Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

Yeliz Cagan Appak; Masallah Baran; Burcu Ozturk Hismi; Berk Ozyilmaz; Kader Vardi; Ozge Ozer Kaya; Betul Aksoy; Belde Kasap Demir

doi:10.1055/s-0039-1696974

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2020; 09(02): 101-103
DOI: 10.1055/s-0039-1696974

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Renal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype

Authors

Yeliz Cagan Appak

¹Department of Pediatric Gastroenterology, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Masallah Baran

²Department of Pediatric Gastroenterology, Izmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Burcu Ozturk Hismi

³Department of Pediatric Metabolism and Nutrition, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Berk Ozyilmaz

⁴Genetic Diagnosis Center, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Kader Vardi

⁵Department of Pediatrics, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Ozge Ozer Kaya

⁴Genetic Diagnosis Center, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Betul Aksoy

¹Department of Pediatric Gastroenterology, SBU Tepecik Training and Research Hospital, Izmir, Turkey
Belde Kasap Demir

⁶Department of Pediatric Nephrology, Izmir Katip Celebi University, SBU Tepecik Training and Research Hospital, Izmir, Turkey

Abstract

Renal–hepatic–pancreatic dysplasia-1 (RHPD1) is an ultra-rare genetic disorder with a high mortality. It is caused by biallelic pathogenic variants in NPHP3, which encode nephrocytin, an important component of the ciliary protein complex. The NPHP3-related disease phenotype is diverse with RHPD1, nephronophthisis-3, and Meckel syndrome-7. In this case report, we present a female infant with hepatomegaly, cholestasis, and elevated transaminases who was found to carry a homozygous c.2975C > T variant of NPHP3. This is the first description of this genotype and RHPD1 phenotype in the literature. The patient is currently being closely monitored for the necessity of combined renal and liver transplantation under supportive treatment.

Keywords

renal–hepatic–pancreatic dysplasia - NPHP3 - ciliopathy

Full Text

References

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