There is a lack of robust literature from India on PFIC. The study would be the first to extensively describe the genotype of Indian children with PFIC and their natural course. Being a multicentric study, the results generated would therefore be applicable to the whole of the country. Understanding the prevalent genotypes in the Indian population and their related phenotype would help both the individual management decisions of these patients and further policy-making for their diagnosis and treatment. With the advent of genetic diagnosis through sequencing techniques and these tests becoming more affordable, every Indian center is now diagnosing a fair number of these cases which used to go undiagnosed previously. This has changed the landscape of cholestatic liver disease in children where PFICs are now the most prevalent pediatric cholestatic disorder. European studies have demonstrated 2 common mutations where patients respond very well to surgical biliary diversion and have good native liver survival. These mutations have rarely been reported in India. Results from this study could thus guide appropriate decision-making based on outcome and help choose the modality of treatment for the individual patient - medical, surgical biliary diversion, or liver transplantation.
The project will amalgamate data from several large Indian centers to describe the genotype, clinical spectrum, natural course, genotype-phenotype correlation, outcome, and response to medical therapy in Indian children with progressive familial intrahepatic cholestasis (PFIC). This will be the first such Indian registry of children with PFIC. There are currently limited single-center studies describing the genotype, natural course, and outcome of Indian children with PFIC.~Data will be collected retrospectively from the participating centers across the country. Only genetically confirmed cases would be included.