Splitting and thickening of the glomeru-lar basement membrane (BM) with podocytes (P) and capillary lumen (C).

Overview Alport Syndrome

In 1927 A.C. Alport described a progressive, hereditary nephropathy, together with deafness and ocular changes. The most common first symptom of the phenotypically heterogenious disease is (micro-)hematuria in more than 75%. Depending on the age when reaching end stage renal failure, the course of the disease is distinguished inbetween a juvenile (<31 years of age) or adult (>31 yeras of age) form. Three of the four following criteria are needed to make the diagnosis:

Information on Alport syndrome

Alport syndrome is a hereditary disease which causes renal fibrosis and inevitably leads to end stage renal failure (ESRF). It is caused by mutations in type IV collagen genes. The frequency is estimated to 1:5,000 in X-chromosomal and 1:50,000 in autosomal disease. Alport-children are usually diagnosed in their first or second decade of life being oligosymptomatic with hematuria and low grade proteinuria. At present, more than 500 children in Germany are at these early clinical stages of disease. Later they develop severe proteinuria and progressive renal failure. They face a ~1,000-fold increase risk of cardiovascular events, disabled growth, and infections due to nephrotic syndrome.

A comprehensive retrospective European Alport registry, established by our group, includes more than 200 patients on ACE-inhibitors (see European Alport Registry).