vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v17i6.1978vsp-1979Research ArticleВ ПОМОЩЬ ВРАЧУA DOCTOR’S AIDКак не пропустить мягкие формы мукополисахаридоза I типа у пациентов с суставными проявлениями заболевания?How Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease?https://orcid.org/0000-0002-2335-3023БучинскаяН. В.BuchinskayaNatalia V.https://orcid.org/0000-0002-1180-8086КостикМ. М.KostikMikhail M.

доктор медицинских наук, доцент, заведующий кафедрой госпитальной педиатрии

194100, Санкт-Петербург, ул. Литовская, д. 2

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kost-mikhail@yandex.ruhttps://orcid.org/0000-0002-6980-8046КолобоваО. Л.KolobovaOksana L.https://orcid.org/0000-0002-6437-2546МельниковаЛ. Н.MelnikovaLarisa N.Санкт-Петербургский государственный педиатрический медицинский университет Диагностический центр (медико-генетический)РоссияSt. Petersburg State Pediatric Medical University Diagnostic Centre (Medical Genetic)Russian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation201831012019176473479Copyright © Бучинская Н.В., Костик М.М., Колобова О.Л., Мельникова Л.Н., 20192019Бучинская Н.В., Костик М.М., Колобова О.Л., Мельникова Л.Н.Buchinskaya N.V., Kostik M.M., Kolobova O.L., Melnikova L.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/1979

Мукополисахаридоз I типа (МПС I) — наследственная болезнь обмена, проявляющаяся в детском возрасте системным поражением тканей и органов, постоянно прогрессирующим течением, приводящим к инвалидизации. Диагностика мягких форм заболевания особенно затруднительна по причине отсутствия специфических симптомов. Характерным симптомом мягких форм МПС I (как и для других типов МПС) является тугоподвижность суставов у детей в сочетании с грыжей, частыми инфекциями или поражениями клапанов сердца. Часто тугоподвижность при МПС I трактуется как проявление ревматологических заболеваний (артрогриппоз, ювенильный идиопатический артрит). В статье предложен простой алгоритм диагностики МПС I, помогающий исключить заболевание с помощью простого теста на определение активности фермента -L-идуронидазы в сухой капле крови.

Mucopolysaccharidosis type I (MPS I) is a hereditary metabolic disease that manifests itself in childhood by systemic damage to tissues and organs, a constantly progressive course leading to disability. Diagnosis of mild forms of the disease is particularly difficult due to the absence of specific symptoms. A specific symptom of the mild forms of MPS I (as for other types of MPS) is joint stiffness in children combined with hernia, frequent infections, or valvular defects. Stiffness in MPS I is often interpreted as a manifestation of rheumatological diseases (arthrogriposis, juvenile idiopathic arthritis). The article offers a simple algorithm for diagnosing MPS I, which helps to eliminate the disease using a simple test for determining the activity of an enzyme called alpha-L-iduronidase in a dried blood spot.

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