Study of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population

Conclusions: Our results suggest that dominant patterns are accompanied by a severe clinical expression that can be superimposed to the recessive and X chromosome-linked patterns, contrary to what has been classically stated. The high phenotypic variability observed in the families lead to the fact that many cases go unnoticed and the severest cases are erroneously diagnosed as recessive, which means that the real prevalence of dominant forms is probably higher than the current 5%.Kidney Blood Press Res 2015;40:435-442
Source: Kidney and Blood Pressure Research - Category: Urology & Nephrology Source Type: research