Fabry disease screening in kidney transplant patients: A single-center study in Türkiye

Abstract

Aims:This study aimed to screen for Fabry disease in adult kidney transplant patients at a nephrology clinic in Türkiye.Methods:This cross-sectional, single-center study prospectively enrolled kidney transplant recipients regardless of the etiology of renal failure. α-galactosidase A (α-GLA) enzyme activity and α-GLA gene analysis were used to screen for Fabry disease. The screening was initiated by measuring enzyme activity in males, and those with T (p. D313Y) mutation was detected in the gene analysis of a 29-year-old female patient. However, systemic evaluation did not reveal any clinical findings consistent with Fabry disease. Screening tests were within normal limits in other patients. Although there were abnormal screening findings in 2 patients, none was diagnosed with Fabry disease.Conclusions:Screening studies for Fabry disease in kidney transplant patients may contribute to the determination of the true prevalence.

Keywords

• kidney transplant patients
• fabry disease
• screening