Laczi F, Julesz J, Vecsernyés M, Halász Z, Márk G, Ovári Z, Szarvas F
1st Department of Medicine, Albert Szent-Györgyi Medical University, Szeged, Hungary.
Horm Metab Res. 1992 Feb;24(2):70-2. doi: 10.1055/s-2007-1003258.
Two families with hereditary central diabetes insipidus (CDI) are reported. The pedigree in both families shows an autosomal dominant trait. The plasma arginine-8-vasopressin (AVP) determined by radioimmunoassay was markedly lower in these CDI patients than in healthy controls; the difference being even more pronounced after a hyperosmotic challenge. Since in the present study histamine also failed to increase the plasma AVP concentration, the authors consider it unlikely that an osmoreceptor failure would be implicated in the pathogenesis of CDI in these cases. The AVP concentration of the lumbar cerebrospinal fluid was also measured in two members of one of the families: the level found at the lower normal range indicates that some AVP secretion has been maintained in the extrahypothalamic vasopressinergic system of these patients.
本文报道了两个患有遗传性中枢性尿崩症(CDI)的家系。两个家系的系谱均显示为常染色体显性遗传特征。通过放射免疫测定法测定的血浆精氨酸 - 8 - 血管加压素(AVP)在这些CDI患者中明显低于健康对照;在高渗刺激后差异更为显著。由于在本研究中组胺也未能增加血浆AVP浓度,作者认为在这些病例中渗透压感受器功能障碍不太可能参与CDI的发病机制。还对其中一个家系的两名成员的腰段脑脊液AVP浓度进行了测量:在正常范围下限发现的水平表明这些患者的下丘脑外血管加压素能系统中仍维持着一定的AVP分泌。