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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. 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.

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Acknowledgments

We thank Corinne Antignac who performed the molecular investigations. Further thanks go to the patient's parents for the consent to publish the data.

Competing interests

The authors declare that they do not have any competing interests.

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Authors and Affiliations

  1. Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland

    Ana-Maria Calinescu-Tuleasca, Jacques Birraux, Claude Le Coultre & Barbara E. Wildhaber

  2. Service of Genetic Medicine, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland

    Armand Bottani

  3. Division of Clinical Pathology, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland

    Anne-Laure Rougemont

  4. INSERM, U983, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743, Paris Cedex 15, France

    Marie-Claire Gubler

  5. Service of Transplantation, University Hospitals of Geneva, 1 Michel Servet, 1211, Geneva, Switzerland

    Pietro Majno & Gilles Mentha

  6. Unit of Pediatric Nephrology, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland

    Eric Girardin

  7. Service of Pediatrics, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205, Geneva, Switzerland

    Dominique Belli

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  1. Ana-Maria Calinescu-Tuleasca
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Correspondence to Barbara E. Wildhaber.

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Calinescu-Tuleasca, AM., Bottani, A., Rougemont, AL. et al. Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. Eur J Pediatr 172, 877–881 (2013). https://doi.org/10.1007/s00431-011-1552-0

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  • DOI: https://doi.org/10.1007/s00431-011-1552-0

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