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Title

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

Authors
Gubler, Marie-Claire
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Published in European Journal of Pediatrics. 2013, vol. 172, no. 7, p. 877-81
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. 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.
Identifiers
PMID: 21845392
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Structures
Research groups Métastases du foie (657)
Hépatologie chirurgicale (327)
Plateforme d'oncologie et d'hématologie pédiatrique (907)
Recherche clinique en chirurgie pédiatrique (886)
Pathogénèse du syndrome néphrotique idiopathique de l'enfant (180)
Gastroentérologie et transplantation (pédiatrie) (181)
Citation
(ISO format)
CALINESCU-TULEASCA, Ana Maria et al. Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. In: European Journal of Pediatrics, 2013, vol. 172, n° 7, p. 877-81. https://archive-ouverte.unige.ch/unige:29360

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Deposited on : 2013-08-19

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