Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey

---

Copy For Citation

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 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 18 Issue: 4
• Publication Date: 2020
• Doi Number: 10.6002/ect.2019.0279
• Journal Name: EXPERIMENTAL AND CLINICAL TRANSPLANTATION
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
• Page Numbers: pp.444-449
• Keywords: Family screening, Genetic analysis, Renal transplant recipient, ALPHA-GALACTOSIDASE, ENZYMATIC DIAGNOSIS, PREVALENCE, NEPHROPATHY, DIALYSIS, MANAGEMENT, MUTATIONS, PLASMA, D313Y
• Ankara University Affiliated: Yes

Abstract

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.