Alport syndrome
Pronunciation: AL-port SIN-drome
An inherited kidney disorder affecting collagen IV, causing progressive nephritis, hearing loss, and eye abnormalities.
Full Definition
Alport syndrome is a hereditary nephritis caused by mutations in genes encoding type IV collagen (COL4A3, COL4A4, or COL4A5), which is essential for kidney, ear, and eye function. The condition is characterized by progressive kidney disease leading to end-stage renal disease, sensorineural hearing loss, and ocular abnormalities including anterior lenticonus. In pediatric nephrology, Alport syndrome typically presents with persistent microscopic hematuria in early childhood, with males more severely affected in the X-linked form. The diagnosis is confirmed through genetic testing, kidney biopsy showing characteristic electron microscopy findings, or family history analysis.
Usage
Usage note: Always specify inheritance pattern (X-linked, autosomal recessive, or autosomal dominant) when known.
In Context
- "The boy with persistent hematuria was diagnosed with X-linked Alport syndrome following genetic testing." — Genetics consultation report
- "Audiometry revealed bilateral sensorineural hearing loss consistent with Alport syndrome." — Multidisciplinary clinic note