Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase

Urologia Internationalis

Volumn 36, Issue 4, 1981, Pages 274-280

  Sakamoto, Kimitaka ^a,b   Fujisawa, Yasuhito ^a,b   Ohmori, Akio ^a,b   Minoda, Kaoru ^a,b   Yamanaka, Hisashi ^a,b   Nishioka, Kusuki ^a,b  

^a FUKUOKA UNIVERSITY   (Japan)

^b MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

2,8 Dihydroxyadenine; Adenine phosphoribosyltransferase; Nonopaque calculi; Purine metabolism; Urolithiasis

Indexed keywords

EID: 0019790044     PISSN: 00421138     EISSN: 14230399     Source Type: Journal    
DOI: 10.1159/000280771     Document Type: Article

References (20)

1. Cartier, P.; Harriet, M.: Une nouvelle maladie metabolique: le deficit complet en adenine-phospho-ribosyltransferase avec lithiase de 2. 8-dihydroxy-adenine. C. r. hebd. Séanc. Acad. Sci., Paris 279: 883-886 (1974).
2. DeBray, H.; Cartier, P.; Temstet, A.; Cendron, J.: Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyltransferase. Pediat. Res. 10: 762-766 (1976).
3. Van Acker, K. J.; Simmonds. H. A.; Potter, C.; Cameron. J. S.: Complete deficiency of adenine phosphoribosyltransferase: report of a family. New Engl. J. Med. 297: 127-132 (1977).
4. Barratt, T. M.: Simmonds, H. A.; Cameron, J. S.; Potter. C. F.; Rose, G. A.; Arkell, D. G.: Williams, D. I.: Complete deficiency of adenine phosphoribo syltransferase: a third case presenting as renal stones in a young child. Archs Dis. Childh. 54: 25-31 (1979).
5. Osada, T.; Inoue. T.; Hirano, A.; Tanaka, K.; Ogita, Z.; Isobe, M.; Hayashi, S.: A case of 2, 8-dihy-droxyadenine lithiasis revealing a complete deficit in adenine phosphoribosyltransferase (Japanese). Jap. J. clin. Urol. 34: 981-984 (1980).
6. Kuroda, M.: Miki, T.; Kiyohara. H.; Usami, M.; Nakamura, T.; Kotake, T.; Takemoto, M.; Sonoda, T.: Urolithiasis composed of 2, 8-dihydroxyad-enine due to partial deficiency of adenine phosphoribosyltransferase; report of a case (Japanese). Jap. J. Urol. 71: 283-288 (1980).
7. Takeuchi, H.; Tomoyoshi, T.; Takahashi, Y.; Yoshida, O.; Uchida, M.; Nakamura, T.: 2, 8-Dihydroxy adenine urolithiasis associated with incomplete adenine phosphoribosyltransferase deficiency. Acta urol. jap. 27: 189-193 (1981).
8. Kelly, W. N.; Rosenbloom, F. M.; Henderson, J. F.; Seegmiller. J. E.: A specific enzyme defect in gout associated with overproduction of uric acid. Proc. natn. Acad. Sci. USA 57: 1753 (1967).
9. Lowry, O. H.; Rosebrough, N. J.; Farr, A. L.; Randall. R. J.: Protein measurement with the Folin phenol reagent. J. biol. Chem. 193: 265-275 (1951).
10. Yokoyama, M.; Suzuki, T.; Aso, Y.; Akaoka, I.: A xanthine stone in a xanthinuria boy: a biochemical case study. J. Urol. 118: 651-653 (1977).
11. Kelley, W. M.; Green. M. L.; Rosenbloom, F. M.; Henderson. J. F.; Seegmiller, J. E.: Hypoxanlhine-guanine phosphoribosyltransferase deficiency in gout. Ann. intern. Med. 70: 155-206 (1969).
12. Scrivastava, S. K.; Villacorte. D.; Bentler. E.: Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media. Transfusion 12: 190-195 (1972).
13. Emmerson, B. T.; Johnson. L. A.; Gordon, R. B.: Incidence of APRT deficiency. J. clin. Chem. clin. Biochem. 14: 285-290(1976).
14. Fox, I. H.; Lacroix, S.; Planet, G.; Moore, M.: Partial deficiency of adenine phosphoribosyltransferase in man. Medicine 56: 515-526 (1977).
15. Kelley, W. N.; Levy, R. I.; Rosenbloom, F. M.; Henderson. J. F.; Seegmiller. J. E.: Adenine phosphori-bosyltransferase deficiency: a previously undes-cribed genetic defect in man. J. clin. Invest. 47: 2281-2289 (1968).
16. Delbarre, F.; Auscher, C.; Amor, B.; DeGrey, A.; Cartier, P.; Hamct, H.: Gout with adenine phos-phoribosyltransferase deficiency. Biomedicine 21: 82-85 (1974).
17. Emmerson, B. T.; Gordon, R. B.: Thompson, L.: Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease. Aust. N. Z. J. Med. 5: 440-446 (1975).
18. Fox, I. H.; Meade. J. C.; Kelley, W. N.: Adenine phosphoribosyltransferase deficiency in man. Am. J. Med. 55: 614-620 (1973).
19. Cartier, P.: Les deficits enzymatiques du métabo-lismc des purines. Symposium interdisciplinaire sur fhyperuricémie, Paris. Adv. exp. Med. Biol. 76A: 295-302 (1977).
20. Ericson, A.; Groth. T.; Niklasson, F.; De Verdier. C. H.: Plasma concentration and renal excretion of adenine and 2, 8-dihydroxyadenine after administration of adenine in man. Scand. J. clin. Lab. Invest. 40: 1-8 (1980).