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., ...Daha Fazla

EXPERIMENTAL AND CLINICAL TRANSPLANTATION, cilt.18, sa.4, ss.444-449, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 4
  • Basım Tarihi: 2020
  • Doi Numarası: 10.6002/ect.2019.0279
  • Dergi Adı: EXPERIMENTAL AND CLINICAL TRANSPLANTATION
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.444-449
  • Anahtar Kelimeler: Family screening, Genetic analysis, Renal transplant recipient, ALPHA-GALACTOSIDASE, ENZYMATIC DIAGNOSIS, PREVALENCE, NEPHROPATHY, DIALYSIS, MANAGEMENT, MUTATIONS, PLASMA, D313Y
  • Ankara Üniversitesi Adresli: Evet

Özet

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.