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Working together to diagnose rare kidney disease earlier

Early diagnosis of rare kidney diseases has profound implications for patients in terms of access to treatment, disease trajectory and the identification of affected relatives. The innovative and collaborative approach taken by the global Alport community has delivered a sustainable global network that has advanced treatments and knowledge and offers insights that are relevant to the entire nephrology community.

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References

  1. Wong, K. et al. Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. Lancet 403, 1279–1289 (2024).

    Article  PubMed  PubMed Central  Google Scholar 

  2. Gross, O. et al. Safety and efficacy of the ACE-inhibitor ramipril in Alport syndrome: the double-blind, randomized, placebo-controlled, multicenter phase III EARLY PRO-TECT Alport trial in pediatric patients. ISRN Pediatr. 2012, 436046 (2012).

    Article  PubMed  PubMed Central  Google Scholar 

  3. Temme, J. et al. Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int. 81, 779–783 (2012).

    Article  CAS  PubMed  Google Scholar 

  4. Miner, J. H. et al. The 2014 International Workshop on Alport Syndrome. Kidney Int. 86, 679–684 (2014).

    Article  PubMed  PubMed Central  Google Scholar 

  5. Gibson, J. et al. Prevalence estimates of predicted pathogenic COL4A3-COL4A5 variants in a population sequencing database and their implications for Alport syndrome. J. Am. Soc. Nephrol. 32, 2273–2290 (2021).

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

I would like to acknowledge people living with rare kidney diseases around the world who are engaged in and inspiring research and leading their national patient organizations; the Trustees and team at Alport UK; the Alport Syndrome Alliance Workshop Organizing Committee members for 12 years of collaboration, for contributing to the international workshops on Alport Syndrome and for shared projects that are advancing treatments and knowledge.

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Correspondence to Susie Gear.

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Gear, S. Working together to diagnose rare kidney disease earlier. Nat Rev Nephrol (2026). https://doi.org/10.1038/s41581-026-01069-x

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