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Clinical and genetic characterization of children with cubilin variants.

Neslihan ÇiçekHarika AlpaySercin GuvenCeren AlavandaÖzde Nisa TürkkanSerim PulEce DemirciNurdan YıldızPinar AtaIbrahim Gokce
Published in: Pediatric nephrology (Berlin, Germany) (2022)
CUBN gene mutations should be considered in patients with isolated non-nephrotic range proteinuria and normal kidney function. Diagnosing these patients, who are thought to have a better prognosis, is important in terms of avoiding unnecessary treatment and predicting prognosis. CUBN gene mutations may also present as FSGS which extends the spectrum of renal manifestation of these patients. A higher resolution version of the Graphical abstract is available as Supplementary information.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • gene expression
  • healthcare
  • patient reported outcomes
  • copy number
  • combination therapy