A man 25 yrs old presents with renal failure u- uncle died of renal failure 3 yrs ago. On slit 1 examination, keratoconus is present

AIpo's syndrome A number of uncommon diseases may involve the glomerulus in childhood but the most impoant one affecting adults is Alpo's syndrome. Most cases arise from a mutation or deletion of the COL4A5 gene on the X chromosome, which encodes type IV collagen, resulting in inheritance as an X-linked recessive disorder (p. 48). Mutations in COL4A3 or COL4A4 genes are less common and cause autosomal recessive disease. The accumulation of abnormal collagen results in a progressive degeneration of the GBM (Fig. 15.14). Affected patients progress from haematuria to ESRD in their late teens or twenties. Female carriers of COL4A5 mutations usually have haematuria but less commonly develop significant renal disease. Some other basement membranes containing the same collagen isoforms are similarly involved, notably in the cochlea, so that Alpo's syndrome is associated with sensorineural deafness and ocular abnormalities. Ref Harrison20th edition pg 289