The following is a summary of the “Clinical Significance of the Cystic Phenotype in Alport Syndrome,” published in the March 2024 issue of Nephrology by Zeni et al.

Despite Alport Syndrome (AS) being the most common genetic kidney disease linked to Type IV collagen mutations, the features and importance of AS with kidney cysts remain unclear.

Researchers conducted a retrospective study investigating cystic kidney phenotype’s prevalence and clinical implications in patients with AS.

They involved 108 patients with AS alongside a comparison cohort comprising 79 individuals diagnosed with IgA Nephropathy (IgAN). Comprehensive collection and analysis of clinical, genetic, and imaging data were retrieved from medical records. The cystic kidney phenotype was assessed through ultrasonography, defined by the presence of ≥3 cysts in each kidney. Demographic characteristics were explored, estimating the glomerular filtration rate (eGFR) at disease onset, the time the chronic kidney disease (CKD) stage 3b was reached, and longitudinal eGFR changes in patients with AS.

The results showed that in the AS cohort, cystic kidney phenotype was present in 38% of patients, predominantly with autosomal dominant AS. Notably, the prevalence of cystic kidney phenotype was significantly higher in patients with AS compared to the IgAN cohort (42% vs. 19%; P=0.002). Patients with cystic phenotype exhibited older age and more pronounced reductions in eGFR, suggesting a potentially accelerated decline in renal function.

Investigators found that a cystic kidney phenotype is typical in AS, suggesting the disease-causing genetic variants might play a role in cyst formation.

Source: sciencedirect.com/science/article/pii/S0272638624006814