How Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease?
https://doi.org/10.15690/vsp.v17i6.1978
Abstract
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.
Keywords
Supporting agencies: Not specified.
About the Authors
Natalia V. Buchinskaya
St. Petersburg State Pediatric Medical University
Diagnostic Centre (Medical Genetic)
Russian Federation
Disclosure of interest:
Russian Federation
Disclosure of interest:
The other contributors confirmed the absence of a reportable conflict of interest.
Mikhail M. Kostik
St. Petersburg State Pediatric Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Disclosure of interest:
receiving fees for lecturing from Pfizer, AbbVie, Novartis, Sanofi.
Oksana L. Kolobova
St. Petersburg State Pediatric Medical University
Russian Federation
Disclosure of interest: The other contributors confirmed the absence of a reportable conflict of interest.
Russian Federation
Disclosure of interest: The other contributors confirmed the absence of a reportable conflict of interest.
Larisa N. Melnikova
St. Petersburg State Pediatric Medical University
Russian Federation
Disclosure of interest: The other contributors confirmed the absence of a reportable conflict of interest.
Russian Federation
Disclosure of interest: The other contributors confirmed the absence of a reportable conflict of interest.
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For citations:
Buchinskaya N.V., Kostik M.M., Kolobova O.L., Melnikova L.N. How Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease? Current Pediatrics. 2018;17(6):473-479. (In Russ.) https://doi.org/10.15690/vsp.v17i6.1978
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