A case of 2.8 dihydroxadenine urolithiasis : Outcome and therapy;Un cas de lithiase de 2.8.dihydroxyadénine Particularités évolutives. Problèmes thérapeutiques

Journal d'Urologie

Volumn 102, Issue 4, 1996, Pages 161-167

  Thomas, J ^a   Conor, P ^b   Fompeydie, D ^c   Bellin, J ^d   Rechke, J P ^a   Arvis, G ^b  

^a HÔPITAL TENON   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c Faculte de Pharmacie   (France)

^d Centre hospitalier Marc Jacquet   (France)

Author keywords

8 dihydroxyadenine; Lithotripsy; Percutaneus stone extraction; Ureteral endoprothesis; Urolithiasis. 2

Indexed keywords

2,8 DIHYDROXYADENINE; ADENINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FEMALE; HUMAN; LITHOTRIPSY; UROLITHIASIS;

ADENINE; ADULT; FEMALE; HUMANS; KIDNEY CALCULI; LITHOTRIPSY; NEPHRECTOMY; NEPHROSTOMY, PERCUTANEOUS; TOMOGRAPHY, X-RAY COMPUTED; URETERAL CALCULI;

EID: 0030459970     PISSN: 02480018     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. BARRAT TM, GHAZALI S. The etiology of renal stone in children. Post Grad Med J 1977 ; 53 : 35-40.
2. BARRAT TM, SIMMANDS HA, CAMERON JS, POTTER CF, ROSE GA, ARKEL DO, WILLIAMS DL. Complete defiency of adenine phosphoribosyltransferase, a third case presenting as a renal stone in a yound child. Arch dis child 1979 ; 54 : 25-31.
3. CARTIER P, HAMET M, HAMBURGER J. Une nouvelle maladie métabolique : le déficit complet en adéninephosphoribosyltransférase avec lithiase de 2.8.dihydroxyadénine. CR Hebd Acad Sci Paris 1974; 279: 883-4.
4. CHEVET J. LE POGAMP P., OIE S, GARY J, DAUDON M, HAMET M. Lithiase de 2.8.dihydroxyadénine. Déficit homozygote en adéninephosphoribosyltransférase (APRT), et étude familiale. Néphrologie 1984; 5: 90.
5. CEBALLOS-PICOT I, PERIGNON JL, HAMET M, DAUDON M, KAMOUN P. 2,8 dihydroxyadenine urolithiasis, an underdiagnosed disease. The Lancet 1992 ; 339 : 1050-1.
6. Fox IH, LACROIX S, PLANE G, MOORE M. Partial deficiency of adenine phosphoribosyltransferase in man. Medicine 1997 ; 55 : 515-6.
7. JOHNSTON LA, GORDON RB, EMMERSON BT. Adenine phosphoribosyltransferase : a simple spectrophotometric assay and the incidence of mutation in thé normal population. Biochem Genêt 1977 ; 75 : 265-72.
8. KOZAK C, NICHOLS E, RUDDLE FH. Gene linkage analysis in the mouse by somatic cell hybridization : assignment of adenine phosphoribosyltransferase to Chromosom 8 and a galactosidase to the X chromosome. Somatic Cell Genet 1975 ; / : 371.
9. KELLEY WN, LEVY RI, ROSENBLAUM FM, HENDERSON JF, SEEGMILLER JE. Adenine phosphoribosyltransferase deficiency : a previously underscribed genetic defect in man. J Clin Invest 1968 ; 47:2281-9.
10. LAMONTAGNE AE Jr. 2,8 dihydroxyadenine urolithiasis : report of a case in a woman in the United States. J Urol 1989 ; 142 : 36970.
11. MANYAK MJ, FRENSILLI FJ, MILLER HC. 2,8 dihydroxyadenine urolithiasis : report of a case in the United States. J Urol 1987 ; 137: 312-4.
12. MOWBRAY S, WATSON B, HARRIS H. A search for electrophoretic variants of human adenine phosphoribosyltransferase. Ann Human Genet 1972 ; 36 : 153.
13. REVEILLAUD RJ, DAUDON M, PROTAT MF, VICENS A, GRAVELAU D. Lithiase 2.8.dihydroxyadénine : un nouveau cas dépisté par analyse infra-rouge. Nouv Presse Med 1979 ; 8: 2965-6.
14. SAKOMATO K, FUJISAWA Y, OHMORI A, MINODAK K, YAMAHKA H, NISHIOKA K. Dihydroxyadenine urolithiasis in children with partial deficiency of adenine pyrophosphoribosyltransferase. Urol Int 1981 ; 36: 274-80.
15. SIMMONDS HA, VAN ACKER KJ, CAMERON JS, SNEDDEN W. A new cause of urinary calculi : 2,8 dihydroxyadenine stones in supposed "uric acid" cristalluria. In : H FLEISH, WG ROBERTSON, LH SMITH, W WAHLENSIEK. "Urolithiasis Research" 582 p. Eds. Plenum Press N. York, 1976 : 517-21.
16. SPECTOR EB, HERSHFIELD MS, SEEGMILLER JE. Purine reutilization and synthetis de novo in APRT deficient long term lymphocyte lines. Monog Hum Genet 1978 ; 10 : 108.
17. SRIVASTAVA SK, VILLACOIRTE D, BEUTLER E. Correlation between adenine adenylate metabolysing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media. Transfusion 1972 ; 12 : 190-5.
18. THOMAS CB, ARNOLD WJ, KELLEY WN. Human adenine phosphoribosyltransferase. Purification and properties. J Biol Chem 1973; 248: 2529.
19. THOMAS J, THOMAS E. Lithiases urinaires. Problèmes médicaux, et TOBELEM G, ECONOMOU E, THOMAS J et ARVIS G. Les nouvelles technique urologiques de traitements des calculs. 1987 SGEM Vittel Editeur.
20. TISCHFIELD JA, RUDDLE FH. Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mousehuman somatic cell hibridization. Proc Nat Acad Sci USA, 1974 ;74 : 45.
21. WITTEN FR, MORGAN JW, FOSTER JG, GLENN JF. 2,8 dihydroxyadenine urolithiasis ; review of the littérature and report of a case in the united states. The J Urol 1983 : 130 : 938-42.