[Uric acid stones in children. Identification and therapy of a newly detected defect of adenine-phosphoribosyltransferase (author's transl)].
APRT deficiency, a new cause of supposed "uric acid" stones in young children may be benign or life threatening. This stresses the importance of early recognition and diagnosis. The renal failure, severe in some instances, is preventable because 2,8-DHA formation, the precipitating factor in all, may be controlled by allopurinol preferably without alkali. A low purine diet is advised. "Uric acid" stones in children should always be subjected to sophisticated analysis, and regarded with suspicion in young adults. Diagnosis from red cell APRT activity will be impossible in transfused subjects.
D000228:Adenine Phosphoribosyltransferase / Q000172:deficiency*; D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D004035:Diet Therapy; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011687:Purines / Q000378:metabolism; D012995:Solubility; D014527:Uric Acid; D014545:Urinary Calculi / Q000209:etiology* / Q000235:genetics / Q000517:prevention & control
D011687:Purines; D014527:Uric Acid; D000493:Allopurinol; D010430:Pentosyltransferases; D000228:Adenine Phosphoribosyltransferase
Harnsteine bei Kindern. Differentialdiagnose und Therapie eines neu entdeckten Defekts der Adenin-Phosphoribosyltransferase.