A case of Alport syndrome


  • Sai Indraneel Kaluvai Department of General Medicine, Saveetha Medical College, Chennai, Tamil Nadu, India
  • Rajalakshmi K. V. Department of General Medicine, Saveetha Medical College, Chennai, Tamil Nadu, India
  • Dayanandan Y. Department of General Medicine, Saveetha Medical College, Chennai, Tamil Nadu, India




Alport syndrome, Sensorineural hearing loss, Renal failure, Ocular abnormalities


Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss and ocular abnormalities. It usually manifests as progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. The defects are caused by mutations in the genes that code for type IV collagen's alpha chains, which are the most important structural elements of basement membranes, including those in the kidney, cochlea, and eye. We present a 37-year-old female known case of chronic kidney disease on medical management came with complaints of shortness of breath and loss of appetite. Her 2 children are also affected. Her renal biopsy showed glomerulosclerosis, splitting, lamination of basement membrane. Pure tone audiometry revealed bilateral sensorineural hearing loss. Slit lamp examination showed bilateral lenticonus and distant direct ophthalmoscopy revealed oil droplet sign which confirms lenticonus with dot and fleck retinopathy. Hence diagnosed as a previously undetected case of Alport syndrome.


Oduware E, Iduoriyekemwen NJ, Ibadin M, Aikhionbare H. A Case Report of COL4A5Gene Mutation Alport Syndrome in 2 Native African Children. Case Rep Nephrol Dial. 2021;11(3):308-13.

Kruegel J, Rubel D, Gross O. Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol. 2013;9(3):170-8.

Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Engl J Med. 2003;348(25):2543-56.

Tryggvason K, Heikkila P, Pettersson E, Tibell A, Thorner P. Can Alport syndrome be treated by gene therapy? Kidney Int. 1997;51(5):1493-9.

Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004;16(2):177-81.

Haldar I, Jeloka T. Alport's Syndrome: A Rare Clinical Presentation with Crescents. Indian J Nephrol. 2020;30(2):129-31.

Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F. Alport Syndrome in Women and Girls. Clin J Am Soc Nephrol. 2016;11(9):1713-20.

Ghosh S, Singh M, Sahoo R, Rao S. Alport syndrome: a rare cause of uraemia. BMJ Case Rep. 2014;bcr2013201731.

Oni AO, Eweka AO, Otuaga PO, Odia JO. Alport's syndrome. Saudi J Kidney Dis Transpl. 2009;20(6):1087-9.

Kashtan CE, Michael AF. Alport syndrome. Kidney Int. 1996;50(5):1445-63.






Case Reports