Pathology vs. molecular genetics: (Re)defining the spectrum of Alport syndrome

Research output: Contribution to journalComment/debate

18 Scopus citations

Abstract

Malone et al. performed next-generation sequencing on 70 families with focal segmental glomerulosclerosis (FSGS) and discovered that 10% had variants in surprising 'old' genes, COL4A3 and COL4A4, which are involved in Alport syndrome and thin basement membrane nephropathy. These data show that a subset of renal manifestations associated with COL4A3 or COL4A4 variants cannot be distinguished from FSGS by clinical data or histopathology. Thus, a diagnosis of FSGS may sometimes fall within the spectrum of Alport syndrome.

Original languageEnglish
Pages (from-to)1081-1083
Number of pages3
JournalKidney International
Volume86
Issue number6
DOIs
StatePublished - Jan 1 2014

Keywords

  • Alport syndrome
  • FSGS
  • Genetics
  • Glomerular disease

Fingerprint Dive into the research topics of 'Pathology vs. molecular genetics: (Re)defining the spectrum of Alport syndrome'. Together they form a unique fingerprint.

  • Cite this