Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
Jan BoeckhausJulia HoefeleKorbinian Maria RiedhammerMato NagelBodo B BeckMira ChoiMaik GollaschCarsten BergmannJoseph E SonntagVictoria TroeschJohanna StockOliver GrossPublished in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2022)
For the first time, this study shows that in AS, early therapy in individuals with missense variants might have the potential to delay renal failure for their lifetime and thus to improve life expectancy and quality of life without the need for renal replacement therapy. Some treated patients have reached their retirement age with still-functioning kidneys, whereas their untreated relatives have reached ESRF at the same or a younger age. Thus, in children with glomerular haematuria, early testing for Alport-related gene variants could lead to timely nephroprotective intervention.
Keyphrases
- copy number
- end stage renal disease
- newly diagnosed
- intellectual disability
- chronic kidney disease
- ejection fraction
- randomized controlled trial
- acute kidney injury
- young adults
- peritoneal dialysis
- stem cells
- dna methylation
- patient reported outcomes
- mesenchymal stem cells
- cell therapy
- replacement therapy
- patient reported