Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, No. 119, South 4 Ring Road West, Beijing, 100071, China.
Department of Geriatrics, Beijing Jishuitan Hospital, Capital Medical University, Beijing, 100035, China.
Eur J Pediatr. 2024 Dec;183(12):5279-5289. doi: 10.1007/s00431-024-05803-0. Epub 2024 Oct 9.
Adipsic arginine vasopressin deficiency(aAVP-D) is a rare, high-risk syndrome, particularly difficult to recognize and manage in children and adolescents. This investigation examined the clinical features and management of aAVP-D in children and adolescents with sellar germ cell tumors (GCTs). A retrospective survey was performed on 260 patients with sellar GCTs, categorized into aAVP-D and non-aAVP-D groups based on thirst presence. General characteristics, hypothalamic syndrome, pituitary function, metabolic indicators, and complications were compared. Biochemical indicator changes in the aAVP-D group were analyzed after systematic management, and receiver operating characteristic (ROC) curve analysis established the optimum serum sodium cut-off for predicting the aAVP-D. 25 patients (9.6%) developed aAVP-D. The aAVP-D group had larger tumors with hypothalamic involvement and more surgical resections. They also demonstrated more hypothalamic syndrome, central adrenal insufficiency, central hypogonadism, and insulin-like growth factor-1 levels below norms. Furthermore, aAVP-D patients exhibited significantly higher rates of hypernatremia (100% vs 20.9%, p < 0.001), hyperuricemia (60.0% vs 23.4%, p < 0.001), renal impairment (32.0% vs 1.7%, p < 0.001), and venous thrombosis (4.0% vs 0%, p = 0.002). Following systematic management, aAVP-D patients experienced significant reductions in serum sodium, uric acid, and creatinine levels, although these remained higher than in the non-aAVP-D group. ROC analysis indicated that a serum sodium level above 149.5 mmol/L predicted aAVP-D. Conclusion Patients with aAVP-D had more tumor involvement in the hypothalamic region, surgical resections, hypothalamic syndrome, hypopituitarism, and complications. Serum sodium levels above 149.5 mmol/L necessitated heightened vigilance for aAVP-D. Early identification and systematic management reduced complications, though clinical management remained challenging. What is Known • Adipsic arginine vasopressin deficiency (aAVP-D) is a rare and high-risk syndrome that is difficult to recognize and manage. • There are few reports on aAVP-D, most of which focus on adult patients. • The characteristics and management of aAVP-D in children and adolescents remain unclear. What is New • Children and adolescents with aAVP-D experienced higher rates of hypothalamic region tumor involvement, surgical resections, hypothalamic syndrome, hypopituitarism, and associated complications. • Serum sodium levels above 149.5 mmol/L necessitated heightened vigilance for aAVP-D. • Early recognition and structured management of ADI lowered the risk of complications.
尿崩症性精氨酸加压素缺乏症（aAVP-D）是一种罕见的、高危综合征，尤其是在儿童和青少年中，其识别和管理极具挑战。本研究旨在探讨鞍区生殖细胞瘤（GCTs）患儿中 aAVP-D 的临床特征和管理。我们对 260 例鞍区 GCT 患者进行了回顾性调查，根据口渴存在情况将其分为 aAVP-D 组和非-aAVP-D 组。比较两组的一般特征、下丘脑综合征、垂体功能、代谢指标和并发症。分析 aAVP-D 组系统管理后的生化指标变化，并通过受试者工作特征（ROC）曲线分析确定预测 aAVP-D 的最佳血清钠截止值。有 25 例（9.6%）患者发生 aAVP-D。aAVP-D 组肿瘤更大，下丘脑受累更多，手术切除更多。他们还表现出更多的下丘脑综合征、中枢性肾上腺功能不全、中枢性性腺功能减退和胰岛素样生长因子-1 水平低于正常值。此外，aAVP-D 患者的高钠血症（100% vs 20.9%，p<0.001）、高尿酸血症（60.0% vs 23.4%，p<0.001）、肾功能损害（32.0% vs 1.7%，p<0.001）和静脉血栓形成（4.0% vs 0%，p=0.002）发生率明显更高。经过系统管理，aAVP-D 患者的血清钠、尿酸和肌酐水平显著降低，但仍高于非-aAVP-D 组。ROC 分析表明，血清钠水平高于 149.5 mmol/L 可预测 aAVP-D。结论 aAVP-D 患者的下丘脑区域肿瘤受累更多、手术切除更多、下丘脑综合征、垂体功能减退症和并发症更多。血清钠水平高于 149.5 mmol/L 时需要高度警惕 aAVP-D。早期识别和系统管理可降低并发症的发生，但临床管理仍具有挑战性。已知的：• 尿崩症性精氨酸加压素缺乏症（aAVP-D）是一种罕见的、高危综合征，难以识别和管理。• 关于 aAVP-D 的报道较少，大多数报道集中在成年患者。• 儿童和青少年 aAVP-D 的特征和管理仍不清楚。新的：• aAVP-D 患儿的下丘脑区域肿瘤受累、手术切除、下丘脑综合征、垂体功能减退症和相关并发症发生率更高。• 血清钠水平高于 149.5 mmol/L 时需要高度警惕 aAVP-D。• 早期识别和结构化管理 ADI 可降低并发症风险。
