Activity of Adenine Phosphoribosyltransferase (Aprt) in Patients with Renal Failure and Urolithiasis
The common clinical manifestation of complete APRT-deficiency is 2,8-dihydroxyadenine (2,8-DHA) urolithiasis. Acute and chronic renal failure have also been reported1. On the other hand, homozygotes, either with late onset2or without symptoms3, have been described. Heterozygous patients are usually symptom-free and only occasionally form stones. It has been suggested that APRT-deficiency might not be a rare disease and is often overlooked in patients with renal failure or urolithiasis1. Thus, screening for APRT-deficiency in these patients seemed worthwhile.
KeywordsUric Acid Chronic Renal Failure Calcium Oxalate Unselected Patient Receive Blood Transfusion
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- 1.H. A. Simmonds and K. J. Van Acker, in: “The Metabolic Basis of Inherited Disease”, J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, J. L. Goldstein, and M. S. Brown, eds., McGraw-Hill, New York (1983).Google Scholar
- 4.M. Kuroda, T. Miki, H. Kiyohara, M. Usami, T. Nakamura, T. Kotake, M. Takemoto, and T. Sonoda, Japan. J. Urol. 71:283 (1980).Google Scholar
- 7.P. Banholzer and W. Gröbner, Adenine phosphoribosyltransferase, in: “Methods of Enzymatic Analysis”, Vol. III, H.U. Bermeyer, ed., Verlag Chemie, Weinheim (1983).Google Scholar
- 8.J. Pflanznagl, “Allgemeine Methodenlehre der Statistik”, Vol. II, De Gruyter, Berlin (1962).Google Scholar