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Coexisting presentation of two rare genetic variants of autosomal dominant polycystic kidney disease and Alport syndrome
  1. João Venda1,
  2. Andreia Henriques1,
  3. Rita Leal1,2 and
  4. Rui Alves1,2
  1. 1 Department of Nephrology, Coimbra Hospital and University Centre, Coimbra, Portugal
  2. 2 University of Coimbra, Coimbra, Portugal
  1. Correspondence to Dr João Venda; joaoporteladavenda{at}


Alport syndrome and autosomal dominant polycystic kidney disease are monogenic causes of chronic kidney disease and end-stage kidney failure. We present a case of a man in his 60s with progressive chronic kidney disease, bilateral sensorineural hearing loss and multiple renal cysts. Genetic analysis revealed a heterozygous variant in COL4A3 (linked to Alport syndrome) and in the GANAB gene (associated with a milder form of autosomal dominant polycystic kidney disease). Although each variant confers a mild risk of developing end-stage kidney disease, the patient presented a pronounced and accelerated progression of chronic kidney disease, which goes beyond what would be predicted by adding up their individual effects. This suggests a potential synergic effect of both variants, which warrants further investigation.

  • Renal medicine
  • Chronic renal failure
  • Genetics

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  • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: JV and RL were involved in conception of the manuscript. JV and AH wrote the first draft and acquired patient consent. RL and RA critically revised the manuscript. The following authors gave final approval of the manuscript: JV, AH, RL and RA have reviewed the final version of the case report and approved it.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.