Abstract:

Issues with females from Alport syndrome families have been ignored for many decades. The prevalence of females with mutated genes associated with Alport syndrome is higher than that of males. The diagnosis of females with Alport syndrome is a challenge for the wide spectrum of phenotypes of the disease, the untypical renal and out-renal damages, and the complicated settings in clinical presentations. In this review, we tried to delineate the pathogenesis of the X chromosome inactivation, to describe the diagnostic criteria of renal pathology, to illustrate the characteristic changes in immunofluorescent studies and the ultrastructural abnormalities under electronic microscopy. The issues with prognosis and renal transplantation concerning females from families of Alport syndrome were also disscused.