KA (1979) Impairment of drug metabolism in polycystic non-parasitic liver disease. Br J Clin Pharmacol 8: 331–335
Spence HM, Singleton R (1972) What is a sponge kidney disease and where does it fit in the spectrum of cystic disorders? J Urol 107:176–183
Spranger J, Grimm B, Weller M, Weißenbacher G, Herrmann J, Gilbert E, Krepler R (1974) Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. Z Kinderheilkd 116:73–94
Stambolis C, Alles JU, Jundt G (1981a) Zur Differentialdiagnose der unilateralen zystischen Niereneoplasien und-dysplasien. Pathologe 2:85–89
Stambolis C, Alles JU, Jundt G (1981b) Multilokuläre zystische Nierentumoren. Med Welt 32:662–667
Stapleton FB, Johnson D, Kaplan GW, Griwoldk W (1980) The cystic renal lesion in tuberous sclerosis. J Pediatr 97:574–579
Stapleton FB, Hilton S, Wilcox J, Leopold GR (1981) Transient nephromegaly simulating infantile polycystic disease of the kidneys. Pediatrics 67:554–559
Stickler GB, Kelalis PA (1975) Polycystic kidney disease recognition of the “adult form” (autosomal dominant) in infancy. Mayo Clin Proc 50:547–548
Stockhausen HB v. (1969) Beitrag zur Problematik der Dysplasia renofacialis. Z Kinderheilkd 105:303–323
Sutherland GR, Wiener S, Bartholomew AA, Fitzgerald MG (1972) XYY males in Victoria. Med J Aust 1:1249–1252
Sweetnam WP, Sykes CGW (1961) Congenital fibrosis of the liver as a familial defect. Lancet I:374–376
Tada S, Yamagishi J, Kobayashi H, Hata Y, Kobari T (1983) The incidence of simple renal cysts by computed tomography. Clin Radiol 34:437–439
Taxy JB, Filmer RB (1976) Glomerulocystic kidney. Arch Pathol Lab Med 100:186–188
Taylor AI (1968) Autosomal trisomy syndromes: a detailed study of 27 cases of Edward's syndrome and 27 cases of Pätau's syndrome. J Med Genet 5:227–251
Thomas JO, Cox AJ, DeEds F (1957) Kidney cysts produced by diphenylamine. Stanford Med Bull 15:90–93
Toussi T, Halal F, Lesage R, Delorme F, Bergeron A (1980) Brief clinical report: renal hypodysplasia and unilateral ovarian agenesis in the penta-X syndrome. Am J Med Genet 6:153–162
Traub YM, Rosenfeld JB (1980) Renal artery occlusion and malignant hypertension in polycystic kidney disease. J Urol 124:279–280
Uhari M, Herva R (1979) Polycystic kidney disease of perinatal type. Acta Paediatr Scand 68:443–444
Ulbright CE, Hodes ME, Ulbright TM (1984) New syndrome: renal dysplasia, mesomelia, and radiohumeral fusion. Am J Med Genet 17:667–668
Unite I, Maitem A, Bagnasco FM, Irwin GAL (1973) Congenital hepatic fibrosis associated with renal tubular ectasia. Radiology 109:565–570
Uson AC, Melicow MM (1963) Multilocular cysts of the kidney with intrapelvic herniation of a “daughter” cyst. Report of four cases. J Urol 89:341–348
Varma SC, Talwar KK, Kaushik SP, Sharma BK (1982) Association of von Recklinghausen's neurofibromatosis with adult polycystic disease of kidneys and liver. Postgrad Med J 58:117–118
Venn HJ, Weiss H, Zerres K, Hansmann M (1983) Sonographische Differentialdiagnose cystischer Veränderungen der fetalen Niere. In: Otto RC, Jann FX (eds) Ultraschalldiagnostik 82. Thieme, Stuttgart New York, pp 156–159
Verjaal M, Meyer AH, Becker-Bloemkolk MJ, Leschot NJ, der Weduwen JJ, Gras JGFM (1980) Letter to the editor: oligohydramnios hampering prenatal diagnosis of Meckel syndrome. Am J Med Genet 7:85–86
Virchow R (1855) Über congenitale Nierenwassersucht. Verh 5:447–462; cited Klein (1971)
Vlachos J, Tsakraklidis V (1967) Glomerular cysts. Am J Dis Child 114:379–384
Völpel MC (1977) Morphologie und Systematik der angeborenen Zystennieren im Kindesalter. Thesis, University of Lübeck
Waldherr R, Lennert T, Weber HP, Födisch HJ, Schärer K (1982) The nephronophthisis complex. Virchows Arch (Pathol Anat) 394:235–254
