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Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.

Kiyokazu TsujiMineaki KitamuraKumiko MutaYasushi MochizukiTakayasu MoriEisei SoharaShinichi UchidaHideki SakaiHiroshi MukaeTomoya Nishino
Published in: BMC nephrology (2020)
We reported on a kidney transplant recipient that developed RHUC owing to his donor possessing a heterozygous mutation in the SLC22A12 (URAT1) gene. Despite this mutation, the clinical course was not problematic. Thus, the presence of donor-recipient chimerism in the tubular epithelium might positively affect the clinical course, at least in the short-term.
Keyphrases
  • early onset
  • copy number
  • genome wide identification
  • stem cells
  • gene expression
  • acute lymphoblastic leukemia
  • bone marrow
  • allogeneic hematopoietic stem cell transplantation
  • genome wide analysis