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COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.

Gulsah OzdemirBora GulhanEmine AtayarSeha SaygılıOguz SoylemezogluZeynep Birsin OzcakarFehime Kara ErogluCengiz CandanBelde Kasap DemirAlper SoyluSelçuk YükselHarika AlpayAyse AgbasAli DuzovaMutlu HayranFatih OzaltinRezan Topaloğlu
Published in: Pediatric nephrology (Berlin, Germany) (2020)
We emphasize that genetic testing is important for patients suspected as having AS. Furthermore, COL4A mutations should be considered in patients with FSGS and steroid-resistant nephrotic syndrome. This approach will shed light on the prognosis of patients and help with definitive diagnosis, preventing unnecessary and potentially harmful medications. Graphical abstract.
Keyphrases
  • poor prognosis
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • peritoneal dialysis
  • squamous cell carcinoma
  • young adults
  • case report