黄嘌呤尿症：对一个伴有家族性尿路结石和痛风的大家族的研究
Xanthinuria : study of a large kindred with familial urolithiasis and gout.
作者信息
Auscher C, Pasquier C, de Gery A, Weissenbach R, Delbarre F
出版信息
Biomedicine. 1977 Mar;27(2):57-9.
PMID:861350
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.
摘要
我们对一个发现有黄嘌呤尿症、黄嘌呤结石、尿酸结石和/或痛风的大家族进行了生化和临床研究。对其家系的分析表明：a）黄嘌呤尿症的遗传方式为常染色体隐性遗传；b）黄嘌呤尿路结石的发生可能是由于第二种遗传疾病的关联。
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