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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Clinical manifestations of Fabry disease

Clinical manifestations of Fabry disease
Childhood
Acroparesthesia, may be severe
Telangiectasias on ears, conjunctiva
Hypohidrosis, poor exercise and heat tolerance
Nausea, diarrhea, and abdominal pain
Raynaud phenomenon
Ophthalmologic abnormalities (cornea verticillata)
Early adulthood
Extensive angiokeratomas, telangiectasias
Albuminuria, hematuria, oval fat bodies in urine
Nausea, diarrhea, and abdominal pain
Fever, heat collapse, anhidrosis
Proteinuria
Cornea verticillata, conjunctival vessel tortuosity, and lymphedema
30 to 40 years of age
Cardiac disease: Left ventricular hypertrophy, conduction and rhythm abnormalities, valvular disease, small coronary vessel disease
Kidney function impairment usually with proteinuria
Ischemic cerebrovascular stroke or TIAs
Progressive length-dependent small fiber neuropathy: Acroparesthesia, loss of cold and warm perception
Nausea, diarrhea, and abdominal pain
TIAs: transient ischemic attacks.
Adapted from: Cho ME, Kopp JB. Fabry disease in the era of enzyme replacement therapy: a renal perspective. Pediatr Nephrol 2004; 19:583.
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