The diagnosis and management of mucopolysaccharidosis type II.
Enzyme replacement therapy
Gene therapy
Glycosaminoglycans
Hematopoietic stem cell transplantation
Mucopolysaccharidosis type II
Substrate reduction therapy
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
08 Oct 2024
08 Oct 2024
Historique:
received:
10
01
2024
accepted:
22
09
2024
medline:
9
10
2024
pubmed:
9
10
2024
entrez:
8
10
2024
Statut:
epublish
Résumé
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive inherited lysosomal storage disease. With pathogenic variants of the IDS gene, the activity of iduronate-2-sulfatase (IDS) is reduced or lost, causing the inability to degrade glycosaminoglycans (GAGs) in cells and influencing cell function, eventually resulting in multisystemic manifestations, such as a coarse face, dysostosis multiplex, recurrent respiratory tract infections, and hernias. Diagnosing MPS II requires a combination of clinical manifestations, imaging examinations, urinary GAGs screening, enzyme activity, and genetic testing. Currently, symptomatic treatment is the main therapeutic approach. Owing to economic and drug availability issues, only a minority of patients opt for enzyme replacement therapy or hematopoietic stem cell transplantation. The limited awareness of the disease, the lack of widespread detection technology, and uneven economic development contribute to the high rates of misdiagnosis and missed diagnosis in China.
Identifiants
pubmed: 39380047
doi: 10.1186/s13052-024-01769-9
pii: 10.1186/s13052-024-01769-9
doi:
Substances chimiques
Iduronate Sulfatase
EC 3.1.6.13
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
207Subventions
Organisme : Key R & D Projects of Zhejiang Provincial Science and Technology Agency
ID : 2021C03094
Organisme : National Health Commission of the People's Republic of China
ID : National Health Commission of the People's Republic of China
Informations de copyright
© 2024. The Author(s).
Références
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