Maghnie Mohamad
Department of Paediatrics, IRCCS Policlinico S Matteo, University of Pavia, Pavia, Italy.
Horm Res. 2003;59 Suppl 1:42-54. doi: 10.1159/000067844.
Diabetes insipidus is a heterogeneous condition characterized 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. In many patients, it is caused by the destruction or degeneration of the neurons that originate in the supraoptic and paraventricular nuclei of the hypothalamus. Known causes of these lesions include: germinoma or craniopharyngioma; Langerhans cell histiocytosis and sarcoidosis of the central nervous system; local inflammatory, autoimmune or vascular diseases; trauma following 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. Magnetic resonance imaging (MRI) allows identification of the posterior pituitary hyperintensity and of hypothalamic-pituitary abnormalities. Thickening of the pituitary stalk is the second most common finding on MRI scans in several local inflammatory pathologies and autoimmune diseases or germinoma, but it is not specific to any single subtype. A progressive increase in the size of the anterior pituitary gland should alert physicians to the possibility that a germinoma is present, whereas a decrease can suggest the presence of an inflammatory or autoimmune process. Most children with acquired central diabetes insipidus and a thickened pituitary stalk have anterior pituitary hormone deficiencies during follow-up. Biopsy of enlarged pituitary stalk should be reserved for patients with a hypothalamic-pituitary mass and progressive thickening of the pituitary stalk, since spontaneous recovery may occur.
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。在许多患者中，病因是起源于下丘脑视上核和室旁核的神经元遭到破坏或发生变性。这些病变的已知病因包括：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；手术或事故后的创伤；以及极少数情况下，作为常染色体显性或X连锁隐性性状遗传的抗利尿激素生物合成遗传缺陷。30%至50%的病例被认为是特发性的。磁共振成像（MRI）可识别垂体后叶高信号以及下丘脑 - 垂体异常。垂体柄增粗是几种局部炎症性病变、自身免疫性疾病或生殖细胞瘤MRI扫描的第二常见表现，但并非任何单一亚型所特有。垂体前叶大小逐渐增加应提醒医生存在生殖细胞瘤的可能性，而垂体前叶大小减小则可能提示存在炎症或自身免疫过程。大多数获得性中枢性尿崩症且垂体柄增粗的儿童在随访期间存在垂体前叶激素缺乏。对于下丘脑 - 垂体肿块且垂体柄进行性增粗的患者，应保留垂体柄活检，因为可能会自发恢复。
