1. Mucopolysaccharidoses : quand y penser ?
- Author
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G. Touati, Thierry Levade, Francis Gaches, F. Catros, Nadia Belmatoug, Martin Michaud, and S. Ancellin
- Subjects
0301 basic medicine ,Pathology ,medicine.medical_specialty ,business.industry ,Urinary system ,Mucopolysaccharidosis ,Gastroenterology ,Hepatosplenomegaly ,medicine.disease ,Short stature ,03 medical and health sciences ,Facial dysmorphism ,030104 developmental biology ,0302 clinical medicine ,medicine.anatomical_structure ,In utero ,Internal Medicine ,medicine ,Carpal tunnel ,medicine.symptom ,Inflammatory Rheumatism ,business ,030217 neurology & neurosurgery - Abstract
Mucopolysaccharidosis are lysosomal storage diseases, secondary to the accumulation of mucopolysaccharides. Type 1 mucopolysaccharidosis is the most common form and affects between 0.69 and 1.66 newborns per 100,000. The severity of mucopolysaccharidosis is variable with lethal forms in utero and attenuated forms diagnosed in adults. The most common symptoms are short stature, facial dysmorphism, chronic articular pains that can mimic chronic inflammatory rheumatism, axial and peripheral bone involvement, hepatosplenomegaly and an early carpal tunnel. Depending on the type of mucopolysaccharidosis, corneal, cerebral or cardiac involvements are possible. Screening is based on the analysis of urinary glycosaminoglycans. The deficient enzyme assay and the gene analysis confirm the diagnosis. Mucopolysaccharidosis recognition is important for patient management and family screening. In addition, specific enzyme replacement therapy exists for certain types of mucopolysaccharidosis. Role of clinician is important to evoke and diagnose mucopolysaccharidosis.
- Published
- 2020
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