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

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          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.

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          Author and article information

          Journal
          Eur J Pediatr
          European journal of pediatrics
          Springer Science and Business Media LLC
          1432-1076
          0340-6199
          Jul 2013
          : 172
          : 7
          Affiliations
          [1 ] Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205 Geneva, Switzerland. Ana-maria.Calinescu@hcuge.ch
          Article
          10.1007/s00431-011-1552-0
          21845392
          80e507e3-62b5-4c93-a61d-1d42d93942de
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