Alport's syndrome

usually inherited in an X-linked dominant pattern*(that's why family history is important).

more severe in males with females rarely developing renal failure (occur in 2nd or 3rd decade of life)

It is due to a defect in the gene which codes for type IV collagen resulting in an abnormal glomerular-basement membrane (GBM).

A favourite question is an Alport's patient with a failing renal transplant. This may be caused by the presence of anti-GBM antibodies leading to a Goodpasture's syndrome like picture

Alport's syndrome usually presents in childhood. The following features may be seen:

• microscopic haematuria
• progressive renal failure
• bilateral sensorineural deafness
• anterior lenticonus: protrusion of the lens surface into the anterior chamber
• retinitis pigmentosa
• renal biopsy: splitting of lamina densa seen on electron microscopy
• in around 85% of cases - 10-15% of cases are inherited in an autosomal recessive fashion with rare autosomal dominant variants existing

Never forget to examine the eyes!