Kidney variant of Fabry disease

What is the kidney variant of Fabry disease?

The screening of patients undergoing hemodialysis by determining their plasma α-Gal A activity revealed that about 0.04% to 1.7% of males had unrecognized Fabry disease. Most of these males lacked the acroparesthesias, angiokeratomas, hypohidrosis, and corneal opacities that typically brought Type 1 Classically affected males to medical attention. In contrast, 41% of the hemodialysis patients had the Type 2 Later-Onset phenotype with GLA missense or alternative splicing mutations both encoding residual α-Gal A activity. These Type 2 Later-Onset males presented with kidney manifestations as early as the third or fourth decades of life. They were originally called “Kidney Variants,” but they also may have cardiac involvement, typically left ventricular hypertrophy. These patients are now more correctly designated as having the Type 2 Later-Onset phenotype.

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