2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report
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 nephroureterol...
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| Veröffentlicht in: | Hinyokika kiyo. Acta urologica Japonica 1998-10, Vol.44 (10), p.725-728 |
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| container_title | Hinyokika kiyo. Acta urologica Japonica |
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| creator | Ohne, T Fujito, A Koga, K Imaide, Y Uchida, M |
| description | 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. |
| format | Article |
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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. 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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. 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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.</abstract><cop>Japan</cop><pmid>9850838</pmid><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0018-1994 |
| ispartof | Hinyokika kiyo. Acta urologica Japonica, 1998-10, Vol.44 (10), p.725-728 |
| issn | 0018-1994 |
| language | jpn |
| recordid | cdi_proquest_miscellaneous_70123033 |
| source | MEDLINE; Freely Accessible Japanese Titles |
| subjects | Adenine - analogs & derivatives Adenine - analysis Adenine Phosphoribosyltransferase - deficiency Adenine Phosphoribosyltransferase - genetics Adult Female Heterozygote Humans Kidney Calculi - chemistry Kidney Calculi - etiology |
| title | 2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report |
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