problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl2017633195-200problendo-8607Research ArticleКлинические случаиCase ReportsСемейный случай врожденного гиперинсулинизма, ассоциированного с мутацией в гене GLUD1Familial case of congenital hyperinsulinism associated with mutation in the GLUD1 genehttps://orcid.org/0000-0002-1491-2460МеликянМария АрменаковнаMelikyanMaria A.

к.м.н.

MD, PhD

melikian.maria@gmail.comhttps://orcid.org/0000-0001-8500-4841ТюльпаковАнатолий НиколаевичTiulpakovAnatoly N.

д.м.н., профессор

MD, PhD, Professor

anatolytiulpakov@gmail.comhttps://orcid.org/0000-0003-1320-6561КареваМария АндреевнаKarevaMaria A.

к.м.н.

MD, PhD

i_marusya@mail.ru<p>ФГБУ &laquo;Эндокринологический научный центр&raquo; Минздрава России</p>Россия<p>Endocrinology Research Centre</p>Russian Federation201715062017633195200Copyright &#x00A9; Меликян М.А., Тюльпаков А.Н., Карева М.А., 20172017Меликян М.А., Тюльпаков А.Н., Карева М.А.Melikyan M.A., Tiulpakov A.N., Kareva M.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/8607

Врожденный гиперинсулинизм (ВГИ) является редким наследственным заболеванием, характеризующимся развитием гипогликемий у детей 1-го года жизни. Поздняя диагностика и неадекватно проводимая терапия могут приводить к развитию тяжелых неврологических осложнений. Одной из причин ВГИ являются мутации в гене GLUD1, кодирующем фермент глутаматдегидрогеназу. Данная форма ВГИ характеризуется наличием у пациентов протеининдуцированных гиперинсулинемических гипогликемий и гипераммониемии. Постановка диагноза может быть затруднительной в связи с отсутствием характерной гиперинсулинемической гипогликемии при пробе c голоданием. Для уточнения диагноза необходимо расширенное обследование, включающее пробу с нагрузкой белком. Нами описан семейный случай, где у матери и двух дочерей был диагностирован ВГИ и выявлена мутация в каталитическом домене гена GLUD1. Представлена клиническая картина, лабораторные данные, а также результаты терапии и динамического наблюдения за пациентками.

Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by hypoglycemia in children during the first year of life. Late diagnosis and inadequate therapy may result in severe neurological complications. Mutations in the GLUD1 gene that encodes glutamate dehydrogenase are one of the causes of CHI. This form of CHI is characterized by protein-induced hyperinsulinemic hypoglycemia and hyperammonemia in patients. Diagnosing can be challenging because hyperinsulinemic hypoglycemia cannot be detected using the conventional fasting glucose test. Extensive examination including the protein load test is needed to refine diagnosis. We report a familial case where the mother and two daughters were diagnosed with CHI and had a mutation in the catalytic domain of the GLUD1 gene. The clinical presentation, the laboratory data, the outcome of therapy, and the dynamic follow up data for the patients are presented.

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