Year 2025 / Volume 117 / Number 11
Letter
amilial intrahepatic cholestasis - An uncommon cause of jaundice in young patients

672-673

DOI: 10.17235/reed.2024.10628/2024

Ana Plaza Fernández, Marta Fernández Carrasco, Olga Sánchez García,

Abstract
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders resulting from mutations in genes involved in bile secretion, characterized by chronic cholestasis. The onset is typically in early childhood, with main clinical manifestations including jaundice, pruritus, and symptoms related to malabsorption, which can rapidly progress to liver failure. We present a case of PFIC secondary to myosin 5B mutations.
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References
1. Gonzales E, Taylor SA, Davit-Spraul A, Thébaut A et al. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease. Hepatology. 2017; 65(1):164-173. doi: 10.1002/hep.28779.
2. Sriram Amirneni, Nils Haep, Mohammad A Gad et al. Molecular overview of progressive familial intrahepatic cholestasis. World J Gastroenterol. 2020; 26(47): 7470-7484. doi: 10.3748/wjg.v26.i47.7470
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Plaza Fernández A, Fernández Carrasco M, Sánchez García O. amilial intrahepatic cholestasis - An uncommon cause of jaundice in young patients. 10628/2024


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Publication history

Received: 03/07/2024

Accepted: 11/07/2024

Online First: 28/08/2024

Published: 11/11/2025

Article Online First time: 56 days

Article editing time: 496 days


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