Top Abstract Purchase Related
Home
>
Node
>
Subnode

A case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase partial deficiency

Nakanishi, S.; Saito, R.; Mizuno, K.; Matsuoka, T.; Kita, Y.; Asai, S.; Taoka, R.; Soda, T.; Inoue, K.; Terai, A.

Hinyokika Kiyo. Acta Urologica Japonica 57(10): 551-554

2011

ISSN/ISBN: 0018-1994
PMID: 22089152
Document Number: 648373
We report a case of bilateral renal calculi in a 1-year-old female with adenine phosphoribosyl transferase (APRT) partial deficiency. She initially visited another institution with high fever as the major complaint. Computed tomography revealed a bilateral renal stone and left hydro nephrosis. In the urine, there were 2, 8-dihydroxyadenine (DHA) crystals. An analysis of the APRT gene revealed the APRT deficiency and the genotype to be APRT*J/APRT*Q0. We performed extracorporeal shock wave lithotripsy (ESWL) under general anesthesia, and as dissolution therapy we administered Meylon through the nephrostomy and citric acid orally. The stone disappeared from her kidney. The analysis of the stone fragments revealed 2,8- dihydroxyadenine (DHA) urolithiasis.

Document emailed within 1 workday
Secure & encrypted payments

Rethoré, M.O.; Lafourcade, J.; Couturier, J.; Harpey, J.P.; Hamet, M.; Engler, R.; Alcindor, L.G.; Lejeune, J. 1982: Increased activity of adenine phosphoribosyl transferase in a child trisomic for 16q22.2 to 16qter due to malsegregation of a t(16;21) (q22.2;q22;2)pat Annales de Genetique 25(1): 36-42
Yadollahi-Farsani, M.; McKenna, P.G.; McKelvey-Martin, V.J. 1997: Molecular mechanisms of mutagen hypersensitivity in adenine phosphoribosyl transferase-deficient Friend mouse erythroleukaemia cells British Journal of Biomedical Science 54(3): 174-180
Kitami, K.; Kinoshita, Y.; Hosaka, M. 1990: A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase Hinyokika Kiyo. Acta Urologica Japonica 36(1): 73-76
Chang, C.H.; Jeng, K.S.; Chen, J.S.; Lin, Y.N.; Shih, S.L. 1989: Parathyroid adenoma associated with bilateral renal calculi. A case report Zhonghua Yi Xue Za Zhi 43(4): 269-272
Cai, L.-Q.; Li, M.; Lu, S.; Wang, H.-B.; Wang, Z.-H. 2004: Killing effect of adenovirus mediated fusion gene cytosine and deaminase uracil phosphoribosyl transferase directed by glutathione S-transferase P1 promoter on cisplatin-resistant ovarian cancer cells in vitro Zhonghua Fu Chan Ke Za Zhi 39(7): 478-481
Osawa, O.; Ohara, T.; Komatz, Y. 1991: Two cases of 2.8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase Hinyokika Kiyo. Acta Urologica Japonica 37(11): 1535-1538
Sreenevasan, G. 1974: Bilateral renal calculi Annals of the Royal College of Surgeons of England 55(1): 3-12
MacLeod, P.; Mackenzie, S.; Scriver, C.R. 1972: Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant Canadian Medical Association Journal 107(5): 405-408
Adair, C.D.; Benrubi, G.I.; Sanchez-Ramos, L.; Rhatigan, R. 1994: Bilateral tubal ectopic pregnancies after bilateral partial salpingectomy. A case report Journal of Reproductive Medicine 39(2): 131-133
Noro, T.; Kamikawa, A.; Samori, T.; Kawamura, T.; Igawa, F.; Seki, K.; Ueki, K.; Fujimaki, M. 1985: Determination and significance of adenine in the urine and the serum of a patient with congenital adenine phosphoribosyltransferase deficiency Rinsho Byori. Japanese Journal of Clinical Pathology 33(1): 89-94
Michalopoulos, G.; Strom, S.C.; Kligerman, A.D.; Irons, G.P.; Novicki, D.L. 1981: Mutagenesis induced by procarcinogens at the hypoxanthine-guanine phosphoribosyl transferase locus of human fibroblasts cocultured with rat hepatocytes Cancer Research 41(5): 1873-1878
Allende, J.; Canto, R.J. 1990: Percutaneous nephrostolithotomy: alternative for patients in renal failure secondary to bilateral staghorn calculi Boletin de la Asociacion Medica de Puerto Rico 82(3): 129-131
Ikeda, H.; Watanabe, T.; Fujimoto, Y.; Yamamoto, S.; Hosaki, I.; Isoyama, K.; Kawano, S.; Chiba, M. 2012: The first case of adenine phosphoribosyltransferase deficiency with APRT*Q0 (M1I) mutation in Japan Hinyokika Kiyo. Acta Urologica Japonica 58(7): 15-19
Kawasaki, G.; Yoshitomi, I.; Yanamoto, S.; Yamada, S.-I.; Kawano, T.; Mizuno, A. 2010: Immunohistochemical and clinicopathological study of thymidylate synthase, dihydropyrimidine dehydrogenase, and orotate phosphoribosyl transferase expression in oral cancer patients responding to UFT Gan to Kagaku Ryoho. Cancer and ChemoTherapy 37(6): 1035-1039
Ochiai, T.; Sugitani, M.; Nishimura, K.; Noguchi, H.; Watanabe, T.; Sengoku, H.; Komiyama, H.; Okano, M. 2002: Correlation between clinical pathophysiologic factors and expression of orotate phosphoribosyl transferase (OPRT), thymidylate synthase (TS), and dihydropyrimidine dehydrogenase (DPD) in colorectal cancer Gan to Kagaku Ryoho. Cancer and ChemoTherapy 29(3): 413-420
Takemura, M.; Morimura, K.; Yoshida, K.; Osugi, H.; Lee, S.; Kishida, S. 2010: Selection of anticancer drug for poorly-differentiated adenocarcinoma of colorectum from the level of orotate phosphoribosyl transferase and dihydropyrimidine dehydrogenase activities in cancer tissue Gan to Kagaku Ryoho. Cancer and ChemoTherapy 37(7): 1297-1301
Hanamornroongruang, S.; Treetipsatit, J.; Pongtanakul, B.; Seangchai, N. 2012: A 13-year-old female with Xp11.2 translocation renal cell carcinoma; the first case diagnosed at Siriraj Hospital Journal of the Medical Association of Thailand 95(7): 964-968
Jung, P.; Becht, E.; Ziegler, M.; Bommert, R.; Bach, K.; Haas, H.J. 1988: New diagnostic and therapeutic aspects of 2,8-dihydroxyadenine lithiasis. Another case of complete adenine phosphoribosyltransferase deficiency European Urology 14(6): 493-497
Ralichkova, L.; Khinev, A. 1991: A case of bilateral kidney tumor combined with staghorn calculi and skin cancer Khirurgiia 44(2): 59-63
Teranishi, J.; Ogawa, T.; Saito, K.; Noguchi, K.; Kubota, Y. 2003: Sjogren's syndrome with bilateral hydronephrosis caused by pseudolymphoma of bilateral renal pelves: a case report Hinyokika Kiyo. Acta Urologica Japonica 49(2): 91-93