Department of Pediatrics, IRCCS Istituto Giannina Gaslini, University of Genova, Genova, Italy; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
SSD Endocrinologia Pediatrica, Ospedale Pediatrico Microcitemico "A. Cao", AO Brotzu, Cagliari, Italy.
Best Pract Res Clin Endocrinol Metab. 2020 Sep;34(5):101440. doi: 10.1016/j.beem.2020.101440. Epub 2020 Jun 29.
Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of conditions (genetic, congenital, inflammatory, neoplastic, traumatic) that arise mainly from the hypothalamus. The differential diagnosis between diseases presenting with polyuria and polydipsia is challenging and requires a detailed medical history, physical examination, biochemical approach, imaging studies and, in some cases, histological confirmation. Magnetic resonance imaging is the gold standard method for evaluating the sellar-suprasellar region in CDI. Pituitary stalk size at presentation is variable and can change over time, depending on the underlying condition, and other brain areas or other organs - in specific diseases - may become involved during follow up. An early diagnosis and treatment are preferable in order to avoid central nervous system damage and the risk of dissemination of germ cell tumor, or progression of Langerhans Cell Histiocytosis, and in order to start treatment of additional pituitary defects without further delay. This review focuses on current diagnostic work-up and on the role of neuroimaging in the differential diagnosis of CDI in children and adolescents. It provides an update on the best approach for diagnosis - including novel biochemical markers such as copeptin - treatment and follow up of children and adolescents with CDI; it also describes the best approach to challenging situations such as post-surgical patients, adipsic patients, patients undergoing chemotherapy and/or in critical care.
中枢性尿崩症（CDI）是一种复杂的疾病，由于精氨酸加压素缺乏，导致大量稀释尿液排出，其病因多种多样（遗传、先天性、炎症、肿瘤、创伤），主要源自下丘脑。多尿和多饮的疾病表现之间的鉴别诊断具有挑战性，需要详细的病史、体检、生化方法、影像学研究，在某些情况下还需要组织学证实。磁共振成像（MRI）是评估 CDI 鞍上-鞍内区域的金标准方法。垂体柄在发病时的大小是可变的，并且可能随着时间的推移而改变，具体取决于潜在的病因，在随访期间，其他脑区或其他器官（在特定疾病中）可能会受到影响。早期诊断和治疗是可取的，以避免中枢神经系统损伤和生殖细胞瘤扩散的风险，或朗格汉斯细胞组织细胞增生症的进展，并尽早开始治疗其他垂体缺陷，而不会进一步延误。本综述重点关注当前的诊断方法，以及神经影像学在儿童和青少年 CDI 的鉴别诊断中的作用。它提供了关于儿童和青少年 CDI 的诊断-包括新的生化标志物如 copeptin-治疗和随访的最佳方法；它还描述了处理挑战性情况的最佳方法，如术后患者、无渴患者、接受化疗和/或重症监护的患者。
