Spear G S
Clin Nephrol. 1984 Jan;21(1):3-6.
In the 81 years that have passed since the first description of the pedigree ultimately augmented by Alport, and in the 56 years since the latter description, insight into the pathogenesis of lethal familial hematuria has been limited. Work during the past decade has focused on the antigenic and chemical composition of the glomerular basement membrane. It is ever more likely that lethal familial hematuria of Alport type is a genetically heterogeneous phenotype.
自从首次描述最终由阿尔波特扩充的家系以来的81年里,以及自后者描述以来的56年里,对致死性家族性血尿发病机制的了解一直有限。过去十年的研究集中在肾小球基底膜的抗原和化学成分上。越来越有可能的是,阿尔波特型致死性家族性血尿是一种基因异质性表型。