13Jan 2024
Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome

Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome

This retrospective cohort study investigated the prevalence of multicystic kidney disease (MKD) in patients with Autosomal Dominant Alport Syndrome (ADAS) caused by pathogenic variants in COL4A3 and COL4A4 genes. Among 31 ADAS patients, 52% had MKD, with a mean of 12.7 cysts per kidney. No genetic abnormalities were found in a panel of 101 other genes related to familial hematuria and cystic kidney disease. Patients with MKD had a higher prevalence of eGFR<45 ml/min/1.73m², more advanced chronic kidney disease (CKD), and a greater annual rate of eGFR decline compared to those without MKD. Time-averaged proteinuria and MKD were identified as the main determinants of eGFR change.

  • #nephrology

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