Litiasis due to 2,8-dihydroxyadenine, usefulness of the genetic study

Nefrologia (Engl Ed). 2019 Mar-Apr;39(2):206-207. doi: 10.1016/j.nefro.2018.08.002. Epub 2018 Oct 30.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenine / adverse effects
  • Adenine / analogs & derivatives*
  • Adenine / analysis
  • Adenine Phosphoribosyltransferase / deficiency
  • Adenine Phosphoribosyltransferase / genetics
  • Adult
  • Humans
  • Kidney Calculi / chemically induced*
  • Kidney Calculi / chemistry
  • Male
  • Metabolism, Inborn Errors / complications
  • Point Mutation
  • Recurrence
  • Urolithiasis / complications

Substances

  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine

Supplementary concepts

  • Adenine phosphoribosyltransferase deficiency