Skip to main content
SpringerLink
Log in

Glomerulocystic kidney disease — nosological considerations

  • Invited Review
  • Published:
Pediatric Nephrology Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Roos A (1941) Polycystic kidney: report of a case studied by reconstruction. Am J Dis Child 61:116–127

    Google Scholar 

  2. Bialestock D (1960) Anaemia of renal origin, studied by microdissection of the kidney. Australas Ann Med 9:44–52

    Google Scholar 

  3. Baxter TJ (1965) Cysts arising in the renal corpuscle. Arch Dis Child 40:455–463

    Google Scholar 

  4. Vlachos J, Tsakraklidis V (1967) Glomerular cysts: an unusual variety of “polycystic kidneys”: report of two cases. Am J Dis Child 114: 379–384

    Google Scholar 

  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 89:233–238

    Google Scholar 

  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 67:617–624

    Google Scholar 

  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 71:691–702

    Google Scholar 

  8. Taxy JB, Filmer RB (1976) Glomerulocystic kidney: report of a case. Arch Pathol Lab Med 100:186–188

    Google Scholar 

  9. Joshi VV, Kasznica J (1984) Clinicopathologic spectrum of glomerulocystic kidneys: report of two cases and a brief review of literature. Pediatr Nephrol 2:171–186

    Google Scholar 

  10. Bernstein J, Landing BH (1989) Glomerulocystic kidney diseases. In: Bartsocas CS (ed) Genetics of kidney disorders. Liss, New York, pp 27–43

    Google Scholar 

  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 3:37–42

    Google Scholar 

  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 115:92–98

    Google Scholar 

  13. Ross DG, Travers H (1975) Infantile presentation of adult-type polycystic kidney disease in a large kindred. J Pediatr 87:760–763

    Google Scholar 

  14. Fellows RA, Leonidas JC, Beatty EC Jr (1976) Radiologic features of “adult type” polycystic kidney disease in the neonate. Pediatr Radiol 4:87–92

    Google Scholar 

  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 70:971–975

    Google Scholar 

  16. Edwards OP, Baldinger S (1989) Prenatal onset of autosomal dominant polycystic kidney disease. Urology 34:265–270

    Google Scholar 

  17. Chevalier RL, Garland TA, Buschi AJ (1981) The neonate with adult-type autosomal dominant polycystic kidney disease. Int J Pediatr Nephrol 2:73–77

    Google Scholar 

  18. Fryns JP, Van Den Berghe H (1979) “Adult” form of polycystic kidney disease in neonates. Clin Genet 15:205–206

    Google Scholar 

  19. Reznik VM, Griswold WT, Mendoza SA (1982) Glomerulocystic disease—a case report with 10 year follow-up. Int J Pediatr Nephrol 3:321–323

    Google Scholar 

  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:6–8

    Google Scholar 

  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 9:759–767

    Google Scholar 

  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 35:13–19

    Google Scholar 

  23. Anton PA, Abramowsky CR (1982) Adult polycystic renal disease presenting in infancy: a report emphasizing the bilateral involvement. J Urol 128:1290–1291

    Google Scholar 

  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: 349–352

    Google Scholar 

  25. Porch P, Noe HN, Stapleton FB (1986) Unilateral presentation of adult-type polycystic kidney disease in children. J Urol 135: 744–746

    Google Scholar 

  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 141:1151–1153

    Google Scholar 

  27. Rapola J, Kääriäinen H (1988) Morphological diagnosis of recessive and dominant polycystic kidney disease in infancy and childhood. APMIS 96:68–76

    Google Scholar 

  28. Fryns JP, Vandenberghe K, Moerman F (1986) Mid-trimester ultrasonographic diagnosis of early manifesting “adult” form of polycystic kidney disease. Hum Genet 74:461

    Google Scholar 

  29. McHugo JM, Shafi MI, Rowlands D, Weaver JB (1988) Pre-natal diagnosis of adult polycystic kidney disease. Br J Radiol 61: 1072–1074

    Google Scholar 

  30. Uemasu J, Maruyama S, Watanabe H, Kawasaki H (1991) Glomerulocystic kidney in a patient with nephrotic syndrome. Nephron 57: 491–492

    Google Scholar 

  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 22:45–54

    Google Scholar 

  32. Bhaskar KVS, Joshi K, Banerjee CK (1990) Hepatoblastoma with glomerulocystic disease—a mere coincidence or an association? Nephron 54:273–274

    Google Scholar 

  33. Dosa S, Thompson AM, Abraham A (1984) Glomerulocystic kidney disease: report of an adult case. Am J Clin Pathol 82:619–621

    Google Scholar 

  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 43:299–302

    Google Scholar 

  35. Egashira K, Nakata H, Hashimoto O, Kaizu K (1991) MR imaging of adult glomerulocystic kidney disease: a case report. Acta Radiol 32: 251–253

