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[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report].

Abstract
A 35-year-old female was referred to our clinic with a complaint of left flank pain in 1993. Drip infusion pyelography showed a filling defect of 25 x 24 mm in size in the left ureteropelvic junction. Computed tomography and ultrasonography revealed it as the renal stone. Percutaneous nephroureterolithotomy and extracorporeal shock-were lithotomy were performed. The stone was composed of 2,8-dihydroxyadenine (DHA). The patient was diagnosed as having a partial deficiency of adenine phosphoribosyltransferase (APRT) from the low APRT activity and a genotype of a compound heterozygote APRT*J/APRT*Q0 by T-cell analysis. The urinary excretion of 2,8-DHA crystals disappeared by the postoperative treatment with allopurinol. Cases of 2,8-DHA urolithiasis reported in the Japanese literature are discussed.
AuthorsT Ohne, A Fujito, K Koga, Y Imaide, M Uchida
JournalHinyokika kiyo. Acta urologica Japonica (Hinyokika Kiyo) Vol. 44 Issue 10 Pg. 725-8 (Oct 1998) ISSN: 0018-1994 [Print] Japan
PMID9850838 (Publication Type: Case Reports, English Abstract, Journal Article, Review)
Chemical References
  • 2,8-dihydroxyadenine
  • Adenine Phosphoribosyltransferase
  • Adenine
Topics
  • Adenine (analogs & derivatives, analysis)
  • Adenine Phosphoribosyltransferase (deficiency, genetics)
  • Adult
  • Female
  • Heterozygote
  • Humans
  • Kidney Calculi (chemistry, etiology)

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