Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency

Pediatric Nephrology

Volumn 25, Issue 6, 2010, Pages 1173-1176

  Iwaki, Takuma ^a   Kusaka, Takashi ^b   Ohashi, Ikuko ^a   Nishida, Tomoko ^a   Imai, Tadashi ^a   Itoh, Susumu ^a  

^a KAGAWA UNIVERSITY   (Japan)

^b KAGAWA UNIVERSITY   (Japan)

Author keywords

2 8 Dihydroxyadenine; Adenine phosphoribosyltransferase deficiency; APRT*J; APRT*Q0; Compound heterozygote; Crystalluria; Renal failure

Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; ALLOPURINOL; CREATININE; MUTANT PROTEIN; URIC ACID;

ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CRYSTALLURIA; DIARRHEA; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAMILY STUDY; FEMALE; FEVER; GENETIC ANALYSIS; GENETIC SCREENING; HEMATURIA; HETEROZYGOSITY; HUMAN; INFANT; MALE; PARENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING; UREA NITROGEN BLOOD LEVEL; URINE SEDIMENT; VOMITING;

ADENINE PHOSPHORIBOSYLTRANSFERASE; CHILD, PRESCHOOL; FEMALE; HETEROZYGOTE; HUMANS; INFANT; KIDNEY FAILURE, CHRONIC; MALE; MUTATION; PEDIGREE;

EID: 77951252398     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1430-4     Document Type: Article

References (14)

1. MC Greenwood MJ Dillon HA Simmonds TM Barratt JR Pincott C Metreweli 1982 Renal failure due to 2,8-dihydroxyadenine urolithiasis Eur J Pediatr 138 346 349 10.1007/BF00442515 1:STN:280:DyaL3s%2FislCgtw%3D%3D 7128645 (Pubitemid 12041568)
2. CB Thomas WN Arnold WN Kelley 1973 Human adenine phosphoribosyltransferase J Biol Chem 248 2529 2535 1:CAS:528:DyaE3sXhsFGru70%3D 4349039
3. JA Tischfield FH Ruddle 1974 Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human cell hybridization Proc Natl Acad Sci U S A 71 45 49 10.1073/pnas.71.1.45 1:CAS:528:DyaE2cXhtVKgurw%3D 4129802
4. H Higashimoto A Ouchi R Kawguchi 1995 Detection of the three common mutations of adenine phosphoribosyltransferase deficiency among Japanese Clin Chim Acta 234 1 10 10.1016/0009-8981(94)05967-W 1:CAS:528:DyaK2MXktFektrs%3D 7758207
5. Y Hidaka SA Tarle S Fujimori N Kamatani WN Kelly TD Palella 1988 Human adenine phosphoribosyltransferase deficiency; demonstration of a single mutant allele common to the Japanese J Clin Invest 81 945 950 10.1172/JCI113408 1:CAS:528:DyaL1cXhs1anurc%3D 3343350 (Pubitemid 18079750)
6. *Q0) leading to 2,8-dihydroxyadenine urolithiasis Hum Genet 85 500 504 1:STN:280: DyaK3M%2FjtlOrsg%3D%3D 2227934 (Pubitemid 20346800)
7. A Sahota J Chen K Asaki H Takeuchi PJ Stambrook JA Tischfield 1990 Identification of a common nonsense mutation in Japanese patients with type I adenine phosphoribosyltransferase deficiency Nucleic Acid Res 18 5915 5916 10.1093/nar/18.19.5915 1:CAS:528:DyaK3MXhvVGqtA%3D%3D 1977137 (Pubitemid 20343718)
8. *Q0): identification of 2,8-dihydroxyadenine (DHA) crystals in urine lead to the diagnosis Jpn J Med Technol 41 1493 1497
9. *Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan J Urol 149 824 826 1:STN:280:DyaK3s3gsVartQ%3D%3D 8455250 (Pubitemid 23111079)
10. F Yoshigoe N Furuta H Gotoh Y Ohnishi 1995 A case report of 2,8-dihydroxyadenine urolithiasis Jpn J Clin Urol 49 408 410
11. *Q0) Int J Urol 4 304 306 10.1111/j.1442-2042.1997.tb00195.x 1:STN:280:DyaK2szpvFGmtg%3D%3D 9255672 (Pubitemid 127494971)
12. T Ohne 1998 2,8-Dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report Hinyokika Kiyo 44 725 728 1:STN:280:DyaK1M%2Fmslyhtg%3D%3D 9850838 (Pubitemid 128521431)
13. M Shiba K Shimizu H Takatera 2003 2,8-Dihydroxyadenine (DHA) urolithiasis: a case report Hinyokika Kiyo 49 497 499 14518391
14. T Komura T Inagaki Y Koujimoto T Ohkawa S Yasukawa S Kitamura Y Tanaka 1992 2,8-Dihydroxyadenine stone: a case report Nishinihon J Urol 54 910 915