detinfДЕТСКИЕ ИНФЕКЦИИCHILDREN INFECTIONS2072-81072618-8139Association of Pediatricians and Infection Disease doctors10.22627/2072-8107-2026-25-2-42-48detinf-1193Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEW OF THE LITERATUREДефицит D-бифункционального белка и расстройства спектра Цельвегера: клинико-генетические параллели и дифференциальная диагностикаD-bifunctional protein deficiency and Zellweger spectrum disorders: clinical-genetic parallels and differential diagnosishttps://orcid.org/0009-0004-0542-1661СемекоО. Р.SemekoO. R.

Семеко Ольга Романовна – студент.

Москва

Moscow

olga.semeko@yandex.ruhttps://orcid.org/0000-0001-7305-9036СаркисянЕ. А.SarkisyanH. A.

Саркисян Егине Альбертовна - к.м.н., доцент кафедры госпитальной педиатрии им. академика В.А. Таболина.

Москва

Moscow

heghinesarg@gmail.comhttps://orcid.org/0009-0003-8625-7199МущероваД. М.MushcherovaD. M.

Мущерова Диана Максимовна - клинический ординатор кафедры госпитальной педиатрии им. академика В.А. Таболина.

Москва

Moscow

diana.muscherova@mail.ruhttps://orcid.org/0009-0001-0006-7120ДайхесА. Н.DaikhesA. N.

Дайхес Алена Николаевна – студент.

Москва

Moscow

Alyona.daykhes@yandex.ruhttps://orcid.org/0009-0008-8050-874XКирилловаМ. А.KirillovaM. A.

Кириллова Мария Антоновна – студент.

Москва

Moscow

marshantsiya@gmail.comhttps://orcid.org/0000-0002-9567-6761ШумиловП. В.ShumilovP. V.

Шумилов Петр Валентинович - д.м.н., профессор, заведующий кафедрой госпитальной педиатрии им. академика В.А. Таболина.

Москва

Moscow

peter_shumilov@mail.ruФГАОУ ВО «Российский национальный исследовательский медицинский университет имени Н.И. Пирогова» (Пироговский Университет) Министерства здравоохранения Российской ФедерацииN.I. Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, (Pirogov University)2026030720262524248Copyright © Семеко О.Р., Саркисян Е.А., Мущерова Д.М., Дайхес А.Н., Кириллова М.А., Шумилов П.В., 20262026Семеко О.Р., Саркисян Е.А., Мущерова Д.М., Дайхес А.Н., Кириллова М.А., Шумилов П.В.Semeko O.R., Sarkisyan H.A., Mushcherova D.M., Daikhes A.N., Kirillova M.A., Shumilov P.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://detinf.elpub.ru/jour/article/view/1193

Синдром Цельвегера (МКБ-10: Q87.8; OMIM: #214100) — мультисистемное пероксисомное заболевание, обусловленное аутосомно-рецессивной мутацией в генах РЕХ-семейства. Отличительными чертами патологии являются лицевой дисморфизм и неврологические нарушения, проявляющиеся судорогами, гипотонией, эпилептическими припадками и лейкодистрофией. Схожую симптоматику имеет другое заболевание из спектра нарушения биогенеза пероксисом, обусловленное аутосомно-рецессивной мутацией в гене HSD17B4 и нашедшее в международной номенклатуре болезней название дефицит D-бифункционального белка (МКБ-10: Е88.8; OMIM: #261515). Несмотря на различия в молекулярно-генетической основе, вышеуказанные заболевания имеют значительное фенотипические сходства, что существенно затрудняет их клиническую дифференциацию и требует проведения молекулярно-генетических исследований для верификации диагноза. Целью работы является обобщение современных литературных данных о синдроме Цельвегера и дефиците D-бифункционального белка, а также анализ их клинического сходства, особенностей дифференциальной диагностики и современных подходов к лечению. Материалы и методы: проведен анализ отечественной и зарубежной научной литературы, посвященной синдрому Цельвегера и дефициту D-бифункционального белка, с использованием электронных баз данных PubMed, NIH, Google Shcolar, ResearchGate и научной библиотеки eLibrary.ru; отобраны и систематизированы данные о клинических проявлениях, молекулярно-генетических особенностях, диагностических критериях и терапевтических стратегиях, включая современные направления таргетной терапии.

Zellweger syndrome (ICD-10: Q87.8; OMIM: #214100) is a multisystemic peroxisomal disorder caused by an autosomal recessive mutation in genes of the PEX family. Distinctive features of the condition include facial dysmorphism and neurological disorders, manifesting as convulsions, hypotonia, epileptic seizures and leukodystrophy. A similar set of symptoms is seen in another disorder within the spectrum of peroxisomal biogenesis disorders, caused by an autosomal recessive mutation in the HSD17B4 gene and designated in the international nomenclature of diseases as D-bifunctional protein deficiency (ICD-10: E88.8; OMIM: #261515). Despite differences in their molecular-genetic basis, the aforementioned diseases share significant phenotypic similarities, which considerably complicates their clinical differentiation and necessitates molecular-genetic testing to verify the diagnosis. The aim of this study is to review the current literature on Zellweger syndrome and D-bifunctional protein deficiency, and to analyse their clinical similarities, the characteristics of their differential diagnosis, and current treatment approaches. Materials and methods: An analysis was conducted of domestic and international scientific literature on Zellweger syndrome and D-bifunctional protein deficiency, using the electronic databases PubMed, NIH, Google Scholar, ResearchGate and the eLibrary.ru scientific library; data on clinical manifestations, molecular-genetic characteristics, diagnostic criteria and therapeutic strategies, including modern approaches to targeted therapy, were selected and systematised.

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The authors declare that there are no conflicts of interest present.