Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
J Formos Med Assoc. 2013 Oct;112(10):616-20. doi: 10.1016/j.jfma.2013.06.019. Epub 2013 Aug 2.
BACKGROUND/PURPOSE: Data on the clinical features of children with central diabetes insipidus (CDI) are lacking in Taiwan. This study investigated the clinical manifestations and etiology of CDI in Taiwanese children.
From 1983 to 2012, 62 children with permanent diabetes insipidus were enrolled in the study. They were diagnosed at the Department of Pediatrics of National Taiwan University Hospital. Their medical records were thoroughly reviewed and their clinical symptoms and signs, laboratory data, and etiologies were analyzed.
The patients' median age at diagnosis was 10 years and the median interval between initial manifestations and diagnosis was 0.5 years. The most common symptoms and signs were polyuria, polydipsia, nocturia, and growth retardation. Most patients had low urine osmolality and elevated plasma osmolality on diagnosis. Absence of a posterior pituitary hyperintense signal and thickening of the pituitary stalk were common findings on magnetic resonance imaging. Approximately 80% of the patients had anterior pituitary hormone deficiency and all patients had growth hormone deficiency. Approximately 60% of patients had intracranial lesions, the most common causes of which were germ cell tumor and Langerhans cell histiocytosis. Two patients were initially believed to have idiopathic CDI but intracranial lesions were detected during the follow-up period.
Because a delayed diagnosis of CDI is common in Taiwanese children, a high index of suspicion is important. The underlying etiology of CDI in children may not initially be obvious. Long-term surveillance is therefore necessary, especially for the early detection of evolving treatable intracranial lesions.
背景/目的:关于儿童中枢性尿崩症(CDI)的临床特征的数据在台湾地区较为缺乏。本研究旨在调查台湾地区儿童 CDI 的临床表现和病因。
1983 年至 2012 年间,共有 62 例永久性尿崩症患儿在国立台湾大学医院儿科就诊,被纳入本研究。详细回顾其病历资料,分析其临床表现和体征、实验室数据和病因。
患儿的中位诊断年龄为 10 岁,自首发症状至确诊的中位时间间隔为 0.5 年。最常见的症状和体征为多尿、多饮、夜尿和生长迟缓。大多数患儿初诊时尿渗透压降低,血浆渗透压升高。磁共振成像(MRI)常见垂体后叶高信号缺失和垂体柄增粗。约 80%的患儿存在腺垂体激素缺乏,所有患儿均存在生长激素缺乏。约 60%的患儿存在颅内病变,最常见的病因为生殖细胞瘤和朗格汉斯细胞组织细胞增生症。2 例患儿起初被认为是特发性 CDI,但在随访期间发现颅内病变。
由于 CDI 在台湾地区儿童中常被延误诊断,因此应保持高度警惕。儿童 CDI 的潜在病因最初可能不明显,因此需要长期监测,尤其是早期发现可治疗的进展性颅内病变。