منابع مشابه
Nephropathy 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 کاملBiomarkers 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 کاملThe coincidence of IgA nephropathy and Fabry disease
BACKGROUND IgA nephropathy (IgAN) is the most common glomerulonephritis, which may also coexist with other diseases. We present two patients with an unusual coincidence of IgAN and Fabry disease (FD). CASE PRESENTATION A 26 year-old man underwent a renal biopsy in February 2001. Histopathology showed very advanced IgAN and vascular changes as a result of hypertension. Because of his progressi...
متن کاملHemizygous Fabry disease associated with IgA nephropathy: a case report.
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...
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...
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ژورنال
عنوان ژورنال: Pathology
سال: 2021
ISSN: 0031-3025
DOI: 10.1016/j.pathol.2021.06.035