ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v20i4.2601ppharm-2343Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSСовременные подходы к ведению детей с гипофосфатазиейModern Approaches to the Management of Children with Hypophosphatasiahttps://orcid.org/0000-0003-3987-8112БарановА. А.BaranovAleksander A.

Москва

Moscow

https://orcid.org/0000-0003-0928-2131БатышеваТ. Т.BatyshevaTatiana T.

Москва

Moscow

https://orcid.org/0000-0001-6576-1765БыковаО. В.BykovaOlga V.

Москва

Moscow

https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

https://orcid.org/0000-0002-0791-4302ВислобоковаЕ. В.VislobokovaElena V.

Москва

Moscow

https://orcid.org/0000-0001-5689-0194ВитебскаяА. В.VitebskayaAlisa V.

Москва

Moscow

https://orcid.org/0000-0001-7398-0562ВишневаЕ. А.VishnevaElena A.

Москва

Moscow

https://orcid.org/0000-0001-8491-0228ВоиноваВ. Ю.VoynovaVictoria Yu.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Москва

Moscow

https://orcid.org/0000-0002-5020-1180ЗахароваЕ. Ю.ZakharovaEkaterina Yu.

Москва

Moscow

https://orcid.org/0000-0003-2095-9473КисельниковаЛ. П.Kisel'nikovaLarisa P.

Москва

Moscow

https://orcid.org/0000-0002-1180-8086КостикМ. М.KostikMikhail M.

Санкт-Петербург

Saint-Petersburg

https://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevSergey I.

Москва

Moscow

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

Москва

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Намазова-Баранова Лейла Сеймуровна - доктор медицинских наук, профессор, академик РАН, заведующая кафедрой факультетской педиатрии педиатрического факультета ФГБОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России; руководитель НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского», президент Союза педиатров России.

119333, Москва, ул. Фотиевой, д. 10

тел.: +7 (499) 400-47-33

Moscow

lsnamazova@yandex.ruhttps://orcid.org/0000-0002-2115-985XМихайловаС. В.MikhaylovaSvetlana V.

Москва

Moscow

https://orcid.org/0000-0002-7232-4640МоисеевС. В.MoiseevSergey V.

Москва

Moscow

https://orcid.org/0000-0003-4527-4518НагорноваТ. С.NagornayaTatyana S.

Москва

Moscow

https://orcid.org/0000-0002-3678-7939СелимзяноваЛ. Р.SelimzyanovaLiliia R.

Москва

Moscow

https://orcid.org/0000-0002-4026-3791СемячкинаА. Н.SemyachkinaAlla N.

Москва

Moscow

https://orcid.org/0000-0002-3720-8046СмирноваО. Я.SmirnovaOlga Ya.

Москва

Moscow

https://orcid.org/0000-0003-0797-5612ФедосеенкоМ. В.FedoseenkoMarina V.

Москва

Moscow

ПищальниковаС. В.Pishchal'nikovaSvetlana V.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical UniversityRussian FederationНПЦ детской психоневрологии ДЗМ; ФНМО МИ РУДНРоссияScientific and Practical Center for Pediatric Psychoneurology of Moscow Health Department; Russian People's Friendship UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationМГМСУ им. А.И. ЕвдокимоваРоссияMoscow State University of Medicine and Dentistry named after A.I. EvdokimovRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияSechenov First Moscow State Medical UniversityRussian FederationРНИМУ им. Н.И. Пирогова; НИКИ педиатрии им. акад. Ю.Е. ВельтищеваРоссияPirogov Russian National Research Medical University; Veltischev Research and Clinical Institute for PediatricsRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryRussian FederationМГНЦ им. акад. Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationСПбГПМУ; НМИЦ им. В.А. АлмазоваРоссияSaint-Petersburg State Pediatric Medical University; Almazov National Medical Research CentreRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский Университет); НИКИ детстваРоссияSechenov First Moscow State Medical University; Research and Clinical Institute for ChildrenRussian FederationРНИМУ им. Н.И. Пирогова; РДКБРоссияMoscow State University of Medicine and Dentistry named after A.I. Evdokimov; Russian Children's Clinical HospitalRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет); РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical UniversityRussian FederationМосковский НИИ педиатрии и детской хирургии им. акад. Ю.Е. ВельтищеваРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric SurgeryRussian FederationВсероссийское общество орфанных заболеванийРоссияAll-Russian Society of Orphan DiseasesRussian Federation202322082023204318336Copyright © Баранов А.А., Батышева Т.Т., Быкова О.В., Вашакмадзе Н.Д., Вислобокова Е.В., Витебская А.В., Вишнева Е.А., Воинова В.Ю., Журкова Н.В., Захарова Е.Ю., Кисельникова Л.П., Костик М.М., Куцев С.И., Маргиева Т.В., Намазова-Баранова Л.С., Михайлова С.В., Моисеев С.В., Нагорнова Т.С., Селимзянова Л.Р., Семячкина А.Н., Смирнова О.Я., Федосеенко М.В., Пищальникова С.В., 20232023Баранов А.А., Батышева Т.Т., Быкова О.В., Вашакмадзе Н.Д., Вислобокова Е.В., Витебская А.В., Вишнева Е.А., Воинова В.Ю., Журкова Н.В., Захарова Е.Ю., Кисельникова Л.П., Костик М.М., Куцев С.И., Маргиева Т.В., Намазова-Баранова Л.С., Михайлова С.В., Моисеев С.В., Нагорнова Т.С., Селимзянова Л.Р., Семячкина А.Н., Смирнова О.Я., Федосеенко М.В., Пищальникова С.В.Baranov A.A., Batysheva T.T., Bykova O.V., Vashakmadze N.D., Vislobokova E.V., Vitebskaya A.V., Vishneva E.A., Voynova V.Y., Zhurkova N.V., Zakharova E.Y., Kisel'nikova L.P., Kostik M.M., Kutsev S.I., Margieva T.V., Namazova-Baranova L.S., Mikhaylova S.V., Moiseev S.V., Nagornaya T.S., Selimzyanova L.R., Semyachkina A.N., Smirnova O.Y., Fedoseenko M.V., Pishchal'nikova S.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/2343

Гипофосфатазия — редкое генетическое заболевание, обусловленное дефицитом тканенеспецифической щелочной фосфатазы в результате мутации в гене ALPL. В зависимости от формы и тяжести болезнь может дебютировать внутриутробно, в детском возрасте или у взрослых. В статье представлены современные сведения об эпидемиологии, этиологии и клинических проявлениях гипофосфатазии у детей, подробно освещаются этапы дифференциально-диагностического поиска, приведены рекомендации по лечению, основанные на принципах доказательной медицины. При отсутствии своевременного лечения прогноз болезни в большинстве случаев неблагоприятный для жизни. Пациенты нуждаются в наблюдении мультидисциплинарной командой врачей. Единственным эффективным методом лечения является ферментозаместительная терапия асфотазой альфа; необходимо также проводить симптоматическую терапию, а при реабилитации пациентов использовать физиотерапевтические процедуры и лечебные физкультурные комплексы упражнений.

Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents modern data on the epidemiology, etiology, and clinical signs of hypophosphatasia in children, covers in details differential diagnostic search, and gives guidelines for its evidence-based treatment. Without timely treatment the prognosis of the disease is unfavorable in most cases. Such patients require follow-up by multidisciplinary team of physicians. The only effective method of treatment is enzyme replacement therapy with asfotase alfa. Symptomatic therapy is also crucial as well as physiotherapeutic procedures and therapeutic exercise programs (at rehabilitation stage).

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