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.

Etiology

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

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

 Goldston syndrome (renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst) (MIM.267010) (#1785635#)
 Meckel syndrome
 chondrodysplasias

• short rib polydactyly syndromes
  • Saldino-Noonan syndrome

• Elejalde types of chondrodysplasia
• asphyxiating thoracic dystrophies
• Ellis-van Creveld syndrome

 multiple acyl-CoA dehydrogenation deficiency (MADD) (glutaric aciduria type 2)
 juvenile nephronophthisis (NPHP)
 Bardet-Biedl syndrome (BBS)
 Jeune asphyxiating thoracic dystrophy (JATD) (Jeune syndrome)
 trisomy 9
 Cumming type campomelia

References

 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#

 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#

 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.