Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation
| Autor: | Pietro Majno, Jacques Birraux, Armand Bottani, Anne-Laure Rougemont, Dominique Charles Belli, Claude Pierrette Le Coultre, Ana-Maria Calinescu-Tuleasca, Gilles Mentha, Barbara E. Wildhaber, Eric Girardin, Marie-Claire Gubler |
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| Rok vydání: | 2011 |
| Předmět: |
Pathology
medicine.medical_specialty Caroli disease Kinesins Intrahepatic bile ducts ddc:616.07 Craniofacial Abnormalities Humans Medicine Abnormalities Multiple ddc:576.5 Polycystic Kidney Autosomal Recessive ddc:618 ddc:617 business.industry Situs Inversus medicine.disease Kidney Transplantation Caroli Disease Liver Transplantation Transplantation Polydactyly Ciliopathy Situs inversus Child Preschool Mutation Pediatrics Perinatology and Child Health Congenital hepatic fibrosis Portal hypertension Female Hepatic fibrosis business |
| Zdroj: | European Journal of Pediatrics, Vol. 172, No 7 (2013) pp. 877-81 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s00431-011-1552-0 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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