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Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants

Mónica Furlano1, Melissa Pilco-Teran1, Marc Pybus2

  • 1Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, Institut de Recerca Sant Pau, Department of Medicine, Universitat Autonoma de Barcelona (UAB), Barcelona, Spain.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
|February 6, 2024
PubMed

Insights

Individuals with COL4A3/COL4A4 variants frequently develop kidney cysts (KC), more so than the general population. KC presence is linked to age and kidney function (eGFR), not proteinuria or specific gene.

Area of Science:

  • Nephrology
  • Genetics
  • Medical Imaging

Background:

  • Heterozygous pathogenic/likely pathogenic (P/LP) variants in COL4A3/COL4A4 genes cause autosomal dominant Alport syndrome, presenting with variable clinical severity.
  • Kidney cysts (KC) are common, especially with advanced chronic kidney disease (CKD).
  • Previous studies suggest a possible link between COL4A3/COL4A4/COL4A5 variants and KC in small patient groups.

Purpose of the Study:

  • To assess the prevalence of kidney cysts (KC) in a multicenter cohort of individuals with heterozygous P/LP variants in COL4A3/COL4A4 genes.
  • To investigate the association between KC and clinical factors like age, proteinuria, and estimated glomerular filtration rate (eGFR).

Main Methods:

  • Ultrasound evaluation of KC in 157 individuals with COL4A3/COL4A4 P/LP variants not on kidney replacement therapy.
  • Analysis of associations between KC and age, proteinuria, eGFR, and causative gene.
  • Comparison of KC prevalence with historical data from the general population.

Main Results:

  • Half of the individuals with COL4A3/COL4A4 P/LP variants exhibited KC, a significantly higher prevalence than in the general population.
  • Age and eGFR were significantly associated with the presence of KC (P < .001).
  • No significant association was found between KC and proteinuria, sex, or the specific causative gene (COL4A3 vs. COL4A4).

Conclusions:

  • Individuals with COL4A3/COL4A4 P/LP variants have an increased predisposition to develop kidney cysts.
  • The presence of kidney cysts in this population is associated with advancing age and declining kidney function (eGRF).
  • Proteinuria, sex, and the specific causative gene do not appear to influence KC development in individuals with COL4A3/COL4A4 variants.
Abstract

Keywords:
COL4A3COL4A4Alport syndromekidney cyststype IV collagen nephropathy

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