Department of Pediatrics Balkiraz Mahallesi, Ankara Univesity School of Medicine, Mamak, Ankara, Turkey.
Department of Pediatric Endocrinology and Diabetes, Ankara Univesity School of Medicine, Mamak, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2022 Jul 12;35(8):1089-1096. doi: 10.1515/jpem-2022-0058. Print 2022 Aug 26.
Central diabetes insipidus (CDI) is a rare but important disease of varying etiology that poses challenges in diagnosis and follow-up. Identifying diagnostic difficulties in patients with CDI will help ensure an optimal approach to their management and follow-up. This study aimed to characterize the clinical and etiological characteristics of CDI in pediatric patients.
We analyzed the admission and follow-up data of CDI patients aged 0-18 years who were followed in our center between 2010 and 2019.
The study included 56 patients with a mean age at diagnosis of 7.92 ± 5.11 years and symptom duration of 8.65 ± 21.3 months. The patients were grouped by etiology into those with organic causes, such as structural anomalies, tumors, and trauma (group 1, n=41) and other causes (group 2, n=15). The prevalence of idiopathic CDI was 16%. At least one pituitary hormone deficiency was detected in 60.7%, the most common being thyroid stimulating hormone deficiency. Patients in group 1 had a higher mean age at diagnosis, shorter symptom duration, and higher frequency of other pituitary hormone deficiencies compared to group 2. Additionally, germinoma was detected 1 year subsequent to normal MRI findings at diagnosis and another patient was diagnosed with Langerhans cell histiocytosis (LCH) 5 years after diagnosis. All patients responded well to replacement therapies, but two patients with germinoma died during follow-up.
In the pediatric age group, intracranial organic pathologies are an important etiology of CDI, and despite a short symptomatic period, determining the cause may be challenging and prolonged. Patients presenting at a young age with a long history of symptoms and no other pituitary hormone deficiency are unlikely to have organic CDI. However, organic causes such as LCH should be evaluated at all ages. Patients with idiopathic disease are candidates for further etiological studies, and repeated cranial imaging is important during follow-up.
中枢性尿崩症（CDI）是一种罕见但重要的疾病，病因多样，给诊断和随访带来挑战。识别 CDI 患者的诊断困难有助于确保对其进行最佳管理和随访。本研究旨在描述儿科患者 CDI 的临床和病因特征。
我们分析了 2010 年至 2019 年在我们中心随访的年龄在 0-18 岁之间的 CDI 患者的入院和随访数据。
该研究纳入了 56 名患者，平均诊断年龄为 7.92±5.11 岁，症状持续时间为 8.65±21.3 个月。根据病因将患者分为有器质性病因的患者，如结构异常、肿瘤和创伤（第 1 组，n=41）和其他病因（第 2 组，n=15）。特发性 CDI 的患病率为 16%。60.7%的患者至少存在一种垂体激素缺乏，最常见的是促甲状腺激素缺乏。与第 2 组相比，第 1 组患者的诊断年龄更高，症状持续时间更短，其他垂体激素缺乏的频率更高。此外，1 例患者在诊断时 MRI 正常 1 年后发现生殖细胞瘤，另 1 例患者在诊断 5 年后诊断为朗格汉斯细胞组织细胞增生症（LCH）。所有患者对替代治疗反应良好，但 2 例生殖细胞瘤患者在随访期间死亡。
在儿科年龄组中，颅内器质性病变是 CDI 的一个重要病因，尽管症状持续时间较短，但确定病因可能具有挑战性且需要较长时间。起病年龄较小、有较长病史且无其他垂体激素缺乏的患者不太可能为器质性 CDI。然而，所有年龄段都应评估 LCH 等器质性病因。特发性疾病患者是进一步病因研究的候选者，在随访期间重复进行颅部影像学检查很重要。
