Pediatric Nephrology

, Volume 7, Issue 4, pp 464–470 | Cite as

Glomerulocystic kidney disease — nosological considerations

  • Jay Bernstein
Invited Review


Glomerulocystic kidneys can be categorized into three major groups: (1) glomerulocystic kidney disease, comprising nonsyndromal heritable and sporadic forms of severely cystic kidneys in children and adults, (2) glomerulocystic kidneys in heritable malformation syndromes, and (3) glomerular cysts in dysplastic kidneys. The first category includes diffusely glomerulocystic kidneys in newborns and young children, many of whom have family histories positive for classical polycystic kidney disease. No differences between familial and sporadic cases have been identified, apart from the family histories. The sporadic cases are conceivably new mutations of the same disease. The first category also includes sporadic and familial disease in older children and adults. The inheritance in adult familial disease, as in childhood familial disease, has been dominant. An apparently distinct entity is hypoplastic glomerulocystic kidney disease, a dominant reported in only a few families. These kidneys, apart from being glomerulocystic, are small, and imaging studies show abnormal pyelocaliceal anatomy. The second category includes glomerulocystic kidneys as major components of heritable syndromes such as tuberous sclerosis, orofaciodigital syndrome, brachymesomelia-renal syndrome, trisomy 13, and the short rib-polydactyly syndromes. The category also includes glomerular cysts in several syndromes, namely Jeune syndrome and familial juvenile nephronophthisis, better known for chronic progressive tubulointerstitial disease. Glomerular cysts occur as a minor component, i.e., scattered cortical cysts, in several other syndromes, among them Zellweger's, in which the cysts are typically present and are usually inconsequential, only occasionally serious enough to affect renal function. In all of these syndromes, the cysts are inconsistently expressed. The third category includes a number of dysplastic kidneys, some of which, as in Meckel syndrome and glutaric aciduria type 2, are also syndromal. The glomerular cysts are minor in comparison with the dysplastic components of the abnormality, although they may be present in sufficient numbers to create confusion with other glomerulocystic conditions.

