与前脑无裂畸形相关的慢性高钠血症。

Chronic hypernatremia associated with holoprosencephaly.

作者信息

Ohtake M, Suzuki H, Igarashi Y, Kobayashi Y, Saito T

出版信息

Tohoku J Exp Med. 1979 Aug;128(4):333-44. doi: 10.1620/tjem.128.333.

DOI:10.1620/tjem.128.333

Abstract

Two patients ( 1 7/12-year-old and 1 11/12-year-old girls) with chronic hypernatremia were studied. Neuroradiological findings and mildine facial defects showed characteristic features of holoprosencephaly. Water deprivation tests showed clear evidence of antidiuretic hormone (ADH) secretion. The responses to hypertonic saline infusion and acute water loading were abnormal. In one case, the impaired osmotic regulation of ADH secretion was demonstrated by measuring urinary ADH by a radioimmunoassay. In this case, the volume regulation of ADH secretion seemed to be also incomplete since chronic water loading for a period of six days induced water retension.

摘要

对两名慢性高钠血症患者（一名1又7/12岁女孩和一名1又11/12岁女孩）进行了研究。神经放射学检查结果和轻度面部缺陷显示出全前脑畸形的特征性表现。禁水试验显示有抗利尿激素（ADH）分泌的明确证据。对高渗盐水输注和急性水负荷的反应异常。在一例中，通过放射免疫测定法测量尿ADH，证实了ADH分泌的渗透调节受损。在该病例中，由于持续六天的慢性水负荷导致水潴留，ADH分泌的容量调节似乎也不完整。