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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study | Journal club

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Renal Genetics Education, brought to you by Natera

Many providers understand classic Alport syndrome. Recent clinical and molecular data demonstrate that the presentation of Alport syndrome is more variable than what we previously thought. Did you know, a patient with benign hematuria could really have Alport syndrome?

Dr. Lauren Beretich discusses a recently published article from AJKD in which the authors conducted a cohort study to describe the presentation of individuals with autosomal dominant Alport syndrome. The authors conclude that autosomal dominant alport syndrome can be difficult to diagnose and may be a cause of some cases of CKD of unknown etiology.

You can find the article here: https://pubmed.ncbi.nlm.nih.gov/33838...

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posted by sprotann12