What condition is associated with hereditary nephritis, sensorineural hearing loss, and cataracts?

Alport syndrome is the condition associated with hereditary nephritis, sensorineural hearing loss, and cataracts. This genetic disorder is primarily caused by mutations in the COL4A5 gene, which leads to abnormalities in type IV collagen, affecting the structure and function of the kidneys, inner ear, and eyes.

In Alport syndrome, individuals typically develop progressive kidney disease that can lead to end-stage renal failure. The sensorineural hearing loss usually manifests in late childhood or early adolescence due to defects in the cochlea, which is part of the inner ear. Additionally, many patients also develop distinctive ocular abnormalities, including cataracts and other retinal issues.

The combination of these three specific features—nephritis, hearing loss, and cataracts—helps to differentiate Alport syndrome from conditions like Marfan syndrome, which is primarily associated with connective tissue disorders, or Stickler syndrome, which is primarily linked with joint and facial features rather than cataracts and hearing loss as primary symptoms. Osteogenesis imperfecta primarily affects bone structure and is not characterized by these three features.

Thus, the defining triad of hereditary nephritis, sensorineural hearing loss, and cataracts strongly supports the diagnosis of Alport syndrome.