How Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease?
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 s...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2019-01-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1979 |
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| Summary: | 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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| ISSN: | 1682-5527 1682-5535 |