renal-hepatic-pancreatic dysplasia

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)

• bilateral non-obstructive multicystic renal dysplasia (BNOMRD)

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
  • Jeune syndrome (Jeune asphyxiating thoracic dystrophy) (JATD) (2325105)

 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.