vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v25i2.3035vsp-3985Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSДифференциальная диагностика мягкой формы мукополисахаридоза I типа (синдрома Шейе) и ювенильной системной склеродермии (клиническое наблюдение)Differential Diagnosis of Mild Form of Mucopolysaccharidosis Type I (Scheie Syndrome) and Juvenile Systemic Scleroderma (Case Study)https://orcid.org/0000-0002-7498-1636ПодчерняеваН. С.PodchernyaevaNadezhda S.

Подчерняева Надежда Степановна, доктор медицинских наук, профессор, профессор кафедры детских болезней Клинического института детского здоровья им. Н.Ф. Филатова 

119991, Москва, ул. Трубецкая, д. 8, стр. 2,  тел.: +7 (916) 327-27-20

Moscow

n-cherny2011@mail.ruhttps://orcid.org/0009-0003-3021-3832ЗубареваТ. В.ZubarevaTatyana V.

Москва

Moscow

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

Москва

Moscow

https://orcid.org/0000-0003-3537-5390ОсмининаМ. К.OsmininaMariya K.

Москва

Moscow

https://orcid.org/0009-0006-7961-7004БатыреваО. В.BatyrevaOksana V.

Москва

Moscow

https://orcid.org/0009-0005-8467-2254КарамурзинаА. К.KaramurzinaAngela K.

Москва

Moscow

https://orcid.org/0000-0002-2835-2839ЖолобоваЕ. С.ZholobovaElena S.

Москва

Moscow

Первый Московский государственный медицинский университет им. И.М. Сеченова (Сеченовский Университет)РоссияSechenov First Moscow State Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Российский национальный исследовательский медицинский университет им. Н.И. Пирогова (Пироговский Университет)РоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian Federation20262605202625267–77Copyright © Подчерняева Н.С., Зубарева Т.В., Вашакмадзе Н.Д., Осминина М.К., Батырева О.В., Карамурзина А.К., Жолобова Е.С., 20262026Подчерняева Н.С., Зубарева Т.В., Вашакмадзе Н.Д., Осминина М.К., Батырева О.В., Карамурзина А.К., Жолобова Е.С.Podchernyaeva N.S., Zubareva T.V., Vashakmadze N.D., Osminina M.K., Batyreva O.V., Karamurzina A.K., Zholobova E.S.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/3985Обоснование

Обоснование. Для мягких форм мукополисахаридоза I типа (МПС I) — синдромов Гурлер – Шейе и Шейе — характерны позднее появление и неспецифичность симптомов. В частности, доминирующее в клинической картине поражение суставов может послужить причиной ошибочного первоначального диагноза ревматического заболевания. Описание клинического случая. У девочки С. в возрасте 4 лет 8 мес впервые заметили ограничение движений в суставах кистей. В возрасте 5 лет 1 мес был выявлен симметричный полиартрит с поражением крупных и мелких суставов верхних и нижних конечностей с контрактурами, антинуклеарный фактор в титре 1 : 160, диагностирован ювенильный идиопатический артрит. В возрасте 5 лет 2 мес кроме полиартрита отметили уплотнение и снижение эластичности кожи кистей, предплечий, стоп и голеней, ограничение открывания рта, выявили поражение желудочно-кишечного тракта (недостаточность кардии, гастроэзофагеальный рефлюкс), что определило диагноз лимитированной формы ювенильной системной склеродермии. На фоне противоревматической терапии (метилпреднизолон, метотрексат) отмечено уменьшение плотности кожи, увеличение амплитуды движений в суставах. Особенности клиники и течения заставили продолжить диагностический поиск. Выполнена энзимодиагностика, выявлено снижение активности альфа-идуронидазы до 0,06 мкмоль/л (норма 1,00–25,00 мкмоль/л), проведено количественное измерение гликозаминогликанов (ГАГ) в моче, общая концентрация ГАГ — 20,0 мг/ммоль креатинина (возрастная норма 0,8–24,9 мг/ммоль креатинина). Методом одномерного электрофореза ГАГ выявлена повышенная экскреция гепарансульфата и дерматансульфата с мочой. Методом прямого автоматического секвенирования проведен анализ экзонов 2 и 7 гена IDUA: обнаружены патогенный вариант с.208С>Т (pGin70Term), полученный от отца, и изменение нуклеотидной последовательности с.878_889dup, приводящее к замене p.Thr293_Tyr2, полученное от матери, в компаунд-гетерозиготном состоянии. Установлен диагноз: «МПС I, синдром Шейе».

Заключение

Заключение. При проведении дифференциальной диагностики у пациентов с особенными суставными изменениями педиатрам и детским ревматологам следует в протоколы обследования включать молекулярно-генетические методы для своевременного выявления наследственных заболеваний, и в частности мягких форм МПС I.

Background

Background. Mild forms of mucopolysaccharidosis type I (MPS I), Hurler – Scheie and Scheie syndromes, are characterized by late onset and non-specific symptoms. Particularly, the clinically dominant joint may lead to misdiagnosis of rheumatic disease. Case description. Girl S., at the age of 4 years 8 months, has shown limitation in hands' joints movements. Later at the age of 5 years and 1 month symmetrical polyarthritis with damage of large and small joints of upper and lower limbs with contractures was revealed; antinuclear factor was 1 : 160; and juvenile idiopathic arthritis was diagnosed. Then at the age of 5 years 2 months diagnosis has changed to limited form of juvenile systemic scleroderma due to additional symptoms onset: induration and elasticity decrease of hands, forearms, feet and lower legs skin, restriction of mouth opening, gastrointestinal tract lesions (cardia insufficiency, gastroesophageal reflux). Management with antirheumatic therapy (methylprednisolone, methotrexate) resulted in decreased skin density and increased amplitude of joints movements. Clinical features and disease course forced us to continue the diagnostic search. Enzyme diagnostics was performed: decrease in alpha-iduronidase activity to 0.06 μmol/L (normal range 1.00–25.00 μmol/L) was revealed. Quantitative analysis of glycosaminoglycans (GAG) in urine was performed: total GAG level was 20.0 mg/mmol creatinine (age limit 0.8–24.9 mg/mmol creatinine). One-dimensional GAG electrophoresis has revealed increased heparan sulfate and dermatan sulfate urinary excretion. Direct automatic sequencing of exons 2 and 7 of the IDUA gene revealed pathogenic variant c.208C>T (pGin70Term), from the father, and change in the nucleotide sequence c.878_889dup leading to the replacement of p.Thr293_Tyr2, from mother, in compound heterozygous state. The diagnosis of “MPS I, Sheie syndrome” was established.

Conclusion

Conclusion. Pediatricians and pediatric rheumatologists should include molecular genetic methods in the examination protocols for the timely detection of hereditary diseases, particularly mild forms of MPS I, when conducting differential diagnosis in patients with specific articular changes.

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