nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical University10.36485/1561-6274-2023-27-4-11-21RCEIKUnefr-2264Research ArticleОБЗОРЫ И ЛЕКЦИИREVIEWS AND LECTURESКлинические фенотипы и варианты мутаций гена ALPL у детей с гипофосфатазией, заместительная ферментная терапия препаратом Асфотаза альфа: данные литературы и клинического наблюденияClinical phenotypes and variants of mutations of the ALPL gene in children with hypophosphatasia, enzyme replacement therapy with Asfotase alfa: literature and clinical case datahttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Профессор Савенкова Надежда Дмитриевна - д-р мед. наук, кафедра факультетской педиатрии, заведующая.

94100, 194100, Санкт-Петербург, ул. Литовская, д. 2. Тел.: (812)4165286

Prof. Nadezhda D. Savenkova - MD, PhD, DMedSci, Head of the Department of Faculty Pediatrics.

194100, Saint-Petersburg, Litovskaya str., 2. Phone: (812)4165286

Savenkova.n.spb@mail.ruhttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliZh. G.

Профессор Левиашвили Жанна Гавриловна, доктор медицинских наук, кафедра факультетской педиатрии, профессор.

194100, Санкт-Петербург, ул. Литовская, д. 2. Тел.: (812)4165266

Prof. Leviashvili Zhanna G. - MD, PhD, DMedSci, Department of Faculty Pediatrics, prof.

194100, Saint-Petersburg, Litovskaya str., 2. Phone:(812)4165266

Jannalevi@gmail.comhttps://orcid.org/0000-0001-5412-1594БарсуковаВ. Н.BarsukovaV. N.

Барсукова Вера Николаевна - нефрологическое отделение клиники университета, врач-педиатр-нефролог педиатрического отделения №1.

194100, Санкт-Петербург, ул. Литовская, д. 2. Тел.: (812)4165301

Vera N. Barsukova - MD Nephrology of the University Clinic–pediatrician, nephrologists.

194100, Saint-Petersburg, Litovskaya str., 2. Phone:(812)4165266

barsukova-med@yandex.ruСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation2023011220232741121Copyright © Савенкова Н.Д., Левиашвили Ж.Г., Барсукова В.Н., 20232023Савенкова Н.Д., Левиашвили Ж.Г., Барсукова В.Н.Savenkova N.D., Leviashvili Z.G., Barsukova V.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/2264

В статье представлены современные данные литературы о клинических фенотипах и вариантах мутаций гена ALPL, эффективности заместительной ферментной терапии асфотазой альфа у детей с гипофосфатазией (ГФФ). ГФФ–орфанная наследственная болезнь (ORPHA 436). В каталоге OMIM представлены следующие формы ГФФ: перинатальная (летальная), инфантильная; гипофосфатазия детского возраста; гипофосфатазия у взрослых; одонтогипофосфатазия. M.E. Nunes (2023) рассматривает 7 форм ГФФ с учетом возраста и тяжести клинической манифестации. В результате международных молекулярно-генетических исследований получена фундаментальная информация о фенотипических особенностях манифестации и тяжести ГФФ у педиатрических пациентов в зависимости от вариантов мутаций гена ALPL. Молекулярно-генетическая диагностика и заместительная ферментная терапия асфотазой альфа в нашей стране гарантированы детям с ГФФ за счет средств Фонда «Круг Добра», учредитель фонда – Министерство здравоохранения Российской Федерации. В статье приведено клиническое наблюдение пробанда с гипофосфатазией, получающего асфотазу альфа.

The article presents current literature data on clinical phenotypes and variants of ALPL gene mutations, the effectiveness of enzyme replacement therapy with asfotase alfa in children with hypophosphatasia (HPP). HPP is inherited disease ORPHA (436). The OMIM catalog contains forms of HPP: perinatal (lethal), infantile; hypophosphatasia of childhood; hypophosphatasia in adults; odontohypophosphatasia. M.E. Nunes (2023) considers 7 forms of HPP, taking into account the age and severity of the clinical manifestation. As a result of worldwide molecular genetic studies, fundamental information has been obtained on the phenotypic features of the manifestation and severity of HFF in pediatric patients, depending on the variants of the ALPL gene mutations. Molecular genetics diagnosis and enzyme replacement therapy with Asfotase alfa in our country are guaranteed for children with HPP at the expense of the «Krug Dobra Foundation», the founder of the foundation is the Ministry of Health of the Russian Federation. The article presents a clinical observation of a proband with hypophosphatasia receiving Asfotase alfa.

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