由于孤立性肾小管异常导致的家族性低尿酸血症。
Familial hypouricemia due to isolated renal tubular abnormality.
作者信息
Benjamin D, Sperling O, Weinberg A, Pinkhas J
出版信息
Biomedicine. 1978 Apr;29(2):54-6.
PMID:667288
Abstract
A family with genetic hypouricemia due to isolated renal tubular abnormality in urate handling is reported. Urinary urate excretion was decreased by 61% following administration of pyrazinamide, and increased by 25% following administration of probenecid. The response to these drug suggest genotype heterogeneity of renal hypouricemia in man.
摘要
报道了一个因尿酸处理中孤立性肾小管异常导致遗传性低尿酸血症的家族。给予吡嗪酰胺后，尿尿酸排泄减少了61%，给予丙磺舒后增加了25%。对这些药物的反应提示人类肾性低尿酸血症存在基因型异质性。
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