ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v13i6.1665ppharm-1476Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИ ПО ДИАГНОСТИКЕ И ЛЕЧЕНИЮ ГИПОФОСФАТАЗИИ У ДЕТЕЙCLINICAL RECOMMENDATION TO THE DIAGNOSTICS AND TREATMENT OF HYPOPHOSPHATASIA IN CHILDRENhttps://orcid.org/0000-0003-3987-8112БарановА. А.BaranovA. A.

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaL. S.СавостьяновК. В.SavostianovК. V.

Москва

Moscow

https://orcid.org/0000-0002-2395-1322МаргиеваТ. В.MargievaТ. V.

Маргиева Теа Валикоевна - кандидат медицинских наук, заведующая отделением восстановительного лечения детей с нефро-урологическими заболеваниями, ожирением и метаболическими болезнями НЦЗД.

119991, Москва, Ломоносовский проспект, дом 2, тел.: +7 (499) 132-28-80

Moscow

https://orcid.org/0000-0001-7398-0562ВишнёваЕ. А.VishnevaE. A.

Москва

Moscow

ЯхяеваГ. Т.YakhyaevaG. Т.

Москва

Moscow

Научный центр здоровья детей; Первый Московский государственный медицинский университет имени И.М. СеченоваРоссияScientific Center of Children’s Health; Russian Federation N.I. Pirogov Russian National Research Medical UniversityRussian FederationНаучный центр здоровья детей; Первый Московский государственный медицинский университет имени И.М. Сеченова; Российский национальный исследовательский медицинский университет имени Н.И. ПироговаРоссияScientific Center of Children’s Health; Russian Federation N.I. Pirogov Russian National Research Medical University; I.M. Sechenov First Moscow State Medical UniversityRussian FederationНаучный центр здоровья детейРоссияScientific Center of Children’s HealthRussian Federation201615022017136539543Copyright © Баранов А.А., Намазова-Баранова Л.С., Савостьянов К.В., Маргиева Т.В., Вишнёва Е.А., Яхяева Г.Т., 20172017Баранов А.А., Намазова-Баранова Л.С., Савостьянов К.В., Маргиева Т.В., Вишнёва Е.А., Яхяева Г.Т.Baranov A.A., Namazova-Baranova L.S., Savostianov К.V., Margieva Т.V., Vishneva E.A., Yakhyaeva G.Т.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/1476

Hypophosphatasia is a rare genetic disorder caused by deficiency of tissue-specific  alkaline phosphatase as a result of mutations in the ALPL gene. Depending on the form and severity of the disease, pathology may spawn in utero, in childhood or in adult age. Given functions of alkaline phosphatase, patients experience multisystem disorders: primarily changes in bone (osteoporosis, rachitic deformations,  fractures),  lung  disease  (hypoplasia  with respiratory  failure)  and  central  nervous  system  (seizures),  hypercalcemia with development of nephrocalcinosis. Without timely treatment, the disease may be harmful to life in most cases. Patients required observation of a multidisciplinary team of physicians. The only effective treatment is enzyme replacement therapy with asfotase alpha. It is also necessary to carry out symptomatic treatment and rehabilitation of patients with the use of physiotherapy and therapeutic physical training complexes of exercises.

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