Progressive Familial Intrahepatic Cholestasis in Indian Children - Establishing an Indian PFIC Registry

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.

Inclusion Criteria:Genetically proven homozygous or compound heterozygous mutations of ATP8B1/ ABCB11/ ABCB4/ TJP2/ NR1H4/ MYO5B/ USP53/ KIF12 ANDClinical and biochemical evidence of chronic cholestatic disease AND / ORHistological features of intrahepatic cholestasis with suggestive immunohistochemistryExclusion Criteria:Genetic analysis showing mutations unrelated to intrahepatic cholestasis according to databaseClinical, biochemical, and histological evidence of progressive familial intrahepatic cholestasis without a genetic sequencing report