A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

Autor:	Sunil Pawar, Vinay Zanwar, Ashok Mohite, Ravindra Surude, Pravin Rathi, Meenakshi Balasubramani
Jazyk:	angličtina
Rok vydání:	2015
Předmět:	Congenital hepatic fibrosis retinitis pigmentosa esophageal varices. Medicine (General) R5-920
Zdroj:	Clinics and Practice, Vol 5, Iss 4 (2015)
Druh dokumentu:	article
ISSN:	2039-7275 2039-7283
DOI:	10.4081/cp.2015.792
Popis:	Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa. They presented with repeated episodes of jaundice along with progressive decrease of vision in night. They had hepatosplenomegaly and portal hypertension with esophageal varices. One of the siblings had a large regenerating nodule replacing the entire right lobe of the liver and other one developed repeated hematemesis. This constellation of diagnosis belongs to the ciliopathy group of disorders. The spectrum of ciliopathy disorders has been evolving, and it varies from mild to severe manifestations.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/113eff2777fe449c866db5161cef9db6 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF