medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2025-6-22-25medalphabet-4338Research ArticleСтатьиКлинический случай галактоземии I типа у ребенка с компаунд-гетерозиготной мутацией в гене GALT: C.267CG (p. Tyr89Term), C.563A (p.Gln188Arg)A clinical case of galactosemia type I in a child with a compound heterozygous mutation in the gene: C.267CG (p. Tyr89Term), C.563A (p.Gln188Arg)https://orcid.org/0000-0003-3623-5752ДмитриевА. В.DmitrievA. V.

Дмитриев Андрей Владимирович, д. м. н., проф., зав. кафедрой детских болезней с курсом госпитальной педиатрии,

Рязань.

Dmitriev Andrey V., DM Sci (habil.), Professor, Head of Pediatric Diseases with a Course in Hospital Pediatrics,

Ryazan.

aakavd@yandex.ruhttps://orcid.org/0000-0003-2960-7044ФединаН. В.FedinaN. V.

Федина Наталья Васильевна, к. м. н., доцент, доцент кафедры детских болезней с курсом госпитальной педиатрии,

г. Рязань.

Fedina Natalia V., PhD Med, Associate Professor at Dept of Pediatric Diseases with a Course in Hospital Pediatrics,

Ryazan.

k2ataka@mail.ruhttps://orcid.org/0000-0003-0836-7539ГудковР. А.GudkovR. A.

Гудков Роман Анатольевич, к. м. н., доцент, доцент кафедры детских болезней с курсом госпитальной педиатрии,

г. Рязань.

Gudkov Roman A., PhD Med, Associate Professor at Dept of Pediatric Diseases with a Course in Hospital Pediatrics,

Ryazan.

comancherro@mail.ruhttps://orcid.org/0000-0001-5122-4723ПетроваВ. И.PetrovaV. I.

Петрова Валерия Игоревна, к. м. н., доцент, доцент кафедры детских болезней с курсом госпитальной педиатрии,

г. Рязань

Petrova Valeria I., PhD Med, Associate Professor at Dept of Pediatric Diseases with a Course in Hospital Pediatrics,

Ryazan.

gtpf17@gmail.comБоженоваЛ. В.BozhenovaL. V.

Боженова Лариса Владимировна, врач-неонатолог отделения патологии новорожденных, недоношенных и детей раннего возраста,

Рязань.

Bozhenova Larisa V., neonatologist at Dept of Pathology of Newborns, Premature Infants and Young Children,

Ryazan.

lv.bozhenova@yandex.ruФГБОУ ВО «Рязанский государственный медицинский университет имени академика И. П. Павлова» Минздрава РоссииРоссияRyazan State Medical University named after academician I.P. PavlovRussian FederationГБУ РО «Областная детская клиническая больница имени Н. В. Дмитриевой»РоссияRegional Children's Clinical Hospital named after N. V. DmitrievaRussian Federation20252605202506«Гастроэнтерология и диетология» (1)2225Copyright © Дмитриев А.В., Федина Н.В., Гудков Р.А., Петрова В.И., Боженова Л.В., 20252025Дмитриев А.В., Федина Н.В., Гудков Р.А., Петрова В.И., Боженова Л.В.Dmitriev A.V., Fedina N.V., Gudkov R.A., Petrova V.I., Bozhenova L.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/4338

Галактоземия является орфанным метаболическим заболеванием, поздняя диагностика которого может приводить к тяжелому поражению печени. Представлен клинический случай галактоземии I типа. Заболевание манифестировало в позднем неонатальном периоде рвотой, холестатическим поражением печени, коагулопатией с геморрагическим синдромом, потерей веса. Проводилась дифференциальная диагностика с некротическим энтероколитом и кишечной непроходимостью. Остаточная активность фермента GALT соответствовала биохимическому варианту и не соотносилась с тяжелой клинической картиной. На фоне кормления безлактозной смесью состояние ребенка улучшилось. Генетическое обследование выявило две патологические мутации в гетерозиготном состоянии в 3 и 6 экзоне гена GALT. Катамнестическое наблюдение показало формирование задержки статико-моторного развития у ребенка к концу первого года жизни.

Galactosemia is an orphan metabolic disease, the late diagnosis of which can lead to severe liver damage. A clinical case of galactosemia type I is presented. The disease manifested itself in the late neonatal period with vomiting, cholestatic liver damage, coagulopathy with hemorrhagic syndrome, and weight loss. A differential diagnosis was performed with necrotic enterocolitis and intestinal obstruction. The residual activity of the GALT enzyme corresponded to the biochemical variant, and did not correlate with the severe clinical picture. Against the background of lactose-free formula feeding, the child's condition improved. Genetic examination revealed two pathological mutations in the heterozygous state in exons 3 and 6 of the GALT gene. Catamnestic observation showed the formation of a delay in static-motor development in the child by the end of the first year of life.

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