SUN-007 MONOCLONAL GAMMOPATHY OF RENAL SIGNIFICANCE AND MONOCLONAL IMMUNOGLOBULIN RENAL DAMAGE IN MALIGNANT B-CELL DISORDERS: REAL CLINICAL PRACTICE – WHAT IS BEYOND MONOCLONAL IMMUNOGLOBULIN AMYLOIDOSIS?

摘要

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency or absence of the enzyme alpha-galac- tosidase A (4-galA). This defect leads to the systemic accumulation of complex glycosphingolipids, mainly globotriaosylceramide (Gb3) and its metabolites. Two subtypes have been described; the type I “classic” and the type II “late-onset” phenotypes. Children with classic phenotype manifest neuropathic pain in hands and feet, gastrointestinal disorders, angiokeratomas, dyshidrosis and cornea verticillata. These are followed by progressive renal insufficiency, arrhythmias with progressive hypertrophic cardiomyopathy, and cerebrovascular disease. Late-onset phenotype presents with cardiac and/or renal disease, lacking the classical early-onset manifestations. Specifically, renal involvement manifests with albuminuria, protein- uria and progressive renal failure. The evolution of Fabry nephrop- athy is similar to diabetic nephropathy, where glomerular hyperfiltration (GHF) is the first step, and contributes to the presence of proteinuria and progressive renal function loss. Surprisingly, although GHF has been reported in several clinical studies, its prev- alence is currently unknown in FD. The aim of this study was to describe the prevalence of GHF in a population of FD patients and its association with different clinical variables.