A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa | Zendy

Sunil Pawar | Zendy; Vinay Zanwar | Zendy; Ashok Mohite | Zendy; Ravindra Surude | Zendy; Pravin Rathi | Zendy; Meenakshi Balasubramani | Zendy

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A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa

Author(s) -

Sunil Pawar,

Vinay Zanwar,

Ashok Mohite,

Ravindra Surude,

Pravin Rathi,

Meenakshi Balasubramani

Publication year - 2015

Publication title -

clinics and practice

Language(s) - English

Resource type - Journals

ISSN - 2039-7283

DOI - 10.4081/cp.2015.792

Subject(s) - congenital hepatic fibrosis , medicine , ciliopathy , hepatosplenomegaly , portal hypertension , esophageal varices , retinitis pigmentosa , jaundice , liver biopsy , biliary atresia , gastroenterology , retinitis , biopsy , pathology , pediatrics , cirrhosis , ophthalmology , disease , retinal , liver transplantation , transplantation , biochemistry , chemistry , virus , virology , human cytomegalovirus , gene , phenotype

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

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