ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v15i6.1984ppharm-1682Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCASE REPORTКомплементингибирующая терапия атипичного гемолитико-уремического синдрома у пациентки с мутацией гена, кодирующего фактор НComplement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H MutationЛупанИ. Н.LupanIrina N.

Лупан Ирина Николаевна, кандидат медицинских наук, доцент кафедры педиатрии и неонатологии 

Адрес: 454092, Челябинск, ул. Воровского, д. 64, тел.: +7 (351) 774-34-55

irina.lupan@yandex.ruПищальниковА. Ю.PischalnikovAlexander Yu.

Челябинск

ЭмироваХ. М.EmirovaHadizha M.СтоляревичЕ. С.StolyarevichEkaterina S.ВолянскийА. М.VolyanskyAlexander M.ГлуховаЛ. В.GlukhovaLarisa V.

Челябинск

Институт дополнительного профессионального образования ФГБОУ ВПО «Южно-Уральский государственный медицинский университет»; Детская городская клиническая больница № 1; Челябинская областная детская клиническая больницаРоссияSouth Ural State Medical University of the Ministry of Healthcare of Russia, Institute for Continuing Professional Education; Children’s City Clinical Hospital No.1; Chelyabinsk Regional Children’s Clinical HospitalRussian FederationМосковский государственный медико-стоматологический университет имени А.И. Евдокимова; Детская городская клиническая больница Святого ВладимираРоссияA. I. Yevdokimov Moscow State University of Medicine and Dentistry; St. Vladimir Children’s City Clinical HospitalRussian FederationМосковский государственный медико-стоматологический университет имени А.И. ЕвдокимоваРоссияA. I. Yevdokimov Moscow State University of Medicine and DentistryRussian FederationЧелябинская областная детская клиническая больницаРоссияChelyabinsk Regional Children’s Clinical HospitalRussian FederationДетская городская клиническая больница № 1РоссияChildren’s City Clinical Hospital No.1Russian Federation201820022019156470478Copyright © Лупан И.Н., Пищальников А.Ю., Эмирова Х.М., Столяревич Е.С., Волянский А.М., Глухова Л.В., 20192019Лупан И.Н., Пищальников А.Ю., Эмирова Х.М., Столяревич Е.С., Волянский А.М., Глухова Л.В.Lupan I.N., Pischalnikov A.Y., Emirova H.M., Stolyarevich E.S., Volyansky A.M., Glukhova 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.pedpharma.ru/jour/article/view/1682

Атипичный гемолитико-уремический синдром (аГУС) — ультраредкая патология с развитием комплементопосредованной тромботической микроангиопатии (ТМА). До появления экулизумаба — гуманизированного моноклонального антитела класса IgG к C5-компоненту комплемента — прогноз общей и почечной выживаемости при аГУС был неблагоприятным вследствие высокой вероятности летального исхода и развития терминальной хронической почечной недостаточности у выживших пациентов. В этой статье представлено клиническое наблюдение пациентки с аГУС, у которой были идентифицированы гетерозиготная мутация гена, кодирующего фактор Н (CFH) — c.3653G>A(p.Cys1218Tyr) и два гетерозиготных варианта полиморфизма в том же гене — c.2016A>G; c.2808G>T. Несмотря на достижение гематологической ремиссии ТМА на фоне плазмотерапии, у ребенка развилась диализзависимая почечная недостаточность. Лечение экулизумабом при уже имеющемся хроническом повреждении почек обеспечило существенное улучшение их функции, поддержание стойкой ремиссии и повышение качества жизни пациентки с аГУС.

Х.М. Эмирова, Е.С. Столяревич принимают участие в образовательных мероприятиях для врачей в качестве лекторов при поддержке компании «Алексион Фарма». Другие соавторы статьи подтвердили отсутствие конфликта интересов, о котором необходимо сообщить.

Atypical haemolytic uremic syndrome (aHUS) is an extremely rare pathology with the development of complement-mediated thrombotic microangiopathy (TMA). Before eculizumab, a humanized IgG monoclonal antibody to the complement component C5, the prognosis of total and renal survival with aHUS was unfavourable due to the high probability of death and the development of end-stage chronic renal failure in surviving patients. This article presents a clinical observation of a patient with aHUS who had an identified heterozygous factor H (CFH) mutation — c.3653G>A(p.Cys1218Tyr), and two heterozygous variants of polymorphism in the same gene — c.2016A>G; c.2808G>T. Despite the achievement of haematological remission of TMA against the background of plasma therapy, the child developed dialysis-dependent renal failure. Treatment with eculizumab in a patient with chronic kidney damage provided a significant improvement in their function, maintaining a stable remission and improving the quality of life of the patient with aHUS.

Kh. М. Emirova, Е. S. Stolyarevich take part in educational events for doctors as lecturers with the support of Alexion Pharma. The other contributors confirmed the absence of a reportable conflict of interest.

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