Subject(s)
Adenine Phosphoribosyltransferase/genetics , Chromosome Deletion , Chromosomes, Human, Pair 16 , Hominidae/genetics , Mice/genetics , Mutation , Animals , Cell Line, Transformed , Chromosome Mapping , Heterozygote , Homozygote , Humans , Models, Genetic , Polymorphism, Genetic , Repetitive Sequences, Nucleic Acid , T-Lymphocytes/enzymologyABSTRACT
A 48-year-old man with a history of recurrent urolithiasis and chronic renal failure underwent a nephrectomy for a renal mass. At surgery the mass proved to be a calculus impacted in a dilated calyx. Gross examination of the kidney revealed chalky white deposits in the deep medulla and papillary tips. Histologic examination revealed chronic interstitial nephritis with brown spicules within some tubular epithelial cells and larger deposits of brown crystals within tubular lumina, the interstitium of the medulla, and papillary tips. Polarization microscopy revealed individual crystals scattered throughout the renal parenchyma. Although the arrangement of the crystals was reminiscent of uric acid, and, in fact, a clinical diagnosis of gouty nephropathy was made, x-ray diffraction analysis demonstrated crystals of 2,8-dihydroxyadenine. Enzymatic studies confirmed the complete absence of adenine phosphoribosyltransferase activity in erythrocyte lysates.
