Fabry disease: a case report
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چکیده
منابع مشابه
Y Fabry disease . A case report
Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme α-galactosidase A (α-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991. This 46 year-old male was referred for dermatologic evaluation of a purpura on his abdomen. He was being treated for proteinuria and cardiac symptoms. The diagnosis o...
متن کاملNeurological manifestation of Fabry disease--a case report.
Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme alpha-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including endothelial cells, pericytes and smooth muscle cells of blood vessels, renal epithelial cells, cardiac myocytes and numerous neuronal cells. In this ...
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Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvemen...
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We present a 22-year-old male patient who showed both classical Fabry disease and IgA nephropathy. He had proteinuria (1.5 g/day), hypohidrosis and neuralgia with fever. Serum creatinine and blood urea nitrogen were 0.9 mg/dL and 11.4 mg/dL, respectively. Renal biopsy showed strikingly vacuolated podocytes and tubular epithelium cells. Myelin-like bodies were detected in podocytes, mesangial ce...
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Introduction: Castleman's disease is a rare lymphoproliferative disorder which may be confused with other causes of lymphadenopathy. Case Report: Here we report a case of unicentric Castleman's disease presenting with cervical lymphadenopathy. The patient was treated with complete surgical excision of lesion and was disease free at the time of reporting this article. This case has been reported...
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ژورنال
عنوان ژورنال: BIRDEM Medical Journal
سال: 2021
ISSN: 2305-3720,2305-3712
DOI: 10.3329/birdem.v11i2.53138