Women with Alport syndrome: risks and rewards of kidney donation∗

Alport syndrome have influenced the way potential related kidney donors for Alport patients with end-stage renal dis-ease (ESRD) are assessed. Awareness of Alport syndrome among clinicians and families has increased greatly, so the disease is more likely to be suspected in patients with haematuria and in kindreds with renal disease. Widespread application of electron microscopy, immunohistochemistry and molecular genetics has enhanced diagnostic accuracy, with the result that we are more likely to know which pa-tients and families truly have Alport syndrome. We have learned that Alport syndrome is primarily an X-linked disorder (∼80 % of families) and that only ∼10 % of af-fected males represent de novo mutations, meaning that the mother of a boy with Alport syndrome is most likely a heterozygous carrier. Over 95 % of heterozygous wome