FP1634 : Case Report of Rare Genetic Disorder – Alport Syndrome

Dr. Vinod Barde, B18780, Dr. Neetu Kori, Dr. Dinesh Agrawal, Dr. Yogesh Kumar Sharma

Introduction:-Alport syndrome is a rare genetic condition characterized by progressive kidney disease, hearing loss, and eye abnormalities. The prevalence of Alport disease is 1 in 50,000 and its incidence rate is higher among males than females. It is caused by mutations that affect the type IV collagen proteins.

Methodology :– A 22 year female was admitted in medicine department with complaints of weakness vomiting , edema in limbs, and diminished of vision in both eye. The Department Of Medicine was sent patient to O.P.D for find out cause of diminished vision.
Conclusion :- A rare case of Alport Syndrome presenting with kidney disease microscopic blood in the urine (hematuria), protein in the urine (proteinuria), high blood pressure (hypertension) ,high blood sugar ( diabetes mellitus) ,hyperparathyroidism,sensorineural hearing loss,and anterior lenticonus eye abnormalities.

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