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Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey
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 endstage kidney disease. In this...
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Published in: | Experimental and clinical transplantation 2020-08, Vol.18 (4), p.444-449 |
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Main Authors: | , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | 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 endstage
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. |
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ISSN: | 1304-0855 2146-8427 |
DOI: | 10.6002/ect.2019.0279 |