[Alport syndrome. Report of two cases]

Rev Med Chil. 2019 Apr;147(4):522-526. doi: 10.4067/S0034-98872019000400522.
[Article in Spanish]

Abstract

Alport syndrome is an inherited progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. We report two men with Alport syndrome. Both had chronic kidney disease and consulted for long-term loss of visual acuity. One had auditory abnormalities. On the ophthalmological examination, both had anterior lenticonus and one had dot or fleck retinopathy. Those findings are described in up to 50% and 70% of men with X-linked Alport syndrome, respectively. Both patients had a family history of Alport syndrome or suggestive signs and symptoms.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Eye Diseases / diagnosis
  • Eye Diseases / pathology*
  • Eye Diseases / physiopathology
  • Hearing Loss, Sensorineural
  • Humans
  • Male
  • Nephritis, Hereditary / diagnosis
  • Nephritis, Hereditary / pathology*
  • Nephritis, Hereditary / physiopathology
  • Retina / pathology
  • Tomography, Optical Coherence
  • Tonometry, Ocular
  • Visual Acuity