A Case Report of 2,8-Dihydroxyadenine Stone
Here we report a case of a 2,8-dihydroxyadenine (2,8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effect...
| Publié dans: | Hinyokika kiyo. Acta urologica Japonica. - 1962. - 61(2015), 7 vom: 02. Juli, Seite 279-83 |
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| Auteur principal: | |
| Autres auteurs: | , |
| Format: | Article |
| Langue: | Japanese |
| Publié: |
2015
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| Accès à la collection: | Hinyokika kiyo. Acta urologica Japonica |
| Sujets: | Case Reports English Abstract Journal Article Review 2,8-dihydroxyadenine 30377-37-8 Adenine Phosphoribosyltransferase EC 2.4.2.7 Adenine JAC85A2161 |
| Résumé: | Here we report a case of a 2,8-dihydroxyadenine (2,8-DHA) stone. A 48-year-old woman arrived at our hospital with left flank pain. She was diagnosed with a left ureteral stone. Extracorporeal shock wave lithotripsy (ESWL) was tried, but the left ureteral stone was radiolucent and ESWL was not effective. Transurethral ureterolithotripsy (TUL) was successful. An analysis of the stone revealed 2,8-DHA. A 2,8-DHA stone is caused by adenine phosphoribosyltransferase (APRT) deficiency. By genetic tests, she was diagnosed with APRT deficiency |
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| Description: | Date Completed 30.11.2015 Date Revised 17.08.2015 published: Print Citation Status MEDLINE |
| ISSN: | 0018-1994 |