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Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities.

Nimisha S DangeNikhil ShahChirantap OzaJyoti SharmaJyoti SinghalSushil YewaleShruti MondkarShriniwas AmbikeVaman KhadilkarAnuradha V Khadilkar
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
We report a novel homozygous deletion in exon 6 of WFS-1 gene. The importance of evaluation of lower urinary tract malfunction is highlighted by our case series. The final bladder outcome in our cases was a poorly contractile bladder in three patients.
Keyphrases
  • urinary tract
  • end stage renal disease
  • spinal cord injury
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • skeletal muscle
  • peritoneal dialysis
  • prognostic factors
  • copy number
  • case report
  • smooth muscle