Radetti G, Rizza F, Mengarda G, Pittschieler K
Department of Pediatrics, Regional Hospital of Bolzano, Italy.
Am J Dis Child. 1991 Mar;145(3):321-5. doi: 10.1001/archpedi.1991.02160030091028.
We describe two sisters with chronic hypernatremia, lack of thirst, and inappropriate osmoregulated vasopressin secretion. Only one sister, who presented with microcephaly and developmental delay, showed signs of dysplasia of the midline structures (ie, septum pellucidum and corpus callosum) and a large intracranial cyst. Neither sister showed any signs of thirst, even when osmolality exceeded 337 mmol/kg. In both patients, the vasopressin secretion did not respond to either osmotic or nonosmotic stimuli or was suppressed by a water load. Plasma osmolality values returned to normal after treatment with forced hydration and a vasopressin analogue, desamino-D-arginine vasopressin. These findings indicate a severe defect in the hypothalamic osmoreceptors that control thirst and vasopressin secretion. To our knowledge, this is the first report of such a disorder in two sisters.
我们描述了两名患有慢性高钠血症、无口渴感且抗利尿激素分泌渗透压调节异常的姐妹。只有一名患有小头畸形和发育迟缓的姐妹表现出中线结构（即透明隔和胼胝体）发育异常以及一个大的颅内囊肿的迹象。即使渗透压超过337 mmol/kg，两名姐妹均未表现出任何口渴迹象。在两名患者中，抗利尿激素分泌对渗透压或非渗透压刺激均无反应，或被水负荷抑制。经强制补液和使用抗利尿激素类似物去氨基-D-精氨酸加压素治疗后，血浆渗透压值恢复正常。这些发现表明控制口渴和抗利尿激素分泌的下丘脑渗透压感受器存在严重缺陷。据我们所知，这是关于两名姐妹患有这种疾病的首例报告。
