7
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

      Proceedings of the National Academy of Sciences of the United States of America
      Adenine, analogs & derivatives, urine, Adenine Phosphoribosyltransferase, blood, deficiency, genetics, Alleles, Animals, Erythrocytes, enzymology, Fibrosis, Homozygote, Humans, Inflammation, Kidney, pathology, Kidney Calculi, Mice, Mice, Knockout, Necrosis, Recombination, Genetic, Restriction Mapping, Stem Cells

      Read this article at

      ScienceOpenPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. Targeted homologous recombination in embryonic stem cells was used to produce mice that lack APRT. Mice homozygous for a null Aprt allele excrete adenine and DHA crystals in the urine. Renal histopathology showed extensive tubular dilation, inflammation, necrosis, and fibrosis that varied in severity between different mouse backgrounds. Thus, biochemical and histological changes in these mice mimic the human disease and provide a suitable model of human hereditary nephrolithiasis.

          Related collections

          Author and article information

          Comments

          Comment on this article