Screening for Fabry Disease in Patients Who Underwent Renal Biopsy and Identification of a Novel Mutation

ORUÇ A., YILDIZ A., AKGÜR S., ÜNSAL O., AYDIN M. F., ERSOY A., ...Daha Fazla

Turkish journal of nephrology, cilt.30, sa.2, ss.165-170, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 2
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5152/turkjnephrol.2021.4709
  • Dergi Adı: Turkish journal of nephrology
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.165-170
  • Anahtar Kelimeler: alpha-Galactosidase, Fabry disease, Fabry nephropathy, renal biopsy, ENZYME REPLACEMENT THERAPY, CHRONIC KIDNEY-DISEASE, AGALSIDASE ALPHA, NATURAL-HISTORY, PATHOLOGY, DIALYSIS, NEPHROPATHY, DIAGNOSIS, PROTEINURIA, PREVALENCE
  • Gazi Üniversitesi Adresli: Hayır

Özet

Background: The X-linked Fabry disease (FD) with lysosomal storage of globotriaosylceramide (Gb3) due to alpha-galactosidase deficiency contributes to nephropathy consisting of proteinuria and renal failure eventually. Early initiation of the enzyme replacement therapy promises favorable renal outcomes. With the importance of early diagnosis, we screened FD among proteinuric patients in whom biopsy findings revealed Fabry nephropathy.