School of Medicine, Creighton University, Omaha, Nebraska; and.
Division of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, Minnesota.
Pediatrics. 2021 May;147(5). doi: 10.1542/peds.2020-022848. Epub 2021 Apr 1.
Arginine vasopressin (AVP)-mediated osmoregulatory disorders, such as diabetes insipidus (DI) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) are common in the differential diagnosis for children with hypo- and hypernatremia and require timely recognition and treatment. DI is caused by a failure to concentrate urine secondary to impaired production of or response to AVP, resulting in hypernatremia. Newer methods of diagnosing DI include measuring copeptin levels; copeptin is AVP's chaperone protein and serves as a surrogate biomarker of AVP secretion. Intraoperative copeptin levels may also help predict the risk for developing DI after neurosurgical procedures. Copeptin levels hold diagnostic promise in other pediatric conditions, too. Recently, expanded genotype and phenotype correlations in inherited DI disorders have been described and may better predict the clinical course in affected children and infants. Similarly, newer formulations of synthetic AVP may improve pediatric DI treatment. In contrast to DI, SIADH, characterized by inappropriate AVP secretion, commonly leads to severe hyponatremia. Contemporary methods aid clinicians in distinguishing SIADH from other hyponatremic conditions, particularly cerebral salt wasting. Further research on the efficacy of therapies for pediatric SIADH is needed, although some adult treatments hold promise for pediatrics. Lastly, expansion of home point-of-care sodium testing may transform management of SIADH and DI in children. In this article, we review recent developments in the understanding of pathophysiology, diagnostic workup, and treatment of better outcomes and quality of life for children with these challenging disorders.
精氨酸加压素（AVP）介导的渗透压调节障碍，如尿崩症（DI）和抗利尿激素分泌不当综合征（SIADH），在低钠血症和高钠血症儿童的鉴别诊断中很常见，需要及时识别和治疗。DI 是由于 AVP 产生或反应受损导致尿液浓缩功能障碍引起的，导致高钠血症。诊断 DI 的新方法包括测量 copeptin 水平；copeptin 是 AVP 的伴侣蛋白，可作为 AVP 分泌的替代生物标志物。术中 copeptin 水平也可帮助预测神经外科手术后发生 DI 的风险。copeptin 水平在其他儿科疾病中也具有诊断潜力。最近，遗传性 DI 疾病中的扩展基因型和表型相关性已被描述，可能更好地预测受影响儿童和婴儿的临床过程。同样，新型合成 AVP 制剂也可能改善儿科 DI 的治疗效果。与 DI 不同，SIADH 以不适当的 AVP 分泌为特征，通常导致严重的低钠血症。当代方法有助于临床医生区分 SIADH 与其他低钠血症情况，尤其是脑性盐耗竭。尽管一些成人治疗对儿科有一定的应用前景，但仍需要对儿科 SIADH 治疗的疗效进行进一步研究。最后，家庭即时检测钠的普及可能会改变儿童 SIADH 和 DI 的管理方式。本文综述了近年来对这些挑战性疾病的病理生理学、诊断评估和治疗的理解的最新进展，以改善儿童的治疗效果和生活质量。
