Email this article Progressive familial intrahepatic cholestasis type 2 on the example of one family. Liver transplantation as an effective treatment method. Case report
- Authors: Loskutova S.A.1, Belousova T.V.1, Nikulina A.B.1, Blagitko N.E.2, Plyushkin V.A.1
-
Affiliations:
- Novosibirsk State Medical University
- State Novosibirsk Regional Clinical Hospital
- Issue: No 1 (2023)
- Pages: 81-85
- Section: Articles
- URL: https://pediatria.orscience.ru/2658-6630/article/view/472469
- DOI: https://doi.org/10.26442/26586630.2023.1.202186
- ID: 472469
Cite item
Full Text
Abstract
The article presents the structure of diseases that led to the need for liver sector transplantation in children living in the Novosibirsk region. The paper provides a detailed description of progressive familial intrahepatic cholestasis, principles of modern diagnosis and treatment. A description of the medical history of family members and, in particular, a clinical case in a young child with type 2 PFIC (Byler's syndrome) is given.
Full Text
About the authors
Svetlana A. Loskutova
Novosibirsk State Medical University
Email: plyushkin@ngs.ru
ORCID iD: 0000-0003-2673-0880
D. Sci. (Med.)
Russian Federation, NovosibirskTamara V. Belousova
Novosibirsk State Medical University
Email: belousovatv@ngs.ru
ORCID iD: 0000-0002-4234-9353
D. Sci. (Med.), Prof.
Russian Federation, NovosibirskAnna B. Nikulina
Novosibirsk State Medical University
Email: plyushkin@ngs.ru
ORCID iD: 0000-0002-7199-2161
Assistant
Russian Federation, NovosibirskNatalia E. Blagitko
State Novosibirsk Regional Clinical Hospital
Email: plyushkin@ngs.ru
ORCID iD: 0000-0002-1066-077X
Cand. Sci. (Med.)
Russian Federation, NovosibirskValeriy A. Plyushkin
Novosibirsk State Medical University
Author for correspondence.
Email: plyushkin@ngs.ru
ORCID iD: 0000-0002-3402-839X
Cand. Sci. (Med.)
Russian Federation, NovosibirskReferences
- Шалаева В.И. Прогрессирующий внутрипеченочный холестаз (болезнь Байлера). Новости медицины и фармации. 2011;5(390):59-60 [Shalaieva VI. Progressiruiushchii vnutripechenochnyi kholestaz (bolezn' Bailera). Novosti meditsiny i farmatsii. 2011;5(390):59-60 (in Russian)].
- Обухович А.Р., Иоскевич Н.Н. Прогрессирующий семейный внутрипеченочный холестаз: диагностика, лечение (клиническое наблюдение). Журнал Гродненского государственного медицинского университета. 2021;19(4):462-7 [Obukhovich AR, Ioskevich NN. Progressiruiushchii semeinyi vnutripechenochnyi kholestaz: diagnostika, lecheniie (klinicheskoie nablyudeniie). Zhurnal Grodnenskogo gosudarstvennogo meditsinskogo universiteta. 2021;19(4):462-7 (in Russian)].
- Paulusma C, Ronald P, Elferink O, Jansen P. Progressive familial intrahepatic cholestasis type 1. Semin Liver Dis. 2010;30(2):117-24.
- Хандогина А.С. Особенности течения семейного внутрипеченочного прогрессирующего холестаза I и II типа (PFIC I и PFIC II). Педиатрическая фармакология. 2015;12(2):222 [Handogina AS. Peculiarities of progressing family interliver cholestasia of types I and II (PFIC I and PFIC II). Pediatric pharmacology. 2015;12(2):222 (in Russian)].
- Волынец Г.В., Намазова-Баранова Л.С., Потапов А.С., и др. Особенности ранней диагностики прогрессирующего семейного внутрипеченочного холестаза. Российский педиатрический журнал. 2016;19(6):332-8 [Volynets GV, Namazova-Baranova LS, Potapov AS, et al. Features of early diagnosis of progressive familial intrahepatic cholestasis (PFIC). Russian Pediatric Journal. 2016;19(6):332-8 (in Russian)].
- Varma S, Revencu N, Stephenne X, et al. Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2. Hepatology. 2015;62(1):198-206.
- Hayashi H., Sugiyama Y. Bile salt export pump (BSEP/ABCB11): trafficking and sorting disturbances. Curr Mol Pharmacol. 2013;6(2):95-103.
- Soroka CJ, Boyer JL. Biosynthesis and trafficking of the bile salt export pump, BSEP: therapeutic implications of BSEP mutations. Mol Aspects Med. 2014;37(1):3-14.
- Ивашкин В.Т., Широкова Е.Н., Маевская М.В., и др. Клинические рекомендации Российской гастроэнтерологической ассоциации и Российского общества по изучению печени по диагностике и лечению холестаза. Российский журнал гастроэнтерологии, гепатологии и колопроктологии. 2015;25(2):41-57 [Ivashkin VT, Shirokova EN, Maevskaya MV, et al. Clinical guidelines of the Russian gastroenterological association and the Russian society on study of the liver on diagnostics and treatment of cholestasis. Russian Journal of Gastroenterology, Hepatology, Coloproctology. 2015;25(2):41-57 (in Russian)].
- Силивончик Н.Н. Урсодезоксихолевая кислота в лечении холестатических заболеваний печени. Медицинские новости. 2019;12:29-33 [Silivontchik NN. Ursodeoxycholic acid in treatment of cholestatic liver diseases. Meditsinskiie novosti. 2019;12:29-33 (in Russian)].
Supplementary files
