RT info:eu-repo/semantics/article
T1 Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort
A1 Gónzalez-Meneses, Antonio
A1 Pineda, Mercè
A1 Bandeira, Anabela
A1 Janeiro, Patrícia
A1 Ruiz, María Ángeles
A1 Diogo, Luisa
K1 Mucopolysaccharidosis, Sly syndrome, Rare disease, MPS VII
AB Background: Mucopolysaccharidosis type VII (Sly syndrome) is an ultra-rare neurometabolic disorder caused by inherited defciency of the lysosomal enzyme β-glucuronidase. Precise data regarding its epidemiology are scarce, but birth prevalence is estimated to vary from 0.02 to 0.24 per 100,000 live births. The clinical course and disease progression are widely heterogeneous, but most patients have been reported to show signs such as skeletal deformities or cognitive delay. Additionally, detection criteria are not standardized, resulting in delayed diagnosis and treatment.Methods: We present a cohort of 9 patients with mucopolysaccharidosis VII diagnosed in the Iberian Peninsula, either in Spain or Portugal. The diagnostic approach, genetic studies, clinical features, evolution and treatment interventions were reviewed.Results: We found that skeletal deformities, hip dysplasia, hydrops fetalis, hepatosplenomegaly, hernias, coarse features, respiratory issues, and cognitive and growth delay were the most common features identifed in the cohort. In general, patients with early diagnostic confrmation who received the appropriate treatment in a timely manner presented a more favorable clinical evolution.Conclusions: This case series report helps to improve understanding of this ultra-rare disease and allows to establish criteria for clinical suspicion or diagnosis, recommendations, and future directions for better management of patients with Sly syndrome.
PB BMC
YR 2021
FD 2021
LK https://uvadoc.uva.es/handle/10324/64719
UL https://uvadoc.uva.es/handle/10324/64719
LA spa
NO Orphanet Journal of Rare Diseases. 2021;16 (1):445
DS UVaDOC
RD 17-jul-2024