REVIEW ARTICLE
Pediatrics
doi: 10.25005/2074-0581-2025-27-1-143-154
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS IN CHILDREN

R.A. GUDKOV, A.V. DMITRIEV, N.V. FEDINA, V.I. PETROVA

Department of Pediatric Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University named after Acad. I.P. Pavlov, Ryazan, Russian Federation

Objective: To analyze the literature on the epidemiology and pathogenesis of different types of progressive familial intrahepatic cholestasis (PFIC).

Methods: A literature search was conducted on the PubMed platform using the following keywords: progressive familial intrahepatic cholestasis, Byler's disease and syndrome, and neonates. A total of 76 scientific papers published in the past 10 years were selected and analyzed.

Results: PFIC currently encompasses 12 types, all characterized by defective synthesis of proteins that facilitate bile acid transport. Although there are some differences among the types, they generally present with similar clinical symptoms. The diagnosis of most PFIC types can begin by identifying a normal level of γ-glutamyl peptidase in a child who is experiencing direct hyperbilirubinemia.

Conclusion: In the past decade, genetic studies have greatly enhanced our understanding of cholestatic diseases. These studies have uncovered a variety of phenotypes, ranging from severe forms that manifest early to more benign cases that show a temporary neonatal presentation. Additionally, some cases may feature recurrent mild symptoms or develop cholestasis due to pregnancy or certain medications.

Keywords: Progressive familial intrahepatic cholestasis, newborns, children, cholestatic jaundice, direct hyperbilirubinemia.

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Authors' information:

Gudkov Roman Anatolyevich,
Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University named after Acad. I.P. Pavlov
ORCID ID: 0000-0002-4060-9692
SPIN: 3065-4800
Author ID: 759674
E-mail: comancherro@mail.ru

Dmitriev Andrey Vladimirovich,
Doctor of Medical Sciences, Full Professor, Head of the Department of Pediatric Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University named after Acad. I.P. Pavlov
ORCID ID: 0000-0002-8202-3876
SPIN: 9059-2164
Author ID: 759673
E-mail: aakavd@yandex.ru

Fedina Natalia Vasilyevna,
Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University named after Acad. I.P. Pavlov
ORCID ID: 0000-0001-6307-7249
SPIN: 2128-5240
Author ID: 459890
E-mail: k2ataka@mail.ru

Petrova Valeria Igorevna,
Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University named after Acad. I.P. Pavlov
ORCID ID: 0000-0001-5205-0956
SPIN: 2747-5836
Author ID: 407425
E-mail: gtpf17@gmail.com

Information about support in the form of grants, equipment, medications

The authors did not receive financial support from manufacturers of medicines and medical equipment

Conflicts of interest: No conflict

Address for correspondence:

Fedina Natalia Vasilyevna
Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Diseases with a Course in Hospital Pediatrics, Ryazan State Medical University named after Acad. I.P. Pavlov

390026, Russian Federation, Ryazan, Vysokovoltnaya str., 9

Tel.: +7 (953) 7426836

E-mail: k2ataka@mail.ru


This work is licensed under a Creative Commons Attribution 4.0 International License.

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