Key words

Glomerulocystic kidney disease Dominant polycystic kidney disease Malformation syndromes Tuberous sclerosis 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Roos A (1941) Polycystic kidney: report of a case studied by reconstruction. Am J Dis Child 61:116–127Google Scholar
  2. 2.
    Bialestock D (1960) Anaemia of renal origin, studied by microdissection of the kidney. Australas Ann Med 9:44–52Google Scholar
  3. 3.
    Baxter TJ (1965) Cysts arising in the renal corpuscle. Arch Dis Child 40:455–463Google Scholar
  4. 4.
    Vlachos J, Tsakraklidis V (1967) Glomerular cysts: an unusual variety of “polycystic kidneys”: report of two cases. Am J Dis Child 114: 379–384Google Scholar
  5. 5.
    Bartman J, Barraclough G (1965) Cystic dysplasia of the kidney studied by micro-dissection in a case of 13–15 trisomy. J Pathol Bacteriol 89:233–238Google Scholar
  6. 6.
    Smith DW, Opitz JM, Inhorn SL (1965) A syndrome of multiple developmental defects including polycystic kidneys and intrahepatic biliary dysgenesis in 2 siblings. J Pediatr 67:617–624Google Scholar
  7. 7.
    Passarge E, McAdams AJ (1967) Cerebro-hepato-renal syndrome: a newly recognized hereditary disorder of multiple congenital defects including sudanophilic leukodystrophy, cirrhosis of the liver, and polycystic kidneys. J Pediatr 71:691–702Google Scholar
  8. 8.
    Taxy JB, Filmer RB (1976) Glomerulocystic kidney: report of a case. Arch Pathol Lab Med 100:186–188Google Scholar
  9. 9.
    Joshi VV, Kasznica J (1984) Clinicopathologic spectrum of glomerulocystic kidneys: report of two cases and a brief review of literature. Pediatr Nephrol 2:171–186Google Scholar
  10. 10.
    Bernstein J, Landing BH (1989) Glomerulocystic kidney diseases. In: Bartsocas CS (ed) Genetics of kidney disorders. Liss, New York, pp 27–43Google Scholar
  11. 11.
    Verani R, Walker P, Silva FG (1989) Renal cystic disease of infancy: results of histochemical studies: a report of the Southwest Pediatric Nephrology study group. Pediatr Nephrol 3:37–42Google Scholar
  12. 12.
    Mehrizi A, Rosenstein BJ, Pusch A, Askin JA, Taussig HB (1964) Myocardial infarction and endocardial fibroelastosis in children with polycystic kidneys. Bull Johns Hopkins Hosp 115:92–98Google Scholar
  13. 13.
    Ross DG, Travers H (1975) Infantile presentation of adult-type polycystic kidney disease in a large kindred. J Pediatr 87:760–763Google Scholar
  14. 14.
    Fellows RA, Leonidas JC, Beatty EC Jr (1976) Radiologic features of “adult type” polycystic kidney disease in the neonate. Pediatr Radiol 4:87–92Google Scholar
  15. 15.
    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 70:971–975Google Scholar
  16. 16.
    Edwards OP, Baldinger S (1989) Prenatal onset of autosomal dominant polycystic kidney disease. Urology 34:265–270Google Scholar
  17. 17.
    Chevalier RL, Garland TA, Buschi AJ (1981) The neonate with adult-type autosomal dominant polycystic kidney disease. Int J Pediatr Nephrol 2:73–77Google Scholar
  18. 18.
    Fryns JP, Van Den Berghe H (1979) “Adult” form of polycystic kidney disease in neonates. Clin Genet 15:205–206Google Scholar
  19. 19.
    Reznik VM, Griswold WT, Mendoza SA (1982) Glomerulocystic disease—a case report with 10 year follow-up. Int J Pediatr Nephrol 3:321–323Google Scholar
  20. 20.
    Reeders ST, Zerres K, Gal A, Hogenkamp T, Propping P, Schmidt W, Waldherr R, Dolata MM, Davies KE, Weatherall DJ (1986) Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet II:6–8Google Scholar
  21. 21.
    Novelli G, Frontali M, Baldini D, Bosman C, Dallapiccola B, Pachi A, Torcia F (1989) Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem. Prenat Diagn 9:759–767Google Scholar
  22. 22.
    Gal A, Wirth B, Kääriäinen H, Lucotte G, Landais P, Gillessen-Kaesbach G, Müller-Wiefel DE, Zerres K (1989) Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity. Clin Genet 35:13–19Google Scholar
  23. 23.
    Anton PA, Abramowsky CR (1982) Adult polycystic renal disease presenting in infancy: a report emphasizing the bilateral involvement. J Urol 128:1290–1291Google Scholar
  24. 24.
