[Urolithiasis in 2,8-dihydroxyadeninuria: presentation of 3 additional cases].
To the now 17 case reports in caucasian patients of an urolithiasis in a rare purine metabolism disorder 2,8-dihydroxyadeninuria due to missing activity of adenine phosphoribosyltransferase 3 further cases are presented. Firstly, a monozygotic twin pair is afflicted (13-year-old boys). All calculi be composed of pure 2,8-DHA, except a mixed calculus in a 38-year-old man containing of 80% 2,8-DHA and 20% calcium oxalate. The actual literature is reviewed.
Leusmann
D B
DB
Urologische Klinik und Poliklinik, Westfälische Wilhelms-Universität Münster.
Schmidt
G
G
D000225:Adenine / Q000031:analogs & derivatives* / Q000652:urine; D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency; D000293:Adolescent; D006801:Humans; D007669:Kidney Calculi / Q000209:etiology / Q000378:metabolism / Q000652:urine*; D008297:Male; D010375:Pedigree; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D014961:X-Ray Diffraction
C002993:2,8-dihydroxyadenine; D000228:Adenine Phosphoribosyltransferase; D000225:Adenine
Urolithiasis bei 2,8-Dihydroxyadeninurie: Vorstellung von drei weiteren Fällen.