A Child with Debilitating Pruritus

Abstract

We describe a case of two-year-old boy presenting with debilitating pruritus, patchy alopecia and jaundice since the age of 6 months. On evaluation he had intrahepatic cholestasis with persistently raised serum alkaline phosphatase, normal Gamma glutamyl transferase and raised serum bile acid levels. His liver biopsy showed bland cholestasis and electron microscopy showed granular bile suggestive of progressive familial intrahepatic cholestasis type I. Medical therapy with ursodeoxycholic acid, cholestyramine, rifampicin with nutritional modification was successful in alleviating the symptoms and correcting the nutritional status. To our knowledge this is only the sixth case of progressive familial intrahepatic cholestasis type I reported from India. Herein we discuss the diagnostic and therapeutic hurdles that one encounters in managing progressive familial intrahepatic cholestasis and also review the literature regarding this rare disorder.

Amyloid, Crohn’s disease, and Alzheimer’s disease - are they linked?

“…This protein is a constituent of various healthy tissues, including the heart, muscle, liver, kidney, and brain. However, under favorable conditions, it can also become pathogenic in these tissues (Sonthalia et al, 2016;Martıńez-Naharro et al, 2018;Pinto et al, 2021;Deng et al, 2022;Gurung and Li, 2022). Furthermore, previous studies have confirmed that human amyloid and bacterial amyloid share many common features, undoubtedly warranting a more in-depth analysis (Das et al, 2022;Bessho et al, 2023).…”

Progressive familial intrahepatic cholestasis in children

“…However it has not been showed to be useful in children with PFIC1-2. The recommended dose of cholestyramine is 240 mg/kg/day PO, in three divided doses [26].…”