[Rapidly progressive Alport syndrome in a young woman: case report]

G Ital Nefrol. 2022 Feb 16;39(1):2022-vol1.
[Article in Italian]

Abstract

Alport syndrome is a hereditary clinical condition characterized by multisystemic changes (sensorineural and ocular deafness) associated with hematuria and proteinuria. Due to its genetic variability and multiple symptoms, it is often diagnosed by chance and too late. The present work focuses on this pathology through a clinical case report. It also mentions the new therapeutic possibilities relating to this disease.

Keywords: Alport syndrome; clinical case; kidney damage; novel therapies.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Hematuria / etiology
  • Humans
  • Nephritis, Hereditary* / complications
  • Nephritis, Hereditary* / diagnosis
  • Nephritis, Hereditary* / genetics
  • Proteinuria / etiology