perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2018-63-2-73-78perinatology-649Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESХлоридная диарея у ребенка 8 мес жизниChloride diarrhea in a child 8 months oldЗахароваИ. Н.ZakharovaI. N.

д.м.н., проф., зав. кафедрой педиатрии

МайковаИ. Д.MaykovaI. D.

к.м.н., зам. гл. врача по медицинской части

КузнецоваО. А.KuznetsovaO. A.

зав. 1-м педиатрическим отделением

ГончароваЛ. В.GoncharovaL. V.

врач-педиатр 1-го педиатрического отделения

ХолодоваИ. Н.KholodovaI. N.

д.м.н., проф. кафедры педиатрии

ЗайденваргГ. Е.ZaydenvargG. E.

к.м.н., доцент кафедры педиатрии

ДмитриеваЮ. А.DmitriyevaYu. A.

к.м.н., доцент кафедры педиатрии

БорзаковаС. Н.BorzakovaS. N.

к.м.н., ассистент кафедры педиатрии с инфекционными болезнями у детей

РадченкоЕ. В.RadchenkoE. V.

врач-гастроэнтеролог 1-го педиатрического отделения

ВоробьеваА. С.VorobyovaA. S.

врач-педиатр 1-го педиатрического отделения

ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава России, МоскваРоссияRussian Medical Academy of Continuous Vocational Education of the Ministry of Health of Russia, MoscowRussian FederationДетская городская клиническая больница им. З.А. Башляевой Департамента здравоохранения г. МосквыРоссияBashlyayeva Children’s City Clinical Hospital of the Department of Public Health of MoscowRussian FederationФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова», МоскваРоссияPirogov Russian National Research Medical University, Ministry of Health of the Russian Federation, MoscowRussian Federation2018270420186327378Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20182018Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/649

Хлоридная диарея – редкое генетически детерминированное заболевание, обусловленное мутациями гена SLC26A3 и характеризующееся появлением стойкой водянистой диареи с первых дней жизни ребенка. Заболевание сопровождается развитием гипокалиемического гипохлоремического алкалоза. Особенности клинической картины и метаболических нарушений при врожденной хлоридной диарее определяют необходимость проведения дифференциальной диагностики с широким спектром патологических состояний, что часто приводит к поздней постановке диагноза и увеличивает риск развития осложнений. В статье представлен клинический разбор пациента с врожденной хлоридной диареей, определены критерии диагностики заболевания, рассмотрены возможные ошибки в процессе диагностического поиска, описана тактика ведения ребенка.

 

Chloride diarrhea is a rare genetically determined disease caused by mutations of the SLC26A3 gene and characterized by the appearance of persistent watery diarrhea from the first days of the child’s life. The disease is accompanied by the development of hypokalemic hypochloraemic alkalosis. Features of the clinical aspects and metabolic disorders in congenital chloride diarrhea determine the need for differential diagnosis with a wide range of pathological conditions, which often leads to late diagnosis and increases the risk of complications. The article presents the clinical analysis of a patient with congenital chloride diarrhea, the criteria for diagnosing the disease, the possible errors in the diagnostic search process, describes the tactics of the child’s management.

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