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Bone and joint involvement in Fabry disease.
Sacre, K; Lidove, Olivier; Giroux Leprieur, B; Ouali, N; Laganier, J; Caillaud, C; Papo, T.
Afiliação
  • Sacre K; Department of Internal Medicine, Bichat-Claude Bernard Hospital, APHP, University Paris-7, Paris Cedex 18, France.
Scand J Rheumatol ; 39(2): 171-4, 2010 Mar.
Article em En | MEDLINE | ID: mdl-20001766
Fabry disease (FD) is an X-linked lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A. Although the disease has progressive effects on most organ systems in the body, data is limited regarding skeletal involvement in this rare disorder. We describe four family-related patients, three men and one premenopausal female, sharing a classic phenotype of FD. Dual-energy X-ray was performed in all cases and osteoporosis or osteopenia were found in all patients and osteoporotic fractures in one. One patient also showed both neuropathic joint disease and osteonecrosis. Several mechanisms that may explain osteoporosis and osteoarthropathy in the setting of FD are emphasized.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoporose / Doenças Ósseas Metabólicas / Doença de Fabry Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Scand J Rheumatol Ano de publicação: 2010 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoporose / Doenças Ósseas Metabólicas / Doença de Fabry Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Scand J Rheumatol Ano de publicação: 2010 Tipo de documento: Article País de afiliação: França