title: Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
abstract: We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child. She presented with end-stage renal disease at the age of 1 month, followed by a rapidly progressing hepatic fibrosis and dilatation of the intrahepatic bile ducts, leading to secondary biliary cirrhosis and portal hypertension. Combined liver-kidney transplantation was performed at the age of 4 years, with excellent outcome. DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy.
  
  
  CONCLUSIONS
  This rare association required an exceptional therapeutic approach: combined simultaneous orthotopic liver and kidney transplantation in a situs inversus recipient. The long-term follow-up was excellent with a very good evolution of the renal and hepatic grafts and normalization of growth and weight. This malformation complex has an autosomal recessive inheritance with a 25% recurrence risk in each pregnancy.
authors.affiliation: Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205 Geneva, Switzerland. Ana-maria.Calinescu@hcuge.ch
authors.forename: Ana-Maria
authors.initials: AM
authors.lastname: Calinescu-Tuleasca
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Rougemont
authors.forename: Jacques
authors.initials: J
authors.lastname: Birraux
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Gubler
authors.forename: Claude
authors.initials: C
authors.lastname: Le Coultre
authors.forename: Pietro
authors.initials: P
authors.lastname: Majno
authors.forename: Gilles
authors.initials: G
authors.lastname: Mentha
authors.forename: Eric
authors.initials: E
authors.lastname: Girardin
authors.forename: Dominique
authors.initials: D
authors.lastname: Belli
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Wildhaber
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000601:surgery; D016767:Caroli Disease / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D016030:Kidney Transplantation; D016547:Kinesins / Q000235:genetics*; D016031:Liver Transplantation; D009154:Mutation; D017044:Polycystic Kidney, Autosomal Recessive / Q000235:genetics* / Q000473:pathology; D017689:Polydactyly / Q000235:genetics*; D012857:Situs Inversus / Q000235:genetics*
chemical_list: C528697:nephrocystin-3, human; D016547:Kinesins