    Farrell TP, Boal DK, Wood BP, Dagen JE, Rabinwitz R (1984) Unilateral abdominal mass: an unusual presentation of autosomal dominant polycystic kidney disease in children. Pediatr Radiol 14: 349–352Google Scholar
  25. 25.
    Porch P, Noe HN, Stapleton FB (1986) Unilateral presentation of adult-type polycystic kidney disease in children. J Urol 135: 744–746Google Scholar
  26. 26.
    Strand WR, Rushton HG, Markle BM, Kapur S (1989) Autosomal dominant polycystic kidney disease in infants: asymmetric disease mimicking a unilateral renal mass. J Urol 141:1151–1153Google Scholar
  27. 27.
    Rapola J, Kääriäinen H (1988) Morphological diagnosis of recessive and dominant polycystic kidney disease in infancy and childhood. APMIS 96:68–76Google Scholar
  28. 28.
    Fryns JP, Vandenberghe K, Moerman F (1986) Mid-trimester ultrasonographic diagnosis of early manifesting “adult” form of polycystic kidney disease. Hum Genet 74:461Google Scholar
  29. 29.
    McHugo JM, Shafi MI, Rowlands D, Weaver JB (1988) Pre-natal diagnosis of adult polycystic kidney disease. Br J Radiol 61: 1072–1074Google Scholar
  30. 30.
    Uemasu J, Maruyama S, Watanabe H, Kawasaki H (1991) Glomerulocystic kidney in a patient with nephrotic syndrome. Nephron 57: 491–492Google Scholar
  31. 31.
    Katoh K, Mizuno K, Tanaka K, Haga H, Takahashi M, Shigetorni S, Fukuchi S (1991) A case of glomerulocystic kidney disease associated with hypothyroidism in man. J Med 22:45–54Google Scholar
  32. 32.
    Bhaskar KVS, Joshi K, Banerjee CK (1990) Hepatoblastoma with glomerulocystic disease—a mere coincidence or an association? Nephron 54:273–274Google Scholar
  33. 33.
    Dosa S, Thompson AM, Abraham A (1984) Glomerulocystic kidney disease: report of an adult case. Am J Clin Pathol 82:619–621Google Scholar
  34. 34.
    Oh Y, Onoyama K, Kobayashi K, Nanishi F, Mitsuoka W, Ohchi N, Tsuruda H, Fujishima M (1986) Glomerulocystic kidneys: report of an adult case. Nephron 43:299–302Google Scholar
  35. 35.
    Egashira K, Nakata H, Hashimoto O, Kaizu K (1991) MR imaging of adult glomerulocystic kidney disease: a case report. Acta Radiol 32: 251–253Google Scholar
  36. 36.
    Romero R, Bonal J, Campo E, Pelegri A, Palacin A (1993) Glomerulocystic kidney disease: a single entity? Nephron 63: 100–103Google Scholar
  37. 37.
    McAlister WH, Siegel MJ, Shackelford G, Askin F, Kissane JM (1979) Glomerulocystic kidney. Am J Roentgenol 133:536–538Google Scholar
  38. 38.
    Cachero S, Montgomery P, Seidel FG, Springate JE, Feld L, Kuhn JP, Fisher J (1990) Glomerulocystic kidney disease: case report. Pediatr Radiol 20:491–493Google Scholar
  39. 39.
    Melnick SC, Brewer DB, Oldham JS (1984) Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome. J Clin Pathol 37:494–499Google Scholar
  40. 40.
    Carson RW, Bedi D, Cavallo T, DuBose TD (1987) Familial adult glomerulocystic kidney disease. Am J Kidney Dis 9:154–165Google Scholar
  41. 41.
    Rizzoni G, Loirat C, Levy M, Milanesi C, Zachello G, Mathieu H (1982) Familial hypoplastic glomerulocystic kidney. A new entity? Clin Nephrol 18:263–268Google Scholar
  42. 42.
    Kaplan BS, Gordon I, Pincott J, Barratt TM (1989) Familial hypoplastic glomerulocystic kidney disease: a definite entity with dominant inheritance. Am J Med Genet 34:569–573Google Scholar
  43. 43.
    Bernstein J, Robbins TO, Kissane JM (1986) The renal lesions of tuberous sclerosis. Semin Diagn Pathol 3:97–105Google Scholar
  44. 44.
    Bernstein J (1993) Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol 7:490–495Google Scholar
  45. 45.
    Mitnick JS, Bosniak MA, Hilton S, Raghavendra BN, Subramanyam BR, Genteser NB (1983) Cystic renal disease in tuberous sclerosis. Radiology 147:85–87Google Scholar
  46. 46.
    Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, Dumars K, Roach ES, Steingold S, Wall S, Blanton SH, Flodman P, Kwiatkowski DJ, Jewell A, Weber JL, Roses AD, Pericak-Vance MA (1992) Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nature Genet 2:37–41Google Scholar
  47. 47.
    Miller ID, Gray ES, Lloyd DL (1989) Unilateral cystic disease of the neonatal kidney: a rare presentation of tuberous sclerosis. Histopathology 14:529–532Google Scholar
  48. 48.
    Rolfes DB, Towbin R, Bove KE (1985) Vascular dysplasia in a child with tuberous sclerosis. Pediatr Pathol 3:359–373Google Scholar
