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

Détails

ID Serval
serval:BIB_774C3C127D23
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
Périodique
European Journal of Pediatrics
Auteur(s)
Calinescu-Tuleasca A.M., Bottani A., Rougemont A.L., Birraux J., Gubler M.C., Le Coultre C., Majno P., Mentha G., Girardin E., Belli D., Wildhaber B.E.
ISSN
1432-1076 (Electronic)
ISSN-L
0340-6199
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
172
Numéro
7
Pages
877-881
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
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.
Mots-clé
Abnormalities, Multiple/genetics, Abnormalities, Multiple/surgery, Caroli Disease/genetics, Caroli Disease/pathology, Child, Preschool, Craniofacial Abnormalities/genetics, Female, Humans, Kidney Transplantation, Kinesin/genetics, Liver Transplantation, Mutation, Polycystic Kidney, Autosomal Recessive/genetics, Polycystic Kidney, Autosomal Recessive/pathology, Polydactyly/genetics, Situs Inversus/genetics
Pubmed
Web of science
Création de la notice
21/02/2015 10:36
Dernière modification de la notice
20/08/2019 15:34
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