Ghirardello Stefano, Malattia Clara, Scagnelli Paola, Maghnie Mohamad
Department of Pediatrics, IRCCS Policlinico S Matteo, University of Pavia, Pavia, Italy.
J Pediatr Endocrinol Metab. 2005 Jul;18(7):631-45. doi: 10.1515/jpem.2005.18.7.631.
Diabetes insipidus is a heterogeneous condition characterised by polyuria and polydipsia caused by a lack of secretion of vasopressin, its physiological suppression following excessive water intake, or kidney resistance to its action. The clinical and laboratory diagnosis is confirmed by standard tests, but recent advances in molecular biology and imaging techniques have shed new light on the pathophysiology of this disease. In many patients, central diabetes insipidus is caused by a germinoma or craniopharyngioma; Langerhans' cell histiocytosis and sarcoidosis of the central nervous system; local inflammatory, autoimmune or vascular diseases; trauma from surgery or accident; and, rarely, genetic defects in vasopressin biosynthesis inherited as autosomal dominant or X-linked recessive traits. Thirty to fifty percent of cases are considered idiopathic. Tumour-associated central diabetes insipidus is uncommon in children younger than 5 years old. Biopsy of enlarged pituitary stalk should be reserved for patients with hypothalamic-pituitary mass and progressive thickening of the pituitary stalk since spontaneous recovery may occur. Molecular biology in selected patients may identify those with apparently idiopathic diabetes insipidus carrying the vasopressin-neurophysin II gene mutation.
尿崩症是一种异质性疾病，其特征为多尿和烦渴，病因是抗利尿激素分泌缺乏、过量饮水后其生理抑制作用或肾脏对其作用产生抵抗。临床和实验室诊断通过标准测试得以确认，但分子生物学和成像技术的最新进展为该疾病的病理生理学带来了新的认识。在许多患者中，中枢性尿崩症由生殖细胞瘤或颅咽管瘤、朗格汉斯细胞组织细胞增多症和中枢神经系统结节病、局部炎症性、自身免疫性或血管性疾病、手术或意外创伤引起，以及很少见的以常染色体显性或X连锁隐性性状遗传的抗利尿激素生物合成基因缺陷。30%至50%的病例被认为是特发性的。肿瘤相关性中枢性尿崩症在5岁以下儿童中并不常见。对于有下丘脑 - 垂体肿块且垂体柄进行性增粗的患者，应保留垂体柄增粗活检，因为可能会出现自发恢复。对部分患者进行分子生物学检测可能会识别出那些看似特发性尿崩症但携带抗利尿激素 - 神经垂体素II基因突变的患者。
