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Pregled bibliografske jedinice broj: 262436

Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb


Barišić, Ingeborg; Tokić, Višnja; Petković, Giorgie; Fumić, Ksenija
Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb // 6th International Symposium on Lysosomal Storage Diseases - poster abstracts
Stockholm, Švedska: TKT Europe AB, Rinkebyvagen 11B, SE-182 36 Danderyd, Sweden, 2006. (poster, međunarodna recenzija, sažetak, stručni)


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Naslov
Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb

Autori
Barišić, Ingeborg ; Tokić, Višnja ; Petković, Giorgie ; Fumić, Ksenija

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
6th International Symposium on Lysosomal Storage Diseases - poster abstracts / - Stockholm, Švedska : TKT Europe AB, Rinkebyvagen 11B, SE-182 36 Danderyd, Sweden, 2006

Skup
6th International Symposium on Lysosomal Storage Diseases

Mjesto i datum
Stockholm, Švedska, 28.04.2006. - 29.04.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
lysosomal storage disease; mucopolysaccharidosis II; clinical presentation; management

Sažetak
Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive disorder due to the deficiency of the lysosome enzyme iduronate sulfatase (IDS). This results in the lysosomal accumulation of dermatan and heparan sulfate causing progressive dysfunction of many tissues and organs. Aim: to present clinical phenotype, natural course and management of our patients with MPS II. Patients/Methods: During the last ten years we have diagnosed three patients with MPS II. The diagnosis was made based on clinical criteria, abnormal urinary glycosaminoglycan excretion, deficient serum and/or fibroblast IDS activity, and molecular testing. Results: All patients presented with the severe form of the disease. The delay between symptom onset and first visit to a physician was 21 months, 6 months, and 6 weeks and the gap between the first visit to diagnosis was 5 years, 3 years and 2.5 years respectively. Multidisciplinary approach in the management of MPS II patients was adopted, integrating all aspects of their care, but the results are so far limited. Conclusions: there is a significant gap between early symptoms and diagnosis of MPS II in Croatia. An increased awareness of MPS II among the medical communitiy should help to reduce the diagnostic delay in these patietns. This is particularly important having in view the prospect of enzyme replacement therapy for this disorder.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
0072165

Ustanove:
Klinika za dječje bolesti Medicinskog fakulteta


Citiraj ovu publikaciju:

Barišić, Ingeborg; Tokić, Višnja; Petković, Giorgie; Fumić, Ksenija
Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb // 6th International Symposium on Lysosomal Storage Diseases - poster abstracts
Stockholm, Švedska: TKT Europe AB, Rinkebyvagen 11B, SE-182 36 Danderyd, Sweden, 2006. (poster, međunarodna recenzija, sažetak, stručni)
Barišić, I., Tokić, V., Petković, G. & Fumić, K. (2006) Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb. U: 6th International Symposium on Lysosomal Storage Diseases - poster abstracts.
@article{article, author = {Bari\v{s}i\'{c}, Ingeborg and Toki\'{c}, Vi\v{s}nja and Petkovi\'{c}, Giorgie and Fumi\'{c}, Ksenija}, year = {2006}, pages = {92}, keywords = {lysosomal storage disease, mucopolysaccharidosis II, clinical presentation, management}, title = {Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb}, keyword = {lysosomal storage disease, mucopolysaccharidosis II, clinical presentation, management}, publisher = {TKT Europe AB, Rinkebyvagen 11B, SE-182 36 Danderyd, Sweden}, publisherplace = {Stockholm, \v{S}vedska} }
@article{article, author = {Bari\v{s}i\'{c}, Ingeborg and Toki\'{c}, Vi\v{s}nja and Petkovi\'{c}, Giorgie and Fumi\'{c}, Ksenija}, year = {2006}, pages = {92}, keywords = {lysosomal storage disease, mucopolysaccharidosis II, clinical presentation, management}, title = {Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb}, keyword = {lysosomal storage disease, mucopolysaccharidosis II, clinical presentation, management}, publisher = {TKT Europe AB, Rinkebyvagen 11B, SE-182 36 Danderyd, Sweden}, publisherplace = {Stockholm, \v{S}vedska} }




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