Your browser doesn't support javascript.
loading
Musculoskeletal manifestations of lysosomal storage disorders.
Aldenhoven, M; Sakkers, R J B; Boelens, J; de Koning, T J; Wulffraat, N M.
Afiliación
  • Aldenhoven M; Department of Paediatric Immunology/Haematology and SCT, University Medical Centre Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands. m.aldenhoven@umcutrecht.nl
Ann Rheum Dis ; 68(11): 1659-65, 2009 Nov.
Article en En | MEDLINE | ID: mdl-19822711
Lysosomal storage disorders (LSDs), a heterogeneous group of inborn metabolic disorders, are far more common than most doctors presume. Although patients with a severe LSD subtype are often readily diagnosed, the more attenuated subtypes are frequently missed or diagnosis is significantly delayed. The presenting manifestations often involve the bones and/or joints and therefore these patients are frequently under specialist care by (paediatric) rheumatologists, receiving inadequate treatment. Since effective disease-specific treatments, including enzyme replacement therapy and stem cell transplantation, have become available for certain LSDs and timely initiation of these treatments is necessary to prevent the development of severe, disabling and irreversible manifestations, early diagnosis has become essential. The challenge is to raise awareness for better recognition of the presenting signs and symptoms of LSDs by all doctors who may encounter these patients, including rheumatologists.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedades Musculoesqueléticas Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans Idioma: En Revista: Ann Rheum Dis Año: 2009 Tipo del documento: Article País de afiliación: Países Bajos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades por Almacenamiento Lisosomal / Enfermedades Musculoesqueléticas Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans Idioma: En Revista: Ann Rheum Dis Año: 2009 Tipo del documento: Article País de afiliación: Países Bajos