Division of Paediatric Endocrinology and Diabetes, University Children's Hospital Heidelberg, Heidelberg, Germany.
Centre for Rare Diseases, University Hospital Heidelberg, Heidelberg, Germany.
Horm Res Paediatr. 2024;97(3):270-278. doi: 10.1159/000532015. Epub 2023 Aug 22.
Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation testing and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Arginine-stimulated copeptin has been shown as a putative parameter for the differential diagnosis of CDI in adults.
In this single-centre retrospective study, we identified paediatric patients with suspected pituitary disorders who underwent standard arginine testing. Patients with CDI, matched controls, and primary polydipsia (PP) were identified. Diagnoses were confirmed retrospectively using comprehensive clinical and diagnostic characteristics. Serum copeptin concentrations were measured using a commercially available automated immunofluorescence assay (B.R.A.H.M.S Copeptin-proAVP KRYPTOR®) in samples stored for a median of 4.6 years (1.3-10.84) and collected before and 60 min after arginine infusion. Cut-off analyses were performed using ROC curves.
Serum samples from 32 patients with CDI, 32 matched controls, and 5 patients with PP (n = 69; 51 males, 18 females) were available for analysis. Median copeptin concentrations increased from 4.47 pmol/L (interquartile range [IQR]: 3.47-8.36) to 6.96 pmol/L (IQR: 4.51-12.89; p < 0.001) in controls, from 1.46 pmol/L (IQR: 1.21-2.12) to 1.44 (IQR: 1.10-1.87; p = 0.645, ns) in CDI, and from 4.40 pmol/L (3.95-6.33) to 9.58 pmol/L (8.19-11.42; p < 0.001) in PP. The published cut-off value of 3.8 pmol/L revealed a sensitivity of 100% and a specificity of 86.5% in confirming CDI.
Our results suggest that arginine-stimulated serum copeptin concentrations are a sensitive and specific diagnostic tool for CDI in paediatric patients, which may replace and simplify the conventional diagnostic pathway of water deprivation testing and hypertonic saline infusion.
中枢性尿崩症(CDI)的诊断仍然具有挑战性。水剥夺试验和高渗盐水输注作为既定的诊断试验,对患者的身心要求都很高。精氨酸刺激的 copeptin 已被证明是成人 CDI 鉴别诊断的一个有前途的参数。
在这项单中心回顾性研究中,我们鉴定了疑似垂体疾病的接受标准精氨酸试验的儿科患者。鉴定出 CDI 患者、匹配的对照组和原发性多尿症(PP)患者。通过使用综合临床和诊断特征进行回顾性确认诊断。在中位数为 4.6 年(1.3-10.84)的时间点,在接受精氨酸输注前和 60 分钟后,使用商业上可用的自动免疫荧光测定法(B.R.A.H.M.S Copeptin-proAVP KRYPTOR®)测量储存的血清 copeptin 浓度。使用 ROC 曲线进行截止值分析。
可用于分析的血清样本来自 32 例 CDI 患者、32 例匹配的对照组和 5 例 PP 患者(n=69;51 名男性,18 名女性)。对照组的 copeptin 浓度中位数从 4.47 pmol/L(四分位距[IQR]:3.47-8.36)增加到 6.96 pmol/L(IQR:4.51-12.89;p <0.001),CDI 组从 1.46 pmol/L(IQR:1.21-2.12)增加到 1.44(IQR:1.10-1.87;p=0.645,ns),PP 组从 4.40 pmol/L(3.95-6.33)增加到 9.58 pmol/L(8.19-11.42;p <0.001)。发表的 3.8 pmol/L 截断值表明,该值在确认 CDI 方面具有 100%的敏感性和 86.5%的特异性。
我们的研究结果表明,精氨酸刺激的血清 copeptin 浓度是儿科患者 CDI 的一种敏感和特异的诊断工具,可能取代并简化水剥夺试验和高渗盐水输注的传统诊断途径。