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


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Oruç A., Yıldız A., Akgür S., Aydin M. F., Ersoy A., Yavuz M., ...More

TURKISH JOURNAL OF NEPHROLOGY, vol.30, no.2, pp.165-170, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 2
  • Publication Date: 2021
  • Doi Number: 10.5152/turkjnephrol.2021.4709
  • Journal Name: TURKISH JOURNAL OF NEPHROLOGY
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.165-170
  • Bursa Uludag University Affiliated: Yes

Abstract

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.