Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.
Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family.
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在一个日本大家庭中，伴有肾病的痛风性关节炎常染色体显性遗传。
DOI：
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发表时间：
1991
影响因子：
27.4
通讯作者：
Kenjiro Tanaka
中科院分区：
文献类型：
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作者：
Hisashi Yamanaka;Y. Yamamoto;Shouichi Fujimoto;Tanenao Eto;Kenjiro Tanaka
一个日本家庭的六代人患有痛风性关节炎和进行性肾病。获得了51名女性中的9名(18%)和66名男性中的15名(23%)的无症状高尿酸血症、痛风性关节炎或肾功能不全的数据。高尿酸血症或痛风性关节炎的四名男性和一名女性的肾功能也进行了检查。所有受试者的尿酸排泄量均减少，包括年轻人。10例患者的红细胞磷酸核糖焦磷酸合成酶和次黄嘌呤-鸟嘌呤磷酸核糖转移酶活性均正常。一些患者曾接受别嘌醇治疗以降低血尿酸浓度，但该治疗并未阻止肾损害的进展。这种疾病在这个大家庭中的传播被认为是常染色体显性遗传。数据表明，该家族中的疾病与其他工人描述的疾病是相同的实体--即家族性尿酸盐肾病。据目前所知，这是迄今为止报告的最大的这种疾病家庭。
Six generations of a Japanese family had gouty arthritis and progressive nephropathy. Data on nine of 51 women (18%) and 15 of 66 men (23%) with either asymptomatic hyperuricaemia, gouty arthritis, or renal insufficiency were obtained. Renal function in four men and one woman with hyperuricaemia or gouty arthritis was also examined. Urinary excretion of uric acid was decreased in all subjects examined, including the young. Erythrocyte phosphoribosylpyrophosphate synthetase and hypoxanthine-guanine phosphoribosyltransferase activities determined in 10 patients were normal. Some patients had been treated with allopurinol to reduce serum uric acid concentrations, but the treatment did not prevent progression of renal impairment. Transmission of the disease in this large family is considered to be autosomal dominant. The data suggest that the disease in this family is the same entity as that described by other workers--that is, familial urate nephropathy. As far as is known this is the largest family with this disease so far reported.