Renal involvement in Fabry disease
نویسندگان
چکیده
منابع مشابه
Renal involvement in Fabry disease.
Every cell in the human body has globotriaosylceramide accumulation (Gb3) in Fabry disease due to the mutation in gene of the enzyme α-galactosidase A. It is a disease linked to sex. The main clinical features are: cutaneous angiokeratomas; acroparestesias and early strokes; decreased sweating and heat intolerance; ocular changes; myocardial hypertrophy, arrhythmias; gastrointestinal disorders ...
متن کاملEarly Renal Involvement in a Girl with Classic Fabry Disease
Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). T...
متن کاملMotor involvement in Fabry disease
We have read with great interest the article published by Wise and colleagues on the last issue of Molecular Genetics and Metabolism Reports [1]. The Authors performed a survey study investigating the prevalence of Parkinson Disease (PD) in individuals affected by Fabry Disease (FD), and found that 2 patients out of 90 (2.2%) were diagnosed with PD. Although considering all the limitations of t...
متن کاملRenal pathology in Fabry disease.
JOSEPH ALROY,* SHARDA SABNIS, and JEFFREY B. KOPP *Department of Pathology, Tufts University Schools of Veterinary Medicine and Medicine, and New England Medical Center, Boston, Massachusetts; Division of Nephrology, Armed Forces Institute of Pathology, Washington, DC; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Be...
متن کاملBone and joint involvement in Fabry disease.
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...
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ژورنال
عنوان ژورنال: Jornal Brasileiro de Nefrologia
سال: 2016
ISSN: 0101-2800
DOI: 10.5935/0101-2800.20160034