title: Xanthinuria : study of a large kindred with familial urolithiasis and gout.
abstract: We have carried out biochemical and clinical studies on a large family in which xanthinuria, xanthine lithiasis, uric acid lithiasis and/or gout were discovered. The analysis of its pedigree has shown that : a) the mode of transmission of xanthinuria is autosomal recessive; b) the occurence of xanthine urolithiasis is likely to be due to the association of a second genetic disorder.
mesh_terms: D005260:Female; D006073:Gout / Q000150:complications / Q000235:genetics* / Q000652:urine; D006801:Humans; D008297:Male; D010375:Pedigree; D014545:Urinary Calculi / Q000150:complications / Q000235:genetics* / Q000652:urine; D014970:Xanthines / Q000652:urine*
chemical_list: D014970:Xanthines