Hui Channing, Khan Myra, Khan Suheb Mahammed Z., Radbel Jared M.
MercyHealth
University of Wisconsin
Arginine vasopressin disorder is a clinical syndrome characterized by the passage of abnormally large volumes of urine (diabetes) that is dilute (hypotonic) and devoid of dissolved solutes (ie, insipid). They belong to a group of inherited or acquired disorders of polyuria and polydipsia. This is associated with insufficient arginine vasopressin (AVP), antidiuretic hormone (ADH) secretion, or renal response to AVP, resulting in hypotonic polyuria and compensatory/underlying polydipsia. The hallmarks of diabetes insipidus (DI) include polyuria (>50 mL/kg), dilute urine (osmolality <300 mOsm/L), and increased thirst with the intake of up to 20 L/day fluid intake. Untreated DI can cause hypovolemia, dehydration, and electrolyte imbalances. In 2022, the Endocrine Society, European Society of Endocrinology, Pituitary Society, Society for Endocrinology, European Society for Paediatric Endocrinology, Endocrine Society of Australia, Brazilian Endocrine Society, and Japanese Endocrine Society all proposed to change the name of this disorder from central DI to arginine vasopressin deficiency (AVP-D), and nephrogenic DI to arginine vasopressin resistance (AVP-R). There are multiple reasons to consider changing the name of diabetes insipidus currently. First and foremost, the usage of the term "diabetes" in both diabetes mellitus and diabetes insipidus has confused patients and their caregivers. Although the terms "mellitus" and "insipidus" differentiate between the clinical characteristics of these two distinct causes of polyuria, the common term "diabetes" has led to misunderstandings, mainly when non-endocrine specialists are treating patients with DI. Some healthcare professionals fail to recognize the difference between these two disorders, resulting in severe consequences such as withholding desmopressin treatment in central DI cases, leading to adverse outcomes and even deaths. In response to these unfortunate and preventable occurrences, national safety alerts have been issued, surveys among endocrinologists have been conducted, and a global task force comprising experienced clinicians involved in the care of DI patients has emerged. These collective efforts have created a strong motivation to change the condition's name. Second, a recent survey published in The Lancet Diabetes & Endocrinology, which included over 1000 patients with central diabetes insipidus, revealed that 85% preferred a name change. The primary reason behind this preference was their encounters with healthcare professionals who exhibited an insufficient understanding of the disease, often confusing it with diabetes mellitus. Notably, 87% of the surveyed patients believed that this lack of knowledge and resulting clinical confusion negatively affected the management of their condition, leading to unnecessary blood sugar measurements and the prescription of medications intended for diabetes mellitus during hospitalization. Lastly, we believe medical disorder names should reflect the underlying pathophysiology. In the case of diabetes insipidus, the deficiency in the secretion and end-organ effects of the hormone arginine vasopressin (AVP) is now well-established. Therefore, for the reasons above, the working group proposes changing the name of DI to arginine vasopressin deficiency (AVP-D) for central causes and arginine vasopressin resistance (AVP-R) for nephrogenic reasons.
精氨酸加压素紊乱是一种临床综合征，其特征是排出大量异常稀释（低渗）且不含溶解溶质（即无味）的尿液（尿崩症）。它们属于一组遗传性或获得性多尿和烦渴症。这与精氨酸加压素（AVP）、抗利尿激素（ADH）分泌不足或肾脏对AVP的反应有关，导致低渗性多尿和代偿性/潜在性烦渴。尿崩症（DI）的标志包括多尿（>50 mL/kg）、稀释尿（渗透压<300 mOsm/L）以及口渴增加，每日液体摄入量可达20 L。未经治疗的DI可导致血容量减少、脱水和电解质失衡。2022年，美国内分泌学会、欧洲内分泌学会、垂体学会、内分泌学会、欧洲儿科内分泌学会、澳大利亚内分泌学会、巴西内分泌学会和日本内分泌学会均提议将这种疾病的名称从中枢性DI改为精氨酸加压素缺乏症（AVP-D），将肾性DI改为精氨酸加压素抵抗症（AVP-R）。目前有多个理由考虑更改尿崩症的名称。首先也是最重要的，糖尿病（diabetes mellitus）和尿崩症（diabetes insipidus）中“diabetes”一词的使用让患者及其护理人员感到困惑。尽管“mellitus”和“insipidus”这两个词区分了这两种不同多尿病因的临床特征，但共同的术语“diabetes”还是导致了误解，主要是在非内分泌专科医生治疗DI患者时。一些医疗保健专业人员未能认识到这两种疾病的区别，导致了严重后果——如在中枢性DI病例中停用去氨加压素治疗，从而导致不良后果甚至死亡。针对这些不幸且可预防的事件，已发布国家安全警报，对内分泌学家进行了调查，并且出现了一个由参与DI患者护理的经验丰富临床医生组成的全球特别工作组。这些共同努力产生了更改该疾病名称的强烈动机。其次，最近发表在《柳叶刀·糖尿病与内分泌学》上的一项调查，其中包括1000多名中枢性尿崩症患者，结果显示85%的患者倾向于更改名称。这种偏好背后的主要原因是他们遇到对该疾病理解不足的医疗保健专业人员，这些人员常常将其与糖尿病混淆。值得注意的是，87%的受访患者认为这种知识缺乏以及由此导致的临床混淆对他们病情的管理产生了负面影响，导致住院期间不必要的血糖测量以及开具用于糖尿病的药物。最后，我们认为医学病症名称应反映潜在的病理生理学。就尿崩症而言，现在已经明确精氨酸加压素（AVP）激素的分泌和终末器官效应存在缺陷。因此，出于上述原因，工作组提议将中枢性病因导致的DI更名为精氨酸加压素缺乏症（AVP-D），将肾性病因导致的DI更名为精氨酸加压素抵抗症（AVP-R）。
