Progressive familial intrahepatic cholestasis: literature review and clinical case

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Abstract

Progressive familial intrahepatic cholestasis (PFICH) is a group of autosomal recessive disorders manifesting primarily in childhood, less commonly in adulthood, and leading to liver cirrhosis development. Current article presents a narrative review discussing the genetic prerequisites, pathogenesis, diagnostic peculiarities, and current approaches to the treatment of PFICH, as well as a clinical observation of a patient with type 1 PFICH.

About the authors

Igor G. Bakulin

I.I. Mechnikov North-Western State Medical University of the Ministry of Healthcare of Russia

Email: meunbersh@gmail.com
ORCID iD: 0000-0002-6151-2021
Scopus Author ID: 6603812937

MD, Dr. Sci. (Medicine), professor of the Department of propaedeutics of internal medicine, gastroenterology and dietetics named after S.M. Ryss

Russian Federation, Saint Petersburg

Maria M. Bereznitskaya

I.I. Mechnikov North-Western State Medical University of the Ministry of Healthcare of Russia

Author for correspondence.
Email: meunbersh@gmail.com
ORCID iD: 0009-0007-1407-1378

MD, first-year postgraduate student in epidemiology and internal medicine

Russian Federation, Saint Petersburg

Elena B. Avalueva

I.I. Mechnikov North-Western State Medical University of the Ministry of Healthcare of Russia

Email: meunbersh@gmail.com
ORCID iD: 0000-0001-6011-0998
Scopus Author ID: 8902888000

MD, Dr. Sci. (Medicine), professor, professor of the Department of propaedeutics of internal medicine, gastroenterology and dietetics named after S.M. Ryss

Russian Federation, Saint Petersburg

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