Open AccessHow Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease?
Author(s) -
Н. В. Бучинская,
М. М. Костик,
О. Л. Колобова,
L N Mel'nikova
Publication year - 2019
Publication title -
voprosy sovremennoj pediatrii
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.12
H-Index - 5
eISSN - 1682-5535
pISSN - 1682-5527
DOI - 10.15690/vsp.v17i6.1978
Subject(s) - medicine , mucopolysaccharidosis , disease , mucopolysaccharidosis i , arthritis , mucopolysaccharidosis type i , enzyme replacement therapy , pediatrics , immunology , pathology
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.