Hereditary nephritis: a re-examination of its clinical and genetic features.
Hereditary nephritis: a re-examination of its clinical and genetic features.
复制标题
遗传性肾炎：对其临床和遗传特征的重新检查。
DOI：
10.7326/0003-4819-88-2-176
复制
发表时间：
1978
影响因子：
39.2
通讯作者：
H. Bloomer
中科院分区：
文献类型：
--
作者：
W. O'Neill;C. Atkin;H. Bloomer
为了重新评估当前遗传性肾炎的概念，我们研究了两个大型家系的尿液检查结果、疾病的病程及其遗传传播。我们确定了 150 名遗传性肾炎患者。我们的数据表明，镜下血尿是诊断男性和女性患者遗传性肾炎最可靠的泌尿标准。血尿常常伴有红细胞管型，表明肾脏病变是肾小球炎。男性比女性受到的影响更严重。他们在儿童早期就出现了明显的泌尿系统异常，并在成年后发展为肾功能衰竭。受影响的女性泌尿系统异常不太明显，很少出现尿毒症。在这两个家庭中，存在与性别相关的显性遗传传播模式。遗传性肾炎至少在某些家族中是 X 连锁的，这一证据有助于解释男性和女性之间严重程度的差异以及受影响女性的表达差异。
In order to re-evaluate current concepts of hereditary nephritis we studied the urinary findings, the course of the disease, and its genetic transmission in two large pedigrees. We identified 150 patients with hereditary nephritis. Our data show that microscopic hematuria is the most reliable urinary criterion for diagnosing hereditary nephritis in both male and female patients. The hematuria is frequently accompanied by erythrocyte casts indicating that the renal lesion is a glomerulitis. Men are more severely affected than women. They have striking urinary abnormalities, which are present in early childhood, and they progress to renal failure in adult life. Affected women have less obvious urinary abnormalities and rarely develop uremia. In these two families a sex-linked dominant mode of genetic transmission was present. The demonstration that hereditary nephritis is X-linked, at least in some families, helps to explain the difference in severity between men and women and the variable expression among affected women.