    Google Scholar 

  36. Romero R, Bonal J, Campo E, Pelegri A, Palacin A (1993) Glomerulocystic kidney disease: a single entity? Nephron 63: 100–103

    Google Scholar 

  37. McAlister WH, Siegel MJ, Shackelford G, Askin F, Kissane JM (1979) Glomerulocystic kidney. Am J Roentgenol 133:536–538

    Google Scholar 

  38. Cachero S, Montgomery P, Seidel FG, Springate JE, Feld L, Kuhn JP, Fisher J (1990) Glomerulocystic kidney disease: case report. Pediatr Radiol 20:491–493

    Google Scholar 

  39. Melnick SC, Brewer DB, Oldham JS (1984) Cortical microcystic disease of the kidney with dominant inheritance: a previously undescribed syndrome. J Clin Pathol 37:494–499

    Google Scholar 

  40. Carson RW, Bedi D, Cavallo T, DuBose TD (1987) Familial adult glomerulocystic kidney disease. Am J Kidney Dis 9:154–165

    Google Scholar 

  41. Rizzoni G, Loirat C, Levy M, Milanesi C, Zachello G, Mathieu H (1982) Familial hypoplastic glomerulocystic kidney. A new entity? Clin Nephrol 18:263–268

    Google Scholar 

  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 34:569–573

    Google Scholar 

  43. Bernstein J, Robbins TO, Kissane JM (1986) The renal lesions of tuberous sclerosis. Semin Diagn Pathol 3:97–105

    Google Scholar 

  44. Bernstein J (1993) Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol 7:490–495

    Google Scholar 

  45. Mitnick JS, Bosniak MA, Hilton S, Raghavendra BN, Subramanyam BR, Genteser NB (1983) Cystic renal disease in tuberous sclerosis. Radiology 147:85–87

    Google Scholar 

  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 2:37–41

    Google Scholar 

  47. Miller ID, Gray ES, Lloyd DL (1989) Unilateral cystic disease of the neonatal kidney: a rare presentation of tuberous sclerosis. Histopathology 14:529–532

    Google Scholar 

  48. Rolfes DB, Towbin R, Bove KE (1985) Vascular dysplasia in a child with tuberous sclerosis. Pediatr Pathol 3:359–373

    Google Scholar 

  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 1:288–293

    Google Scholar 

  50. Curry NS, Milutinovic J, Grossnickle M, Munden M (1992) Renal cystic disease associated with orofaciodigital syndrome. Urol Radiol 13:153–157

    Google Scholar 

  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 115:519–523

    Google Scholar 

  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 15:57–65

    Google Scholar 

  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 116:73–94

    Google Scholar 

  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 49:269–275

    Google Scholar 

  55. McCormac RM, Flannery DB, Nakoneczna I, Kodroff MB (1984) Short rib-polydactyly syndrome type II (Majewski syndrome): a case report. Pediatr Pathol 2:457–467

    Google Scholar 

  56. Warkany J, Passarge E, Smith LB (1966) Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502–517

    Google Scholar 

  57. Shokeir MHK, Houston CS, Awen CF (1971) Asphyxiating thoracic chondrodystrophy: association with renal disease and evidence for possible heterozygous expression. J Med Genet 8:107–112

    Google Scholar 

  58. Oberklaid F, Danks DM, Mayne V, Campbell P (1977) Asphyxiating thoracic dysplasia: clinical, radiological, and pathological information on 10 patients. Arch Dis Child 52:758–765

    Google Scholar 

  59. Kobayashi Y, Hiki Y, Shigematsu H, Tateno S, Mori K (1985) Renal retinal dysplasia with diffuse glomerular cysts. Nephron 39: 201–205

    Google Scholar 

  60. Mongeau JG, Worthen HG (1967) Nephronophthisis and medullary cystic disease. Am J Med 43:345–355

    Google Scholar 

  61. Makker SP, Grupe WE, Perrin E, Heymann W (1973) Identical progression of juvenile hereditary nephronophthisis in monozygotic twins. J Pediatr 82:773–779

    Google Scholar 

  62. Boichis H, Passwell J, David R, Miller H (1973) Congenital hepatic fibrosis and nephronophthisis: a family study. Q J Med 42:221–233

    Google Scholar 

  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: 169–176

    Google Scholar 

  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 3:50–55

    Google Scholar 

  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 10:35–43

    Google Scholar 

  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 28:425–434

    Google Scholar 

  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 121:99–118

    Google Scholar 

  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 6:27–31

    Google Scholar 

  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 112:1133–1139

    Google Scholar 

  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: 391–403

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Research Institute, William Beaumont Hospital, 48073, Royal Oak, Michigan, USA

    Jay Bernstein

Authors
  1. Jay Bernstein
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Bernstein, J. Glomerulocystic kidney disease — nosological considerations. Pediatr Nephrol 7, 464–470 (1993). https://doi.org/10.1007/BF00857576

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00857576

Key words

Search

Navigation