urmjУральский медицинский журналUral Medical Journal2949-4389Ural State Medical University10.52420/umj.23.3.136JCDOYUurmj-1542Research ArticleКлинические случаи | Clinical casesClinical casesСиндром Альстрёма. Описание редкого клинического случаяAlström Syndrom: A Clinical Casehttps://orcid.org/0000-0003-1083-2807ПервишкоО. В.PervishkoO. V.

Олеся Валерьевна Первишко — кандидат медицинских наук, доцент, заведующий кафедрой педиатрии № 1

Краснодар

Olesya V. Pervishko — Candidate of Sciences (Medicine), Associate Professor, Head of the Department of Pediatrics No. 1

Krasnodar

ole-pervishko@yandex.ruhttps://orcid.org/0009-0003-6939-9507ЛупашН. Г.LupashN. G.

Наталия Григорьевна Лупаш — кандидат медицинских наук, доцент кафедры педиатрии № 1

Краснодар

Natalya G. Lupash — Candidate of Sciences (Medicine), Associate Professor of the Department of Pediatrics No. 1

Krasnodar

lupashng@yandex.ruhttps://orcid.org/0000-0003-0606-5836ИваненкоА. С.IvanenkoA. S.

Алина Станиславовна Иваненко — старший лаборант кафедры педиатрии № 1

Краснодар

Alina S. Ivanenko  — Senior Laboratory Technician of the Department of Pediatrics No. 1

Krasnodar

ivanenko-a1ina@mail.ruhttps://orcid.org/0009-0000-9698-3942ЛаринаВ. Г.LarinaV. G.

Виктория Геннадьевна Ларина — ординатор кафедры педиатрии № 1

Краснодар

Victoria G. Larina — Resident of the Department of Pediatrics No. 1

Krasnodar

Victoria_larina@list.ruhttps://orcid.org/0009-0003-0023-7729ВласоваМ. Л.VlasovaM. L.

Мария Леонидовна Власова — студент педиатрического факультета

Краснодар

Maria L. Vlasova — Specialist’s Degree Student of the Faculty of Pediatrics

Krasnodar

marywin1701@gmail.comКубанский государственный медицинский университетРоссияKuban State Medical UniversityRussian Federation202412072024233136145Copyright © Первишко О.В., Лупаш Н.Г., Иваненко А.С., Ларина В.Г., Власова М.Л., 20242024Первишко О.В., Лупаш Н.Г., Иваненко А.С., Ларина В.Г., Власова М.Л.Pervishko O.V., Lupash N.G., Ivanenko A.S., Larina V.G., Vlasova M.L.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.umjusmu.ru/jour/article/view/1542Введение

Введение. Синдром Альстрёма — редкое аутосомно-рецессивное заболевание, характеризующееся полиорганной дисфункцией. Распространенность составляет менее одного человека на 1 млн. Недавнее исследование по анализу геномных мутаций выявило 109 новых, увеличив число известных мутаций белка ALMS1 до 239, что подчеркивает аллельную гетерогенность этого заболевания и его фенотипическое разнообразие.

Цель работы — повышение осведомленности медицинских работников о наследственном синдроме Альстрёма.

Материалы и методы

Материалы и методы. Проведен анализ медицинской карты амбулаторного больного (форма № 025/у), данных параклинических методов исследований пациента П. 2013 года рождения, находившегося на обследовании в Детской краевой клинической больнице (Краснодар; ДККБ) с подтвержденным синдромом Альстрёма. Результаты. Заболевание дебютировало с острой респираторной инфекции в возрасте 4 месяцев. Первичными клиническими проявлениями была острая дыхательная недостаточность, в связи с чем ребенок госпитализирован в ДККБ. Результаты дополнительных методов исследования выявили дилатационную кардиомиопатию со снижением глобальной сократимости левого желудочка, относительную митральную недостаточность, недостаточность кровообращения IIА стадии по Россу. Для дальнейшей диагностики заболевания и коррекции лечения ребенок направлен в Национальный медицинский исследовательский центр (НМИЦ) здоровья детей, где наблюдался в течение нескольких лет мультидисциплинарной бригадой специалистов. На основании проведенных молекулярно-генетических исследований (патогенная гомозиготная мутация в гене ALMS1) ребенку выставлен диагноз — синдром Альстрёма в возрасте 8 лет.

Обсуждение

Обсуждение. Представленный клинический случай демонстрирует нетипичное начало заболевания с признаками сердечно-сосудистой недостаточности, сложность диагностического поиска и отсутствие патогенетического лечения.

Заключение

Заключение. Клинический случай является примером широкого спектра фенотипических особенностей редкого наследственного синдрома Альстрёма, имеющего начало заболевания с поражения сердечно-сосудистой системы.

Background

Background. Alström syndrome is a rare autosomal recessive disease characterized by multiple organ dysfunction. The prevalence in the population is less than one person per 1 million. Genomic mutation analysis study identified 109 new mutations increasing the number of known mutations of the ALMS1 protein to 239 which highlights the allelic heterogeneity of this disease and its phenotypic diversity.

The aim of the work

The aim of the work. Increasing awareness among medical professionals regarding Alström syndrome.

Materials and methods

Materials and methods. The analysis of the medical record of an outpatient patient, data from paraclinical research methods of the child of patient P., born in 2013, who was examined at the Children’s Regional Clinical Hospital (CRCH; Krasnodar).

Results

Results. The disease debuted with an acute respiratory infection at the age of 4 months, the primary clinical manifestations were acute respiratory failure, and therefore, the child was hospitalized at CRCH. The results of additional research methods revealed dilated cardiomyopathy with reduced global contractility of the left ventricle. For further disease diagnosis and treatment correction, the child was referred to the National Medical Research Center for Children’s Health (NMRCCH), where he was observed for several years by a multidisciplinary team of specialists. Based on results of molecular genetic studies (pathogenic homozygous mutation in the ALMS1 gene), the child was diagnosed with Alström syndrome at the age of 8 years.

Discussion

Discussion. This report illustrates difficulty diagnosis and lack of specific treatment.

Conclusion

Conclusion. This clinical case demonstrates a wide range of phenotypic features of the rare hereditary Alström syndrome.

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