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The clinical course after liver transplantation (LT) in progressive familial intrahepatic cholestasis type 1 (PFIC1) is complicated by intractable diarrhoea, growth failure, graft steatosis and cirrhosis. Recent evidence from Japan suggests the role of genotype to predict outcome after LT. We report a case with pathogenic frameshift mutation who had failed partial external biliary diversion, underwent LT and his post-LT course has been complicated by intractable diarrhoea, growth failure, steatosis and fibrosis. This case highlights the fact that homozygous frameshift p.Gly197LeufsTer10 mutation in ATP8B1 is associated with poor outcome and genetic evaluation should be mandatory before subjecting the patient to LT.

Clinical practice guidelines for Wilson's disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition. A need was felt to harmonize guidelines for the hepatic, pediatric, and neurological aspects of the disease and contextualize them to the resource-constrained settings. Therefore, experts from national societies from India representing 3 disciplines, hepatology (Indian National Association for Study of the Liver), pediatric hepatology (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition), and neurology (Movement Disorders Society of India) got together to evolve fresh guidelines. A literature search on retrospective and prospective studies of WD using MEDLINE (PubMed) was performed. Members voted on each recommendation, using the nominal voting technique. The Grades of Recommendation, Assessment, Development and Evaluation system was used to determine the quality of evidence. Questions related to diagnostic tests, scoring system, and its modification to a version suitable for resource-constrained settings were posed. While ceruloplasmin and 24-h urine copper continue to be important, there is little role of serum copper and penicillamine challenge test in the diagnostic algorithm. A new scoring system - Modified Leipzig score has been suggested with extra points being added for family history and serum ceruloplasmin lower than 5 mg/dl. Liver dry copper estimation and penicillamine challenge test have been removed from the scoring system. Differences in pharmacological approach to neurological and hepatic disease and global monitoring scales have been included. Rising bilirubin and worsening encephalopathy are suggested as indicators predicting need for liver transplant but need to be validated. The clinical practice guidelines provide recommendations for a comprehensive management of WD which will be of value to all specialties.

Objectives Kasai portoenterostomy (KPE) is the primary treatment for biliary atresia (BA) with subsequent liver transplantation in failed cases. The aim of this work was to study the outcome of KPE in children with BA and identify the factors predicting a successful KPE. Methods Children diagnosed with BA and undergoing KPE between January 2010 and January 2018 were included in the study. A successful KPE was defined as decrease in bilirubin to less than 2 mg/dL at 6 months after KPE. Factors affecting the outcome (successful KPE and survival with native liver [SNL] at 2 years) were evaluated by logistic regression. Results A total of 79 children with post-KPE BA were included. Successful KPE was achieved in 29 (36.7%) of 79 children undergoing KPE. The data for survival with native liver at 2 years were available for 61 children as 9 were lost to follow up before 2 years and another 9 were aged less than 2 years at the time of analysis. Twenty-seven (44.3%) of these 61 survived with their native liver at 2 years. On logistic regression analysis, lower age at KPE, use of postoperative steroids and absence of cholangitis were significant predictors of a successful KPE. A successful KPE at 6 months was the lone independent predictor of SNL at 2 years in these children. Conclusion Early age at KPE, use of postoperative steroid and prevention of cholangitis can result in successful KPE. Those with successful KPE are likely to survive with their native liver at 2 years.

Cholemic or bile cast nephropathy is an under-reported entity characterized by acute renal dysfunction in patients with hepatic insult. Limited literature is available regarding its clinical presentation, pathogenesis and prognosis. We hereby present a pediatric case who presented with acute on chronic liver failure with renal dysfunction secondary to cholemic nephropathy.