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renal-hepatic-pancreatic dysplasia

Friday 18 March 2005

Heterogeneous malformative group associating anomalies of organogenesis of the liver, the pancreas and the kidneys.

The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth.

HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney, including the proliferation and dilatation of epithelial ducts in these tissues with abnormal deposition of extracellular matrix.

Synopsis

- hepatic dysplasia (hepatic dysplasia)

  • ductal plate malformation (DPM)
  • fetal hepatic fibrosis
  • hepatic bilairy dysgenesis
  • congenital bile duct dilatation (intrahepatic ductal dilatation)
  • Caroli disease

- pancreatic dysplasia

  • pancreatic cystofibrosis
  • pancreatic fibrosis
  • pancreatic cysts with a diminution of parenchymal tissue
  • pancreatic acinar agenesis
  • pancreatic ductal dysgenesis
  • fetal pancreatic fibrosis

- multicystic renal dysplasia (MRD)

Etiology

- ARPKD (autosomal recessive polycystic kidney disease) (MIM.263200) (Ex-Ivemark II renal-hepatic-pancreatic dysplasia)

  • Caution: renal lesions are not considered as a renal dysplasia but a polycystic kidney syndrome).

- hepatopancreaticorenal dysplasia with Dandy-Walker cyst (Goldston syndrome)(MIM.267010) (1785635)

- Fryns syndrome associationg renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and Mullerian duct anomalies.

- Meckel syndrome

- chondrodysplasias

  • short rib polydactyly syndromes
    • Saldino-Noonan syndrome
  • Elejalde chondrodysplasia
  • Ellis-van Creveld syndrome (2325105)
  • Saldino-Noonan syndrome
  • Cumming type campomelia (Cumming syndrome) (MIM.211890)
  • asphyxiating thoracic dystrophies

- multiple acyl-CoA dehydrogenation deficiency (MADD) (glutaric aciduria type 2)
- juvenile nephronophthisis (NPHP)
- Bardet-Biedl syndrome (BBS)
- trisomy 9
- Meckel syndrome
- Jeune
- Saldino-Noonan
- glutaric aciduria II

Associations

- Dandy-Walker cyst in Goldston syndrome (MIM.267010) (1785635)
- posterior fossa cyst in Fryns syndrome
- symmetrical limb deficiencies in Fryns syndrome
- cleft palate in Fryns syndrome
- cardiac in Fryns syndrome
- Mullerian duct anomalies in Fryns syndrome

See also

- pancreaticorenal dysplasia (PRD)

References

- Fernandez-Sein A, Correa-Rivas MS, Pratts K, Lugo-Vicente H. Renohepaticopancreatic dysplasia: diagnostic dilemma. P R Health Sci J. 2005 Mar;24(1):45-8. PMID: 15895877

- Johnson CA, Gissen P, Sergi C. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet. 2003 May;40(5):311-9. PMID: 12746391

- White SM, Hurst JA, Hamoda H, Chamberlain P, Bowker CM. Renal-hepatic-pancreatic dysplasia: a broad entity. Am J Med Genet. 2000 Dec 11;95(4):399-400. PMID: 11186898

- Abbi R, Daum F, Kahn E. Ontogeny of renal dysplasia in Ivemark syndrome: light and immunohistochemical characterization. Ann Clin Lab Sci. 1999 Jan-Mar;29(1):9-17. PMID: 10074963

- Bendon RW. Ivemark’s renal-hepatic-pancreatic dysplasia: analytic approach to a perinatal autopsy. Pediatr Dev Pathol. 1999 Jan-Feb;2(1):94-100. PMID: 9841713

- Torra R, Alos L, Ramos J, Estivill X. Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. J Med Genet. 1996 May;33(5):409-12. PMID: 8733053

- Blowey DL, Warady BA, Zwick DL, Ong C. Renal-pancreatic-hepatic dysplasia in siblings. Pediatr Nephrol. 1995 Feb;9(1):36-8. PMID: 7742219

- Hunter AG, Jimenez C, Tawagi FG. 1991. Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? Am J Med Genet 41: 201-207.

- Carles D, Serville F, Dubecq JP, Gonnet JM. Renal, pancreatic and hepatic dysplasia sequence. Eur J Pediatr. 1988 May;147(4):431-2. PMID: 3396599

- Bernstein J, Chandra M, Creswell J, Kahn E, Malouf NN, McVicar M, Weinberg AG, Wybel RE. Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet. 1987 Feb;26(2):391-403. PMID: 3812591

- Ivemark, B. I.; Oldfelt, V.; Zetterstrom, R. : Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome. Acta Paediat. Scand. 48: 1-11, 1959.