Kolomoĭskaia M B
Ter Arkh. 1990;62(12):90-2.
The paper is concerned with a case of a familial variant of the hereditary De Lawter syndrome, optic nerve atrophy coupled with diabetes mellitus and insipidus. Double diabetes was detected in two brothers. Their uncle suffered from deaf-mutism. Diabetes mellitus was insulin-dependent, diabetes insipidus responded well to adiurekrin, pituitrin, chloropropamide; optic nerve atrophy was characterized by white discs with clearly defined borders. Apparently, the syndrome is based on several mutant genes the action of which manifests as isolated and in different combinations as well.
本文关注的是遗传性德洛特综合征的一种家族性变异病例,即视神经萎缩合并糖尿病和尿崩症。在两兄弟中检测到双糖尿病。他们的叔叔患有聋哑症。糖尿病为胰岛素依赖型,尿崩症对阿地瑞克林、垂体后叶素、氯磺丙脲反应良好;视神经萎缩的特征是视盘呈白色,边界清晰。显然,该综合征基于多个突变基因,其作用也表现为单独出现以及不同组合出现。