Fulltext

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation

Calinescu-Tuleasca, Ana-Maria ; Bottani, Armand ; Rougemont, Anne-Laure ; Birraux, Jacques ; Gubler, Marie-Claire ; Le Coultre, Claude ; Majno, Pietro ; Mentha, Gilles ; Girardin, Eric ; Belli, Dominique ; Wildhaber, Barbara

In: European Journal of Pediatrics, 2013, vol. 172, no. 7, p. 877-881

Add to personal list
    Title
    • Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
    Author
    • Calinescu-Tuleasca, Ana-Maria. Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland
    • Bottani, Armand. Service of Genetic Medicine, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland
    • Rougemont, Anne-Laure. Division of Clinical Pathology, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland
    • Birraux, Jacques. Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland
    • Gubler, Marie-Claire. INSERM, U983, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743, Paris Cedex 15, France
    • Le Coultre, Claude. Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland
    • Majno, Pietro. Service of Transplantation, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland
    • Mentha, Gilles. Service of Transplantation, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland
    • Girardin, Eric. Unit of Pediatric Nephrology, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland
    • Belli, Dominique. Service of Pediatrics, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland
    • Wildhaber, Barbara. Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland
    Document Type
    • Postprint
    Language
    • English
    Published in
    • European Journal of Pediatrics, 2013, vol. 172, no. 7, p. 877-881. Springer Berlin Heidelberg
    Other Version
    OAI-PMH Identifier
    • oai:doc.rero.ch:312901
    Summary
    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 1month, 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 4years, with excellent outcome. DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy. Conclusion: 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