Open AccessRenal–Hepatic–Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype
Author(s) -
Yeliz Çağan Appak,
Maşallah Baran,
Burcu Hışmi,
Berk Özyılmaz,
Kader Vardı,
Özge Kaya,
B. Serdar Aksoy,
Belde Kasap Demir
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1696974
Subject(s) - ciliopathy , nephronophthisis , phenotype , gastroenterology , liver transplantation , genotype , medicine , cholestasis , rare disease , pathology , biology , transplantation , disease , genetics , gene
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.