Fabry disease in the optics of the nephrologist
DOI:
https://doi.org/10.18041/2665-427X/ijeph.2.9880Keywords:
Fabry Disease, Proteinuria, Kidney Disease, SphingolipidosesAbstract
Fabry disease is an inherited disorder of progressive and multisystemic lysosomal deposition of glycosphingolipid catabolism, linked to the X chromosome, causing intracellular deposition of glycosphingolipids, especially globotriaosyl-ceramide (Gb-3), mainly at the level of the vascular endothelium, but also it can deposit you in other tissues. Its clinical and laboratory manifestations depend on the affected organ, mainly the kidney, heart, nervous system, gastrointestinal tract and skin, although it can involve any organ or system. Renal involvement is the first sign of target organ damage in most patients with the classic presentation, manifesting with progressive proteinuria and associated decreased renal function. The Fabry diagnosis can be delayed up to 10 years or more, from the clinical appearance of the disease and is carried out by measuring the activity of the enzyme alpha-galactosidase, mainly in men and requires a genetic study in women. Renal biopsy is a complementary diagnostic test, when the kidney is affected. Enzyme replacement therapy or the use of chaperones are the options for pharmacological management, they are chosen according to the patient's profile and the associated mutations.
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