Alpo&;s syndrome is associated with all except-
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. Angiotensin-conveing enzyme (ACE) inhibitors may slow but not prevent loss of kidney function. Patients with Alpo's syndrome are good candidates for renal replacement therapy (R), as they are young and usually otherwise healthy. They can develop an immune response to the normal collagen antigens present in the GBM of the donor kidney and, in a small minority, anti-GBM disease develops and destroys the allograft. Alpo syndrome is a genetic condition characterized by kidneydisease, hearing loss, and eye abnormalities. People with Alpo syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys Ocular manifestations Anterior lenticonus, which occurs in approximately 25% of patients with XLAS, is the pathognomonic feature of Alpo syndrome. In this condition, the lens surface protrudes conically into the anterior chamber of the eye because of a thin and fragile basement membrane of the lens capsule. Ref Harrison20th edition pg 277
sensorineural deafness from bih
Posterior lenticonus
Peripheral retinal fleck
Hematuria
Kidney