Hereditary nephritis

Hereditary nephritis (Alport syndrome, AS) is a hereditary glomerular basement membrane disease mainly presenting as hematuria, progressive renal decline, sensorineural deafness and ocular abnormalities, caused by mutation of the gene encoding type IV collagen, the main GBM collagen; mutation rate about 1/10000 to 1/5000. By inheritance: ① X-linked dominant (XL, about 80%), gene on X chromosome. ② Autosomal recessive (AR, about 15%). ③ Autosomal dominant (AD, rare). Caused by COL4A5/COL4A6, COL4A3/COL4A4 mutations.

Common Symptoms

Hearing defect; hematuria; proteinuria

Causes

The six alpha chains of type IV collagen form three-stranded helical monomers that polymerize into dimers/tetramers and a collagen network. X-linked Alport mutations mainly affect COL4A5 (alpha5 chain); autosomal recessive Alport mutations affect COL4A3/COL4A4 on chromosome 2 (alpha3/alpha4 chains).

Treatment

Medication, supportive treatment

Prevention

Avoid infection, fatigue and pregnancy, and avoid nephrotoxic drugs to prevent the disease.

Recommended Department

It is recommended to visit the nephrology department; before the visit you may first book an appointment and connect with experts through this platform.

Warm reminder: The above information is provided for health education reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek care at a regular hospital in time.