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Article Synopsis
  • Nephropathic cystinosis (NC) is a rare genetic disorder that leads to the buildup of cysteine crystals and eventually causes end-stage renal disease (ESRD).
  • A 16-year-old patient with both NC and von Willebrand disease (VWD) type III experienced uremic symptoms and required hemodialysis for 4 months due to ESRD, with significant care taken to manage bleeding risks from VWD.
  • This case highlights the newly identified link between NC and VWD type III and demonstrates the successful kidney transplantation in a patient with a hereditary bleeding disorder, suggesting that such procedures can be feasible in similar cases.
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