Walker SH, Firminger HI (1974) Familial renal dysplasia with sodium wasting and hypokalemic alkalosis. Am J Dis Child 127:882–887
Wapner RJ, Kurtz AB, Ross RD, Jackson LG (1981) Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome. Obstet Gynecol 57:388–392
Warkany J, Passarge E (1966) Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502–517
Weigert C (1886) Zwei Fälle von Mißbildungen eines Ureters und einer Samenblase mit Bemerkungen über einfache Nabelarterien. Virchows Arch (Pathol Anat) 104:10–20
Weiss H, Zerres K, Hansmann M (1981) Pränatale Diagnose zystischer Nierenveränderungen mit Hilfe der Ultraschalltechnik. Ultraschall 2:244–248
Weiss L, Reynolds WA, Saeed SM, Cabal L (1974) Congenital hepatic fibrosis and polycystic disease of kidneys with the roentgen appearance of medullary sponge kidney. Birth Defects X:22–28
Wenzl JE, Lagos JC, Albers DD (1970) Tuberous sclerosis presenting as polycystic kidneys and seizures in an infant. J Pediatr 77:673–676
Whitt JW, Wood BC, Sharma JN, Crouch TT (1978) Adult polycystic kidney disease and lattice corneal dystrophy. Arch Intern Med 138:1167–1168
Wigger HJ, Blanc WA (1977) The prune belly syndrome. Pathol Annu 12:17–39
Williams G, Mitcheson HD, Castro JE (1978) Transplantation for polycystic kidney disease. Urology 12:628–630
Winter JSD, Kohn G, Mellman WJ, Wagner S (1968) A familial syndrome of renal, genital and middle ear anomalies. J Pediatr 72:88–93
Wladimiroff JW (1975) Effect of frusemide on fetal urine production. Br J Obstet Gynaecol 82:221–224
Wolf B, Rosenfield AT, Taylor KJW, Rosenfield N, Gottlieb S, Hsia YE (1978) Presymptomatic diagnosis of adult polycystic kidney disease by ultrasonography. Clin Genet 14:1–7
Wolf EL, Berdon WE, Baker DH, Wigger HJ, Blanc WA (1977) Diagnosis of oligohydramnios-related pulmonary hypoplasia (Potter syndrome): value of portable voiding cystourethrography in newborns with respiratory distress. Radiology 125:769–773
Wrigley KA, Sherman RL, Ennis FA, Becker EL (1973) Progressive hereditary nephropathy. A variant of medullary cystic disease? Arch Intern Med 131:240–244
Würsching F (1957) Zur Erbpathologie und Phänogenese der Cystennieren. Thesis, University of Munich
Yang SS, Lin CS, Saadi AA, Nangia BS, Bernstein J (1980) Short ribpolydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. Am J Med Genet 7:205–213
Yunis E, Ramirez E, Uribe JG (1980) Full trisomy 7 and Potter syndrome. Hum Genet 54:13–18
Zarandi B, Gyarmati J (1974) Komplikationen der medullären Schwammniere. Radiol Diagn (Berl) 15:745–753
Zerres K (1981) Zystennieren: Klinische, pathologisch-anatomische und genetische Gesichtspunkte. Thesis, University of Bonn
Zerres K, Födisch HJ (1982) Kongenitale Zystennieren. Probleme der Klassifikation aus morphologischer und humangenetischer Sicht. Verh Dtsch Ges Pathol 66:285–289
Zerres K, Völpel MC (1983) Autosomal rezessiv erbliche Leberfibrosen—eine Entität? poster session, 18. Tagung der Gesellschaft für Anthropologie und Humangenetik, Münster, 5.-8.10.1983
Zerres K, Weicker H (1981) “Adulte” Form der polyzystischen Nierenerkrankung (Typ III nach Potter) bei Kindern. poster session, 17. Tagung der Gesellschaft für Anthropologie und Humangenetik, Göttingen, 23.-26.9.1981
Zerres K, Weiss H, Bulla M, Roth B (1982) Prenatal diagnosis of an early manifestation of autosomal dominant adult-type polycystic kidney disease. Lancet II:988
Roodhooft AM, Birnholz JC, Holmes LB (1984) Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310: 1341–1345
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zerres, K., Völpel, M.C. & Weiß, H. Cystic kidneys. Hum Genet 68, 104–135 (1984). https://doi.org/10.1007/BF00279301
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00279301