mvjrМедицинский вестник Юга РоссииMedical Herald of the South of Russia2219-80752618-7876The Rostov State Medical University10.21886/2219-8075-2023-14-1-56-65mvjr-1624Research ArticleПЕДИАТРИЯPAEDIATRICSКлинический случай семейной формы наследственного заболевания обмена веществ из группы пероксисомных болезней (дефицит Д-бифункционального белка) в неонатальном периоде (кодирование по МКБ-10 — Е88.8)A clinical case of a familial form of hereditary metabolic disease from the group of peroxisomal diseases (D-bifunctional protein deficiency) in the neonatal periodhttps://orcid.org/0000-0002-5810-3200БережанскаяС. Б.BerezhanskayaS. B.

Бережанская Софья Борисовна, д.м.н., профессор, главный научный сотрудник педиатрического отдела 

Ростов-на-Дону

Sofya B. Berezhanskaya, Dr. Sci. (Med.), Professor, Chief Researcher, Pediatric Department 

Rostov-on-Don

mazyar36@mail.ruhttps://orcid.org/0000-0003-1078-8391АфонинА. А.AfoninA. A.

Афонин Александр Алексеевич, д.м.н., профессор, главный научный сотрудник педиатрического отдела 

Ростов-на-Дону

Alexander A.Afonin, Dr. Sci. (Med.), Professor, Chief Researcher, Pediatric Department 

Rostov-on-Don

a.afonin@rniiap.ruhttps://orcid.org/0000-0001-9665-257XВострыхН. Н.VostrikhN. N.

Вострых Наталья Николаевна, к.м.н., заведующая педиатрическим отделением №2 

Ростов-на-Дону

Natalya N. Vostrykh, Cand. Sci. (Med.), Head, Department of Young Children 

Rostov-on-Don

N.Vostrykh@rniiap.ruhttps://orcid.org/0000-0002-4411-4726ЛазареваК. И.LazarevaK. I.

Лазарева Карина Иоганесовна, к.м.н., заведующая отделением патологии новорожденных и недоношенных детей 

Ростов-на-Дону

Karina I. Lazareva, Cand. Sci. (Med.), Head, department of Pathology of newborns and premature babie 

Rostov-on-Don

Karina_manukyan_1969@mail.ruhttps://orcid.org/0000-0001-7718-3528ЛогиноваИ. Г.LoginovaI. G.

Логинова Ирина Георгиевна, к.м.н., заместитель главного врача по педиатрии 

Ростов-на-Дону

Irina G. Loginova, Cand. Sci. (Med.), Deputy Chief Physician for Pediatrics 

Rostov-on-Don

logirina243@gmail.comhttps://orcid.org/0000-0002-0036-4926КравченкоЛ. В.KravchenkoL. V.

Кравченко Лариса Вахтанговна, д.м.н., ведущий  научный  сотрудник  педиатрического отдела 

Ростов-на-Дону

Larisa V.Kravchenko, Dr. Sci. (Med.), leading researcher, Pediatric Department 

Rostov-on-Don

larakra@list.ruhttps://orcid.org/0000-0003-1031-8058МедоянА. В.MedoyanA. V.

Медоян Арменуи Ванновна, врач-генетик, консультативный отдел медико-генетического центра 

Ростов-на-Дону

Armenui I. Madoyan, geneticist, advisory department of the medical and genetic Center 

Rostov-on-Don

Vito.38@mail.ruhttps://orcid.org/0000-0001-6649-5235МонатЛ. И.MonatL. I.

Монат Любовь Игоревна, врач-неонатолог отделения патологии новорожденных и недоношенных детей 

Ростов-на-Дону

Lyubov I. Monat, neonatologist, department of Pathology of newborns and premature babies 

Rostov-on-Don

lim_07@inbox.ruНаучно-исследовательский институт акушерства и педиатрии, Ростовский государственный медицинский университетРоссияResearch Institute of Obstetrics and Pediatrics, Rostov State Medical UniversityRussian Federation2023280320231415665Copyright © Бережанская С.Б., Афонин А.А., Вострых Н.Н., Лазарева К.И., Логинова И.Г., Кравченко Л.В., Медоян А.В., Монат Л.И., 20232023Бережанская С.Б., Афонин А.А., Вострых Н.Н., Лазарева К.И., Логинова И.Г., Кравченко Л.В., Медоян А.В., Монат Л.И.Berezhanskaya S.B., Afonin A.A., Vostrikh N.N., Lazareva K.I., Loginova I.G., Kravchenko L.V., Medoyan A.V., Monat L.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medicalherald.ru/jour/article/view/1624

Представлен клинический случай семейной формы дефицита пероксисомального D-бифункционального белка (DBP) (OMIM 261515) с неблагоприятным (летальным) исходом, обусловленным мутацией в 17β-гидрокси стероиддегидрогеназе 4 типа (HSD17B4) с нуклеотидной заменой chr5:118788316G>А в гомозиготном состоянии. (дефицит Д-бифункционального белка или недостаточность 17-бета-гидроксистероид дегидрогеназы IV). Дефицит бифункционального белка является аутосомно-рецессивным врождённым дефектом пероксисомального окисления жирных кислот. Общая частота встречаемости заболеваемости — 1:50000 новорожденных. Большинство пероксисомальных расстройств проявляются в раннем неонатальном периоде крайне тяжёлым течением и фенотипическими особенностями, что облегчает их диагностику. В этом их отличие от заболеваний с более мягким и пролонгированным течением, дебютировавших в разные возрастные периоды, часто не имевших неонатальных или инфантильных симптомов и сопровождавшиеся, в ряде случаев, удовлетворительными когнитивными функциями. 

A clinical case of a familial form of peroxisomal D-bifunctional protein (DBP) deficiency (OMIM 261515) with an unfavorable (fatal) outcome caused by a mutation in type 4 17ß-hydroxysteroid dehydrogenase (HSD17B4) with a nucleotide replacement of chr5:118788316G>A in the homozygous state is presented. (D-bifunctional protein deficiency or 17-beta-hydroxysteroid dehydrogenase IV deficiency). Bifunctional protein deficiency is an autosomal recessive birth defect of peroxisomal fatty acid oxidation. The total incidence of morbidity is one case per 50,000 newborns. Most peroxisomal disorders manifest in the early neonatal period with an extremely severe course and phenotypic features, which facilitates their diagnosis. This is the difference between them and diseases with a milder and prolonged course, which debuted at different age periods, often had no neonatal or infantile symptoms and were accompanied, in some cases, by satisfactory cognitive functions. The purpose of the report was to highlight the clinical manifestations, variants of the course and complexity of the diagnosis of peroxisomal disorders to a wide range of doctors of different specialization: in the field of perinatology, pediatrics, neurology, genetics, endocrinology.

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