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!

Alport Syndrome

young boy; hearing difficulty + asymptomatic microscopic hematuria and/or intermittent gross hematuria after URI

Family history is important

Look for ocular abnormalities in workup.

Recommendations

In the event that the nephrotic state requires steroid therapy for three or more months, then serious consideration should be given to formal assessment of BMD and, in the event of significant bone loss, specific therapy for osteoporosis