Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Thin basement membrane nephropathy is an autosomal dominant disorder caused by heterozygous Alport-specific mutations. The haploinsufficiency of collagen 4 genes is responsible for the development of a thin basement membrane and erythrocyturia.
When sensorineural deafness and Alport-typical ocular abnormalities develop the disease is called Alport syndrome.
It is recommended to control those patients on a regular basis and to commence ACE inhibitor therapy as soon as proteinuria exceeds 300mg/d or other renal risk factors develop.
Heterozygous carriers should be aware of the risk af a child with full blown Alport syndrome if mating with an other carrier, Female carriers of an x-linked Alport mutation have a 50% risk of an affected boy.
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Wikipedia article Wikipedia EN (Thin_basement_membrane_disease)
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