Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan, Poland.
Department of Internal Medicine, Endocrinology and Diabetes, Medical University of Warsaw, Warsaw, Poland.
Clin Pediatr (Phila). 2024 Sep;63(8):1044-1055. doi: 10.1177/00099228231202607. Epub 2023 Oct 5.
Central diabetes insipidus (CDI) is a disorder in the pediatric population resulting from antidiuretic hormone deficiency. The excessive production of dilute urine characterizes it and manifests with polyuria, nocturia, and polydipsia. The diagnostics of CDI is often challenging, especially concerning the underlying condition of the disease. This article highlights the diverse clinical presentation of children with CDI and diagnostic difficulties among patients with polyuria and polydipsia. The article also reviews the etiology, symptoms, diagnostic workup, and management of CDI. We present 4 pediatric patients (aged 3-13.5 years) diagnosed with CDI of different etiology: 1 due to septo-optic dysplasia/optic nerve hypoplasia and 3 due to acquired processes such as Langerhans cell histiocytosis and germ cell tumor in 2 patients. Central diabetes insipidus was the first manifestation of a tumor or granuloma in all presented patients with acquired pathology. The patients sometimes need long-term follow-up to establish the proper final diagnosis.
中枢性尿崩症（CDI）是儿科人群中抗利尿激素缺乏引起的疾病。其特征是大量产生稀释尿液，并表现为多尿、夜尿和多饮。CDI 的诊断通常具有挑战性，尤其是在考虑疾病的潜在病因时。本文重点介绍了 CDI 患儿的多种临床表现以及多尿和多饮患者的诊断困难。本文还回顾了 CDI 的病因、症状、诊断方法和治疗。我们介绍了 4 例儿科患者（年龄 3-13.5 岁），他们被诊断为不同病因的 CDI：1 例由于隔-视神经发育不良/视神经发育不全，3 例由于获得性疾病，如朗格汉斯细胞组织细胞增生症和生殖细胞瘤，其中 2 例。在所有患有获得性疾病的患者中，中枢性尿崩症是肿瘤或肉芽肿的首发表现。这些患者有时需要长期随访以确定最终的正确诊断。
