Fabry Nephropathy
نویسندگان
چکیده
منابع مشابه
Biomarkers of Fabry disease nephropathy.
It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions. Traditionally, globotriaosylceramide (Gb(3)) in urine has been used to evaluate the effect of specific therapy, such as enzyme replacement therapy (ERT). Although urinary Gb(3) decreases s...
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 کاملFabry nephropathy: a review – how can we optimize the management of Fabry nephropathy?
Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, epithelia...
متن کاملFabry Nephropathy : Biomarkers , Progression and Treatment Opportunities
s Nephron 2015;130:77–91 DOI: 10.1159/000431051 82 0.882–1.0; specificity 0.75–1.0; positive predictive value 0.875–1.0; negative predictive value 0.75–1.0). In Study 011, subjects with amenable mutations randomized to migalastat demonstrated statistically significant (±SEM) decreases in the number of kidney GL-3 inclusions per capillary (IPC) (–0.25±0.10) at month 6, compared to the placebo gr...
متن کاملEnzyme replacement therapy and Fabry nephropathy.
Involvement of the kidneys in Fabry disease ("nephropathy") occurs in male and female individuals. The majority of patients with progressive nephropathy will have significant proteinuria and develop progressive loss of kidney function, leading to ESRD. All too often, treating physicians may ignore "normal" serum creatinine levels or "minimal" proteinuria and fail to assess properly the severity...
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ژورنال
عنوان ژورنال: Archives of Pathology & Laboratory Medicine
سال: 2017
ISSN: 0003-9985,1543-2165
DOI: 10.5858/arpa.2016-0418-rs