  49. 49.
    Stapleton FB, Bernstein J, Koh G, Roy S III, Wilroy RS (1982) Cystic kidneys in a patient with oral-facial-digital syndrome type I. Am J Kidney Dis 1:288–293Google Scholar
  50. 50.
    Curry NS, Milutinovic J, Grossnickle M, Munden M (1992) Renal cystic disease associated with orofaciodigital syndrome. Urol Radiol 13:153–157Google Scholar
  51. 51.
    Kennedy SM, Hashida Y, Malatack JJ (1991) Polycystic kidneys, pancreatic cysts, and cystadenomatous bile ducts in the oral-facial-digital syndrome type I. Arch Pathol Lab Med 115:519–523Google Scholar
  52. 52.
    Langer LO Jr, Nishino R, Yamaguchi A, Ito Y, Ueke T, Togari H, Kato T, Optiz JM, Gilbert EF (1983) Brachymesomelia-renal syndrome. Am J Med Genet 15:57–65Google Scholar
  53. 53.
    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 116:73–94Google Scholar
  54. 54.
    Motegi T, Kusunoki M, Nishi T, Hamada T, Sato N, Imamura T, Mohri N (1979) Short rib-polydactyly syndrome, Majewski type, in two male siblings. Hum Genet 49:269–275Google Scholar
  55. 55.
    McCormac RM, Flannery DB, Nakoneczna I, Kodroff MB (1984) Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. Pediatr Pathol 2:457–467Google Scholar
  56. 56.
    Warkany J, Passarge E, Smith LB (1966) Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502–517Google Scholar
  57. 57.
    Shokeir MHK, Houston CS, Awen CF (1971) Asphyxiating thoracic chondrodystrophy: association with renal disease and evidence for possible heterozygous expression. J Med Genet 8:107–112Google Scholar
  58. 58.
    Oberklaid F, Danks DM, Mayne V, Campbell P (1977) Asphyxiating thoracic dysplasia: clinical, radiological, and pathological information on 10 patients. Arch Dis Child 52:758–765Google Scholar
  59. 59.
    Kobayashi Y, Hiki Y, Shigematsu H, Tateno S, Mori K (1985) Renal retinal dysplasia with diffuse glomerular cysts. Nephron 39: 201–205Google Scholar
  60. 60.
    Mongeau JG, Worthen HG (1967) Nephronophthisis and medullary cystic disease. Am J Med 43:345–355Google Scholar
  61. 61.
    Makker SP, Grupe WE, Perrin E, Heymann W (1973) Identical progression of juvenile hereditary nephronophthisis in monozygotic twins. J Pediatr 82:773–779Google Scholar
  62. 62.
    Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis: a family study. Q J Med 42:221–233Google Scholar
  63. 63.
    Harris HW Jr, Carpenter TO, Shanley P, Rosen S, Levey RH, Harmon WE (1986) Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities. Am J Med 81: 169–176Google Scholar
  64. 64.
    Gagnadoux MF, Bacri JL, Broyer M, Habib R (1989) Infantile chronic tubulo-interstitial nephritis with corical microcysts: variant of nephronophthisis or new disease entity? Pediatr Nephrol 3:50–55Google Scholar
  65. 65.
    Bernstein J, Brough AJ, McAdams AJ (1974) The renal lesion in syndromes of multiple congenital malformations: cerebrohepatorenal syndrome; Jeune asphyxiating thoracic dystrophy; tuberous sclerosis; Meckel syndrome. Birth Defects 10:35–43Google Scholar
  66. 66.
    Leclerc JP, Canet J, Lancret P, Chelloul N, Le Bont H, Pesnel G, Fabre A, Alajouanine P (1971) Polykystose hepato-pancreaic-epididymo-renale et polydystrophie thoracique neo-natales: etude anatomo-clinique d'une observation. Arch Fr Pediatr 28:425–434Google Scholar
  67. 67.
    Gilchrist KW, Gilbert EF, Goldfarb S, Goll U, Spranger JW, Optiz JM (1976) Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Eur J Pediatr 121:99–118Google Scholar
  68. 68.
    Loh JP, Haller JO, Kassner EG, Aloni A, Glassberg K (1977) Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis. Pediatr Radiol 6:27–31Google Scholar
  69. 69.
    Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia type II: comparison of pathologic features in two infants. Arch Pathol Lab Med 112:1133–1139Google Scholar
  70. 70.
    Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE (1987) Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet 26: 391–403Google Scholar

Copyright information

© IPNA 1993

Authors and Affiliations

  • Jay Bernstein
    • 1
  1. 1.Research InstituteWilliam Beaumont HospitalRoyal OakUSA

Personalised recommendations