Cuesta Martín, Hannon Mark J, Thompson Christopher J
Academic Department of Endocrinology, Beaumont Hospital/RCSI Medical School, Beaumont Road, Dublin 9, Co., Dublin, Ireland.
Pituitary. 2017 Jun;20(3):372-380. doi: 10.1007/s11102-016-0784-4.
Adipsic diabetes insipidus (ADI) is a very rare disorder, characterized by hypotonic polyuria due to arginine vasopressin (AVP) deficiency and failure to generate the sensation of thirst in response to hypernatraemia. As the sensation of thirst is the key homeostatic mechanism that prevents hypernatraemic dehydration in patients with untreated diabetes insipidus (DI), adipsia leads to failure to respond to aquaresis with appropriate fluid intake. This predisposes to the development of significant hypernatraemia, which is the typical biochemical manifestation of adipsic DI.
A literature search was performed to review the background, etiology, management and associated complications of this rare condition.
ADI has been reported to occur in association with clipping of an anterior communicating artery aneurysm following subarachnoid haemorrhage, major hypothalamic surgery, traumatic brain injury and toluene exposure among other conditions. Management is very difficult and patients are prone to marked changes in plasma sodium concentration, in particular to the development of severe hypernatraemia. Associated hypothalamic disorders, such as severe obesity, sleep apnoea and thermoregulatory disorders are often observed in patients with ADI.
The management of ADI is challenging and is associated with significant morbidity and mortality. Prognosis is variable; hypothalamic complications lead to early death in some patients, but recent reports highlight the possibility of recovery of thirst.
失水性尿崩症(ADI)是一种非常罕见的疾病,其特征是由于精氨酸加压素(AVP)缺乏导致低渗性多尿,并且对高钠血症无口渴感。由于口渴感是预防未治疗的尿崩症(DI)患者发生高钠血症性脱水的关键稳态机制,无口渴感导致无法通过适当的液体摄入对水利尿作出反应。这易引发严重高钠血症的发生,而严重高钠血症是失水性DI的典型生化表现。
进行文献检索以回顾这种罕见疾病的背景、病因、管理及相关并发症。
据报道,ADI与蛛网膜下腔出血后前交通动脉瘤夹闭、大型下丘脑手术、创伤性脑损伤以及甲苯暴露等情况有关。管理非常困难,患者血浆钠浓度容易发生显著变化,尤其是容易发展为严重高钠血症。ADI患者常伴有下丘脑相关疾病,如严重肥胖、睡眠呼吸暂停和体温调节障碍。
ADI的管理具有挑战性,且与显著的发病率和死亡率相关。预后各不相同;下丘脑并发症在一些患者中导致早期死亡,但最近的报告强调了口渴感恢复的可能性。