Alport Syndrome Guidelines

Updated: Jun 28, 2021
  • Author: Ramesh Saxena, MD, PhD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Guidelines Summary

The Alport Variant Collaborative have released the following guidelines for the molecular diagnosis of Alport syndrome [29] :

  • Comprehensive parallel genetic testing of the entire coding sequence of each gene is recommended for detection of the causative pathogenic variant in the  COL4A5COL4A3 and  COL4A4 genes.
  • Genetic testing for diagnosis should take precedence over kidney biopsy.
  • When a causative variant is demonstrated, a kidney biopsy may not be needed for diagnosis.
  • Multigene Massively Parallel Sequencing kidney disease panels for the extended Alport phenotypes should include COL4A3–COL4A5 

In 2020, the Alport syndrome research collaborative updated its 2013 guidelines. The initiation of treatment with angiotensin-converting enzyme inhibition at the time of diagnosis in males with X-linked Alport syndrome and in males and females with autosomal recessive Alport syndrome is now recommended. For females with X-linked Alport syndrome and males and females with autosomal dominant Alport syndrome, treatment should be initiated at the onset of microalbuminuria. [30]