منابع مشابه
Pediatric Fabry disease.
BACKGROUND Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder. OBJECTIVES To test the hypothesis that quality of life and sweating are decreased among pediatric patients with Fabry disease, compared with control subjects, and to provide quantitative natural history data and novel clinical end points for therapeutic trials. DESIGN Prospective, cross-sectional, obse...
متن کاملFabry disease
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteris...
متن کاملFabry disease.
More than a hundred years ago, in 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, independently reported on patients with multiple angiokeratomas as well as some other symptoms. Today, the disease is called Anderson-Fabry or only Fabry disease, or angiokeratoma corporis diffusum, the latter being more often found in dermatologic literature. Fabry disease is ...
متن کاملNephropathy in Fabry disease and iatrogenic phospholipidosis mimicking Fabry disease
Fabry disease is a rare X-linked inborn error of the glycosphingolipid metabolism caused by deficient activity of lysosomal enzyme alpha-galactosidase A. It is characterized by progressive multisystemic involvement that leads to premature death due to major organ failure, particularly the kidneys and heart. It appears that the disease is underdiagnosed in patients with end-stage renal disease. ...
متن کاملMeasuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)
INTRODUCTION Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists. METHODS A preliminary 40-item measure of symptoms and experience with FD, the Fabry-specific Paediatric Health and Pain Questionnaire (FPHPQ) was develo...
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ژورنال
عنوان ژورنال: PEDIATRICS
سال: 2005
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2004-1678