Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019

Journal of Nephrology
Ivana CapuanoAntonio Pisani

Abstract

Fabry disease (FD) is a rare X-linked genetic disorder of glycosphingolipid catabolism caused by mutations in the GLA gene. Its heterogeneous presentation, the paucity of specific early markers, and the absence of a genotype-phenotype correlation are associated with a delayed or missed diagnosis. The true prevalence of FD remains so far unknown. A systematic search of FD screening studies in dialysis patients published from January 1995 until January 2019 was performed to reanalyze the prevalence of GLA mutations in this population after assigning their correct phenotype. Twenty five screening studies involving 39,621 dialysis patients were included. Of them, 116 [91 males (0.23%) and 25 females (0.06%)] were positive to the GLA sequencing analysis. 56 (48.2%) had benign variant, 52 (44.8%) a pathogenic GLA mutation (39 classic and 13 late onset mutations) and 8 (6.9%) a mutation of uncertain significance. The overall prevalence of GLA variants was 0.24% [CI 95%, 0.17-0.32] while the overall prevalence recalculated on basis of only pathogenetic mutations was 0.14% [CI 95%, 0.08-0.20]. This difference was significant (P = 0.048). Although the real prevalence of classic FD is low, the screening in the high-risk renal population r...Continue Reading

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Jul 2, 2020·Therapeutics and Clinical Risk Management·Irfan VardarliFrank Weidemann
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Related Concepts

Fabry Disease
Biological Markers
Dialysis Procedure
Glycosphingolipids
Hereditary Diseases
Catabolism
Analysis
Population Group
GLA gene
Screening Generic

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