title: Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.
abstract: We report two brothers with renal dysplasia and congenital hepatic fibrosis. One patient died shortly after birth of lung hypoplasia. The second developed end-stage renal failure at 14 months. The hepatic fibrosis progressed to cirrhosis and hepatic failure. Pancreatic function was normal, but increased echogenicity was seen on ultrasound. At age 3 years and 9 months a successful combined liver-kidney transplantation was performed. The features of our patients are compatible with the "renal-hepatic-pancreatic dysplasia" syndrome.
  
  
  CONCLUSIONS
  Renal-hepatic-pancreatic dysplasia is an autosomal recessive disorder with variable expression. Combined liver-kidney transplantation offers a new therapeutic option.
authors.affiliation: Universitätskinderklinik, Zürich, Switzerland.
authors.forename: T J
authors.initials: TJ
authors.lastname: Neuhaus
authors.forename: F
authors.initials: F
authors.lastname: Sennhauser
authors.forename: J
authors.initials: J
authors.lastname: Briner
authors.forename: B
authors.initials: B
authors.lastname: Van Damme
authors.forename: E P
authors.initials: EP
authors.lastname: Leumann
mesh_terms: D000015:Abnormalities, Multiple; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D007676:Kidney Failure, Chronic / Q000209:etiology; D016030:Kidney Transplantation; D008103:Liver Cirrhosis / Q000150:complications / Q000151:congenital* / Q000473:pathology / Q000601:surgery; D016031:Liver Transplantation; D008297:Male; D010179:Pancreas / Q000002:abnormalities*; D017044:Polycystic Kidney, Autosomal Recessive; D013577:Syndrome