grekovВестник хирургии имени И.И. ГрековаGrekov's Bulletin of Surgery0042-46252686-7370Federal State Budgetary Educational Institution of Higher Education «Academician I.P. Pavlov First St. Petersburg State Medical University» of the Ministry of Healthcare of the Russion Federation, FSBEI HE I.P.Pavlov SPbSMU MOH Russia10.24884/0042-4625-2020-179-4-91-97grekov-1497Research ArticleХИРУРГИЯ ДЕТСКОГО ВОЗРАСТАSURGERY IN CHILDRENВрожденный синдром короткой тонкой кишки: клиническое наблюдение и обзор литературыCongenital short bowel syndrome: a case report and review of the literaturehttps://orcid.org/0000-0002-8563-6002ДьяконоваЕ. Ю.DyakonovaE. Yu.

Дьяконова Елена Юрьевна - доктор медицинских наук, главный врач НИИ педиатрии.

Dyakonova Elena YU. - Dr. of Sci. (Med.), Head Physician of the Research Institute of Pediatrics.

Moscow

https://orcid.org/0000-0002-0462-596XГурскаяА. С.GurskayaA. S.

Гурская Александра Сергеевна, кандидат медицинских наук, заведующий хирургическим отделением новорожденных и детей грудного возраста.

Gurskaya Alexandra S. - Oand. of Sci. (Med.), Head of the Department of Surgery for Newborns and Infants.

https://orcid.org/0000-0002-5320-837XНаковкинО. Н.NakovkinO. N.

Наковкин Олег Николаевич - заведующий отделением реанимации и интенсивной терапии новорожденных и детей грудного возраста.

Nakovkin Oleg N. - Head of the Intensive Care Unit for Newborns and Infants.

Moscow

https://orcid.org/0000-0003-4657-7879КазаковаК. А.KazakovaK. A.

Казакова Клавдия Александровна - кандидат медицинских наук, заведующий отделением патологии раннего детского возраста.

Kazakova Klavdiyia A. - Oand. of Sci. (Med.), Head of the Department of Pathology of Early Childhood.

Moscow

https://orcid.org/0000-0003-1718-8292ВаричкинаМ. А.VarichkinaM. A.

Варичкина Мария Александровна - врач-педиатр отделения патологии раннего детского возраста.

Varichkina Mariya A. - Pediatrician of the Department of Pathology of Early Childhood.

Moscow

ЖурковаН. В.ZhurkovaN. V.

Журкова Наталья Вячеславовна - кандидат медицинских наук, ведущий научный сотрудник Лаборатории молекулярной генетики и медицинской геномики.

Zhurkova Natalia V. - Oand. of Sci. (Med.), Leading Research Fellow of the Laboratory of Molecular Genetics and Medical Genomics.

https://orcid.org/0000-0002-2809-1894БаязитовР. Р.BaiazitovR. R.

Баязитов Римир Радикович - детский хирург хирургического отделения новорожденных и детей грудного возраста.

 

Baiazitov Rimir R. - Pediatric Surgeon of the Department of Surgery for Newborns and Infants.

2, Lomonosovskii pr., Moscow, 119296

krasik17@yandex.ruhttps://orcid.org/0000-0002-0902-7205АхмедоваД. М.AkhmedovaD. M.

Ахмедова Динара Магадовна - неонатолог хирургического отделения новорожденных и детей грудного возраста.

Akhmedova Dinara M. - Neonatologist of the Department of Surgery for Newborns and Infants.

Moscow

https://orcid.org/0000-0001-7316-4880ТарзянА. О.TarzianA. O.

Тарзян Арам Оганесович - кандидат медицинских наук, младший научный сотрудник Лаборатории разработки новых методов хирургического лечения новорожденных.

Tarzian Aram O. - Oand. of Sci. (Med.), Junior Research Fellow of the Laboratory for the Development of New Methods of Surgical Treatment of Newborns.

Moscow

https://orcid.org/0000-0001-6892-6860ЩукинаА. А.ShchukinaA. A.

Щукина Анна Александровна - аспирант, детский хирург.

Shchukina Anna A., Postgraduate Student, Pediatric Surgeon.

Moscow

Федеральное государственное автономное учреждение «Национальный медицинский исследовательский центр здоровья детей» Министерства здравоохранения Российской ФедерацииРоссияNational Medical Research Center for Children’s HealthRussian Federation20200811202017949197Copyright © Дьяконова Е.Ю., Гурская А.С., Наковкин О.Н., Казакова К.А., Варичкина М.А., Журкова Н.В., Баязитов Р.Р., Ахмедова Д.М., Тарзян А.О., Щукина А.А., 20202020Дьяконова Е.Ю., Гурская А.С., Наковкин О.Н., Казакова К.А., Варичкина М.А., Журкова Н.В., Баязитов Р.Р., Ахмедова Д.М., Тарзян А.О., Щукина А.А.Dyakonova E.Y., Gurskaya A.S., Nakovkin O.N., Kazakova K.A., Varichkina M.A., Zhurkova N.V., Baiazitov R.R., Akhmedova D.M., Tarzian A.O., Shchukina A.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.vestnik-grekova.ru/jour/article/view/1497

Врожденный синдром короткой тонкой кишки (ВСКТК) является редким наследственным заболеванием с высокой летальностью. В данной статье впервые в русскоязычной литературе сообщается о лечении новорождённой девочки с генетически подтвержденным врожденным синдромом короткой тонкой кишки, а также приводится обзор литературы по этому синдрому. После рождения у ребенка отмечалась частая рвота желчью с прогрессирующим снижением массы тела. На операции по поводу врожденного спаечного процесса между петлями тонкой кишки с выраженными нарушениями эвакуаторной функции выявлено, что длина тонкой кишки составляла всего около 50 см. Диагноз подтвержден генетически, путем прямого секвенирования гена CLMP. Положительный результат в послеоперационном периоде достигнут с использованием протокола по ведению пациентов с синдромом короткой кишки. В настоящее время девочке 11 месяцев, масса тела - 9 кг, развитие гармоничное. Долгосрочная выживаемость детей с ВСКТК теперь возможна, если парентеральное питание проводится на ранних стадиях заболевания, что способствует адаптации кишечника, с последующим прекращением парентерального питания.

Congenital short bowel syndrome is a rare condition of the newborn, with several reports demonstrating high mortality. For the first time in Russia, we report a case of treatment of a newborn girl with genetically confirmed congenital short bowel syndrome, and also provide a review of the literature on this syndrome. After birth, the child experienced constant vomiting of bile with a progressive decrease in body weight. The laparotomy for congenital adhesions between the loops of the small intestine with severe violations of the evacuation function revealed that the small bowel was 50 cm in length, confirming the diagnosis of congenital short bowel syndrome. The genetic test, using whole exome sequencing, identified a homozygous mutation in the CLMP gene in this patient. A positive result in the postoperative period was achieved using the protocol for the management of patients with short bowel syndrome. Currently, the girl is 11 months old, body weight is 9 kg, development is harmonious. Long-term survival of children with congenital short bowel syndrome is now possible if enteral feeds are introduced early to promote intestinal adaptation, with subsequent weaning off parenteral nutrition.

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