2, 8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: A case report

Acta Urologica Japonica

Volumn 44, Issue 10, 1998, Pages 725-728

  Ohne, Takuji ^a   Fujito, Akira ^a   Koga, Kazumi ^a   Imaide, Yoichiroh ^b   Uchida, Mutsumi ^b  

^a Koga General Hospital   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

2, 8 dihydroxyadenine urolithiasis; Adenine phosphoribosyltransferase deficiency; Compound heterozygote

Indexed keywords

2,8 DIHYDROXYADENINE; 2,8-DIHYDROXYADENINE; ADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; DRUG DERIVATIVE;

ADULT; CASE REPORT; CHEMISTRY; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; NEPHROLITHIASIS; REVIEW;

ADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; ADULT; FEMALE; HETEROZYGOTE; HUMANS; KIDNEY CALCULI;

EID: 2442712988     PISSN: 00181994     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. Kelley VVN, Levy RI, Rosenbloom FM, et al.: Adenine phosphoribosyltransferase deficiency: a previously underscribed genetic defect in man. J Clin Invest 47: 2281-2289, 1968
2. Cartier P and Hamet M: Une nouvelle maladie métabolique: le déficit complet en adénine phosphoribosyltransférase avec lithiase de 2, 8-dihydroxyadénine. CR Acad Sci Paris 279: 883-886, 1974
3. 2, 8-Dihydroxyadenine 25: 265-270, 1979
4. Fujimori S, Akaoka I, Sakamoto K, et al.: Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2, 8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies. Hum Genet 71: 171-176, 1985
5. Kamatani N, Kuroshima S, Yamanaka H, et al.: Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2, 8-dihydroxyadenine urolithiasis. Hum Genet 85: 500-504, 1990
6. Takeuchi H, Kaneko Y, Fujita J, et al.: A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2, 8-dihydroxyadenine urolithiasis: review of the reported cases with 2, 8-dihydroxyadenine stones in Japan. J Urol 149: 824-826, 1993
7. Higashimoto H, Ouchi A and Kawaguchi R : Detection of the three common mutations of adenine phosphoribosyltransferase deficiency among Japanese. Clin Chim Acta 234: 1-10, 1995
8. Sahota A, Chen J, Asaki K, et al.: Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency. Nucleic Acids Res 18: 5915-5916, 1990
9. Suzuki K, Kobayashi S, Kawamura K, et al.: Family study of 2, 8-dihydroxyadenine stone formation: report of two cases of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) . Int J Urol 4: 304-306, 1997
10. 2,8-Di-hydroxyadenine 54 : 9ID-915, 1992
11. Van Acker KJ, Simmonds HA, Potter CF, et al.: Complete deficiency of adenine phosphoribosyltransferase. report of a family. N Engl J Med 297: 127-132, 1977
12. 2, 8-Di-hydroxyadenine 40 : 1097-1101, 1994