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

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 wit...

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Veröffentlicht in:Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2020-06, Vol.9 (2), p.101-103
Hauptverfasser: Cagan Appak, Yeliz, Baran, Masallah, Ozturk Hismi, Burcu, Ozyilmaz, Berk, Vardi, Kader, Ozer Kaya, Ozge, Aksoy, Betul, Kasap Demir, Belde
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Sprache:eng
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Zusammenfassung: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.
ISSN:2146-4596
2146-460X
DOI:10.1055/s-0039-1696974