Thread by @arkanalabs

It's time for another #DiseaseWeek!

This week, Dr. Best will cover Alport syndrome and start the week off by discussing the history of this renal disease. #Nephpearls

In 1927, Dr. Cecil Alport published a series on “hereditary familial congenital haemorrhagic nephritis” where he described its association with deafness and the gender differences in disease severity. #DiseaseWeek

ncbi.nlm.nih.gov/pubmed/20773074

Interestingly, Dr. Alport initially believed the etiology of the disorder was an individual susceptibility to a toxin of an unknown organism, probably belonging to the streptococcal group. #DiseaseWeek

ncbi.nlm.nih.gov/pubmed/20773074

The pathogenesis of the disorder known as Alport syndrome remained unknown until the early 1970’s when advances in electron microscopy allowed the identification of characteristic abnormalities in GBMs. #DiseaseWeek

ncbi.nlm.nih.gov/pubmed/4343992

Dr. Curtis Atkin, who suffered from Alport syndrome himself, mapped for the first time the affected gene to the long arm of the X chromosome (Xq22) in 1988. #DiseaseWeek

ncbi.nlm.nih.gov/pubmed/3422540

Shortly after, investigators from U of Oulu and U of Pennsylvania discovered the COL4A5 gene and mapped it to the same region known to contain the locus for X-linked AS. #DiseaseWeek

ncbi.nlm.nih.gov/pubmed/1689491

ncbi.nlm.nih.gov/pubmed/2339699

In 2019, close to 100 articles were published on AS and more than 800 different mutations have been identified. #DiseaseWeek

ncbi.nlm.nih.gov/pubmed/20574986

arup.utah.edu/database/ALPOR…