Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus.
Autosomal recessive inheritance of vasopressin-resistant diabetes insipidus.
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加压素抵抗性尿崩症的常染色体隐性遗传。
DOI：
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发表时间：
1991
期刊：
影响因子：
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通讯作者：
Joe T.R. Clarke
中科院分区：
文献类型：
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作者：
J. Langley;J. Balfe;T. Selander;Peter N. Ray;Joe T.R. Clarke
我们报告2智力正常姐妹篇血管加压素抵抗（肾源性）尿崩症（NDI）。患者的性别，父母的血缘关系的历史，以及父母双方形成正常浓缩尿的事实表明，在2姐妹篇的NDI是影响肾小管水重吸收的常染色体隐性突变遗传的结果。Knoers等[1988]用St14作为探针对DXS52基因座进行DNA分析，结果显示与X染色体上的NDI基因座紧密连锁，表明每个女孩遗传了母体X染色体上不同的Xq28区域，排除了经典X连锁NDI的诊断。
We report on 2 intellectually normal sisters with vasopressin-resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of inheritance of an autosomal recessive mutation affecting renal tubular water reabsorption. The results of DNA analysis of the DXS52 locus with the use of St14 as probe, shown by Knoers et al. [1988] to be tightly linked to the NDI locus on the X-chromosome, showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X-linked NDI.