Thelansis

 Alport syndrome, a genetic condition, presents with kidney disease, hearing loss, and eye abnormalities. It arises from mutations in three genes: COL4A3, COL4A4, or COL4A5, each responsible for a component of type IV collagen crucial in kidney glomeruli. In 80% of cases, it follows an X-linked pattern due to COL4A5 mutations, though other inheritance patterns exist. X-linked Alport syndrome manifests as: 1.        Juvenile form: Renal insufficiency appears between ages 20 and 30 2.        Adult form: Renal insufficiency occurs after 30 About 50% of males in the X-linked form require dialysis or kidney transplantation by 30, and 90% develop ESRD before 40. Females have a 12% ESRD risk by age 40, increasing to 30% by age 60. Proteinuria and hearing loss in females elevate ESRD risk. Differential diagnoses include Immunoglobulin A nephropathy, Thin GBM disease, Acute post-streptococcal glomerulonephritis, Medullary cystic disease, Multicystic renal dysplasia, and Polycystic kidney