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.
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Authors | T Ohne, A Fujito, K Koga, Y Imaide, M Uchida |
Journal | Hinyokika kiyo. Acta urologica Japonica
(Hinyokika Kiyo)
Vol. 44
Issue 10
Pg. 725-8
(Oct 1998)
ISSN: 0018-1994 [Print] Japan |
PMID | 9850838
(Publication Type: Case Reports, English Abstract, Journal Article, Review)
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Chemical References |
- 2,8-dihydroxyadenine
- Adenine Phosphoribosyltransferase
- Adenine
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Topics |
- Adenine
(analogs & derivatives, analysis)
- Adenine Phosphoribosyltransferase
(deficiency, genetics)
- Adult
- Female
- Heterozygote
- Humans
- Kidney Calculi
(chemistry, etiology)
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