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


Erdogmus S., KUTLAY S., Kumru G., Sendogan D. O. , ERTÜRK Ş., KEVEN K., ...More

Experimental and Clinical Transplantation, vol.18, no.4, pp.444-449, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.6002/ect.2019.0279
  • Title of Journal : Experimental and Clinical Transplantation
  • Page Numbers: pp.444-449
  • Keywords: Family screening, Genetic analysis, Renal transplant recipient, ALPHA-GALACTOSIDASE, ENZYMATIC DIAGNOSIS, PREVALENCE, NEPHROPATHY, DIALYSIS, MANAGEMENT, MUTATIONS, PLASMA, D313Y

Abstract

© Başkent University 2020 Printed in Turkey. All Rights Reserved.Objectives: Fabry disease is a rare X-linked multisystemic lysosomal storage disorder of the glycosphingolipid metabolic pathway. Nephropathy is one of the most important complications of Fabry disease, and patients with classical phenotype are at risk of developing end-stage kidney disease. In this study, we investigated the use of screening for Fabry disease in kidney transplant recipients at our center. Materials and Methods: We screened 301 kidney transplant recipients with functioning grafts. Analyses for α-galactosidase A gene mutation were performed in all female and male kidney transplant recipients. We also measured leukocyte α-galactosidase A enzyme activity in patients with identified GLA mutation. Results: In 301 kidney transplant recipients, mean age was 42.9 ± 12.5 years, and the number of male patients was 180 (60%). Mean time after transplant was 79 ± 56 months, and estimated glomerular filtration rate was 66.8 ± 21 mL/min/1.73 m2. One male patient who was diagnosed with Fabry disease before kidney transplant was also evaluated (mutation in the α-galactosidase A gene, c.1093_1101dup [p.Tyr365_lle367dup]). In 2 female patients, p.A143T (c.427G>A) mutation of unknown significance and p.D313Y (c.937G>T) heter-ozygous mutation were identified; however, leukocyte α-galactosidase A enzyme activity was normal in these patients (63.7 and 67.3 nmol/h/mg protein). In the patient diagnosed with Fabry disease, family screening revealed 4 additional affected family members. Discussions: Although prevalence was shown to be low in our center (1/301 patients; 0.33%), screening studies in kidney transplant recipients may help to detect new patients before they develop life-threatening complications such as renal involvement.