Hayek A, Peake G T
Pediatrics. 1982 Aug;70(2):275-8.
The clinical and laboratory data of a 5-year-old boy with the syndrome of essential hypernatremia are presented. In a four-year follow-up, no demonstrable hypothalamic structural lesion has been identified. Review of the literature has uncovered four similar cases, suggesting a distinct syndrome of altered hypothalamic function. The syndrome is characterized by: adipsia-hypodipsia (5/5 patients), recurrent hypernatremia (5/5), obesity (4/5), inability to excrete a water load (5/5), lack of growth hormone release in response to provocative stimuli (4/4), blunted thyrotropin releasing hormone responses (3/4), hypothyroidism (2/4), and hyperlipemia associated with hypernatremic crisis (1/1). In one of the patients the syndrome has been attributed to a disturbance of the opioid-peptide system.
本文报告了一名患有原发性高钠血症综合征的5岁男孩的临床和实验室数据。在为期四年的随访中，未发现明显的下丘脑结构病变。文献回顾发现了4例类似病例，提示存在一种独特的下丘脑功能改变综合征。该综合征的特征包括：渴感减退-低渴感（5/5例患者）、反复高钠血症（5/5）、肥胖（4/5）、不能排出水负荷（5/5）、对刺激物无生长激素释放反应（4/4）、促甲状腺激素释放激素反应减弱（3/4）、甲状腺功能减退（2/4）以及与高钠血症危象相关的高脂血症（1/1）。其中1例患者的综合征被归因于阿片肽系统紊乱。
