Living Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 13 (PFIC 13)

Cholestasis secondary to protein serine kinase H1 (PSKH1) is a recently described entity, which leads to chronic liver disease in childhood or early teenage years with or without renal insufficiency. Mutations in the PSKH1 gene reduce PSKH1's kinase activity, leading to abnormally long and convoluted cilia in renal tubules and bile ducts, disrupting normal function. There are very few reports highlighting the outcomes of liver transplantation (LT) for PSKH1-related liver disease. There have been no reports of PSKH1-induced cholestasis reported from India till date. We describe the first report of Living donor liver transplantation (LDLT) for PSKH1-related chronic liver disease from India and also discuss the clinical presentation, management challenges and the safety of utilizing heterozygous donors in this situation.