Schaff-Blass E, Robertson G L, Rosenfield R L
J Pediatr. 1983 May;102(5):703-8. doi: 10.1016/s0022-3476(83)80237-6.
An infant with microcephaly and delayed development was found to have chronic asymptomatic hypernatremia. Computerized brain tomography disclosed dysplasia of the midline structures, septum pellucidum and corpus collosum. Evaluation revealed defective osmoregulation, hypothalamic hypothyroidism, and hypogonadotropinism. He showed no desire to drink at plasma osmolalities over 330 mOsm/kg. His plasma vasopressin levels (less than or equal to 1.4 pg/ml) were inappropriately low relative to his high levels of plasma osmolality (greater than or equal to 310 mOsm/kg), which might be accounted for by either deficient neurohypophyseal vasopressin stores or disturbance of the hypothalamic osmoreceptors governing vasopressin. The first possibility was ruled out by demonstrating normal vasopressin response (167 pg/ml) to nonosmotic (emetic) stimulation. Under baseline conditions, his urine was concentrated up to 747 mOsm/kg and urine volume was low. With water loading, maximal water diuresis developed (urine osmolality 68 mOsm/kg), but his plasma osmolality remained in the hyperosmolar range (312 mOsm/kg). Treatment with a vasopressin analogue, desamino-D-arginine vasopressin, and forced hydration restored plasma osmolality and plasma sodium to normal. These findings indicate a severe defect in the hypothalamic osmoreceptors controlling thirst and vasopressin secretion with normal vasopressin stores and preserved vasopressin responsiveness to nonosmotic stimuli. To our knowledge, this report provides the first documentation of selective osmoreceptor defect in conjunction with congenital dysplasia of midline brain structures.
一名患有小头畸形和发育迟缓的婴儿被发现患有慢性无症状高钠血症。计算机断层扫描显示中线结构、透明隔和胼胝体发育异常。评估发现渗透压调节缺陷、下丘脑甲状腺功能减退和促性腺激素缺乏。当血浆渗透压超过330 mOsm/kg时，他没有饮水欲望。相对于其高水平的血浆渗透压（大于或等于310 mOsm/kg），他的血浆血管加压素水平（小于或等于1.4 pg/ml）异常低，这可能是由于神经垂体血管加压素储存不足或控制血管加压素的下丘脑渗透压感受器紊乱所致。通过证明对非渗透性（催吐）刺激有正常的血管加压素反应（167 pg/ml）排除了第一种可能性。在基线条件下，他的尿液浓缩至747 mOsm/kg，尿量较低。给予水负荷后，出现最大水利尿（尿渗透压68 mOsm/kg），但他的血浆渗透压仍处于高渗范围（312 mOsm/kg）。使用血管加压素类似物去氨基-D-精氨酸血管加压素治疗并强制补水使血浆渗透压和血浆钠恢复正常。这些发现表明，在下丘脑渗透压感受器控制口渴和血管加压素分泌方面存在严重缺陷，血管加压素储存正常且对非渗透性刺激的血管加压素反应性保留。据我们所知，本报告首次记录了选择性渗透压感受器缺陷与先天性中线脑结构发育异常同时存在的情况。
