nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-227-7-100-105nogr-2788Research ArticleПЕДИАТРИЯPEDIATRICSПрогрессирующий семейный внутрипечёночный холестаз: краткий обзор литературы и собственное клиническое наблюдениеProgressive familial intrahepatic cholestasis: a brief review of the literature and our own clinical observationhttps://orcid.org/0000-0002-4060-9692ГудковР. А.GudkovR. A.comancherro@mail.ruhttps://orcid.org/0000-0002-8202-3876ДмитриевА. В.DmitrievA. V.noemail@neicon.ruhttps://orcid.org/0000-0001-6307-7249ФединаН. В.FedinaN. V.noemail@neicon.ruhttps://orcid.org/0000-0001-5205-0956ПетроваВ. И.PetrovaV. I.noemail@neicon.ruhttps://orcid.org/0000-0002-3915-2242БлоховаЕ. Э.BlokhovaE. E.noemail@neicon.ruhttps://orcid.org/0009-0005-6720-3472ТерзиеваМ. Р.TerzievaM. R.noemail@neicon.ruФедеральное государственное бюджетное образовательное учреждение высшего образования Рязанский государственный медицинский университет им. акад. И. П. Павлова Минздрава РоссииРоссияRyazan State Medical UniversityRussian Federation20242210202407100105Copyright © Гудков Р.А., Дмитриев А.В., Федина Н.В., Петрова В.И., Блохова Е.Э., Терзиева М.Р., 20242024Гудков Р.А., Дмитриев А.В., Федина Н.В., Петрова В.И., Блохова Е.Э., Терзиева М.Р.Gudkov R.A., Dmitriev A.V., Fedina N.V., Petrova V.I., Blokhova E.E., Terzieva M.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.nogr.org/jour/article/view/2788

Прогрессирующий семейный внутрипечёночный холестаз является одной из причин прямой гипербилирубинемии у детей раннего возраста и необходимость его диагностики возникает после исключения таких, более частых причин холестаза, как билиарная атрезия, синдром Алажиля, а также инфекционных и лекарственных гепатопатий. Опорным диагностическим признаком, позволяющим заподозрить рассматриваемую патологию, является отсутствие повышения уровня γ-глутаминтранспептидазы. К настоящему времени описано 12 типов прогрессирующего семейного внутрипечёночного холестаза. Для большинства из них описаны, как тяжёлые случаи с неонатальной манифестацией и быстрым прогрессированием до цирроза, так и варианты с поздним развитием и относительно доброкачественным течением. В статье представлены краткие генетические и фенотипические характеристики всех 12 типов патологии. Представлено собственное наблюдение пациента, клинико-лабораторная картина которого соответствовала синдрому Байлера, однако выявленные генетические характеристики не соответствовали ни одному из известных типов.

Progressive familial intrahepatic cholestasis is one of the causes of direct hyperbilirubinemia in young children and the need for its diagnosis arises after the exclusion of such more common causes of cholestasis as biliary atresia, Alajille syndrome, as well as infectious and medicinal hepatopathies. The basic diagnostic feature that allows us to suspect the pathology in question is the absence of an increase in the level of γ-glutamine trans peptidase. To date, 12 types of progressive familial intrahepatic cholestasis have been described. For most of them, both severe cases with neonatal manifestation and rapid progression to cirrhosis, as well as variants with late development and a relatively benign course, are described. The article presents brief genetic and phenotypic characteristics of all 12 types of pathology. The author presents his own observation of a patient whose clinical and laboratory picture corresponded to Byler’s syndrome, but the identified genetic characteristics did not correspond to any of the known types.

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