Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females.

摘要

In his 1927 report on 'hereditary familial congenital haemorrhagic nephritis', A. Cecil Alport noted that the 'male members of a family tend to develop nephritis and deafness and do not as a rule survive', while 'the females have deafness and haematuria and live to old age'. This characterization of the impact of gender on the outcome of Alport syndrome has been conventional wisdom for nearly 80 years. However, the family described by Alport included a female with haematuria and deafness who died at 24 years of age. Alport may have considered this woman an exception, but with the passage of time it has become clear that women with Alport syndrome are indeed at risk for progression to end-stage renal disease (ESRD).