In patients with Alport’s syndrome (hereditary nephritis), which of the following statements is true?
ExplanationAnti-GBM antibodies may develop due to normal type IV collagen subunits expressed on the donor kidney. Female carriers of X-linked disease may be symptomatic, although milder than males, due to random inactivation of the X chromosome. Deafness may occur due to the presence of abnormal cochlear type IV collagen. Some patients with type IV collagen mutations develop subtle abnormalities manifested clinically by haematuria only (thin basement membrane disease). Alport’s syndrome is usually X-linked (COL4A5 mutations) but autosomal recessive and dominant disease may occur (COL4A3 and COL4A4 mutations).
