尿崩症156例临床分析

目的：探讨尿崩症的病因，检查及治疗，方法：分析156例尿崩症的病因，观察疗效。结果：1．尿崩症属中枢性95．5％，肾性1．9％，精神性2．6％。2．中枢性尿 症中，特发性78．5％，颅脑外伤10．1％，颅内肿瘤8．8％，颅脑感染1．3％，库欣病术后继发1．3％，3．尿量，比重，渗透压是诊断尿崩症的筛选指标。4．禁饮一加压素试验是诊断病因的简便，实用的方法。5．测血浆精氨酸加压素（arginine vasopressinAVP), 头颅CT，MRI有助于基本病因的诊断。6．治疗中枢性特发性尿崩症，1－脱氨－8－右旋－精氨酸加压素（DDAVP）替代疗效确切。结论：中枢性尿崩症最常见，以特发性居多，禁饮一加压素试验是尿崩症病因诊断的简便方法，头颅CT，MRI可明确中枢性尿崩症的基本病因，DDAVP替代治疗安全有效。     

原发性高钠血症临床分析

目的:探讨原发性高钠血症的发病机制、临床特点和治疗效果。方法:回顾性分析我科收治的2例原发性高钠血症患者的临床资料。结果:2例患者均有下丘脑和垂体区域受损病史。表现为渴感减退、持续性血钠和血渗透压增高。禁水和限水后血渗透压增高时,尿渗透压也增高,最终可超过血渗透压,但与相应血渗透压相比,尿渗透压升高幅度不大。水负荷后血渗透压在较高水平抑制ADH释放。口服氢氯噻嗪、氯磺丙脲或抗利尿激素弥凝可部分改善高血渗透压和高钠血症。结论:下丘脑和垂体区域受损是致原发性高钠血症的一种病因。所谓的发病机制“中枢渗透压阈值升高”可能是部分性尿崩症合并中枢渴感减退。氢氯噻嗪、氯磺丙脲和抗利尿激素对原发性高钠血症有改善作用。     

可控膀胱造瘘术治疗成人肾源性尿崩症所致巨输尿管-巨膀胱综合征1例报道

目的探讨成人肾源性尿崩症所致巨输尿管-巨膀胱综合征的治疗方法。方法对1例肾源性尿崩症所致巨输尿管-巨膀胱综合征患者,施行可控性膀胱造瘘术,观察患者临床预后情况。结果术后控尿效果良好,随访1年,肾积水减轻,膀胱容量减小,肾功能正常,电解质检查正常,每日自行插管1～2小时1次,尿量500～700ml,膀胱造影显示膀胱容量较术前减小明显。结论可控膀胱造瘘术治疗成人肾源性尿崩症所致的巨输尿管-巨膀胱综合征,手术方法简单有效,可显著改善患者生活质量,有效地保护肾功能。     

一个先天性肾性尿崩症家系的基因分析

Background As an X-linked recessive way, arginine vasopressin receptor 2 （AVPR2） gene mutation resulted in ahereditary disease - congenital nephrogenic diabetes insipidus （CNDI）. We found a suspect clinical CNDI pedigree. Inorder to identify the genetic etiology, we performed the genetic analysis.     

未发现基因突变的肾性尿崩症一例报告

肾性尿崩症是一种典型的少见疾病,且遗传性肾性尿崩症的诊断主要依赖于临床表现和基因检测。截至目前,肾性尿崩症仍未引起患者的重视。虽然目前用于诊断肾性尿崩症的基因检测手段越来越普及,但仍有被忽略的案例,导致相应并发症的出现。本文报道南昌大学第一附属医院临床高度怀疑肾性尿崩症的1例患者,对患者及其父母进行精氨酸加压素受体2（AVPR2）基因和水通道蛋白2（AQP2）全外显子基因测序,却未发现有意义的突变。但患者经氢氯噻嗪口服治疗后,症状明显好转,值得临床注意。     

La potomanie: réévaluation des epreuves d'investigation et présentation inhabituelle avec hydronéphrose et méqavessie

Three cases of compulsive polydipsia previously diagnosed as diabetes insipidus are presented. Abnormally dilated bladder and pyelocalyceal systems were accompanying features, as previously described for diabetes insipidus, particularly of renal orign. Results of the hypertonic saline (Hickey-Hare) test were positive in only one case. Results of restriction of liquids followed by intravenous injection of vasopressin (Miller test) favoured a diagnosis of complete diabetes insipidus. These two tests cannot, therefore, exclude compulsive polydipsia. The features suggesting a diagnosis of compulsive water drinking are low plasma osmolality, a decrease in 24-hour urine output following water restriction, and abnormal behaviour. The diagnosis is confirmed by an 18-hour dehydration test done after gradual fluid restriction, which favours partial restoration of the papillary osmotic gradient.     

Hypernatraemia due to a reset osmostat for vasopressin release and thirst, complicated by nephrogenic diabetes insipidus

We describe a patient with chronic hypernatraemia (plasma sodium 148-155 mmol/l) and partial nephrogenic diabetes insipidus who had received prolonged lithium treatment. Despite stopping the drug for one year the abnormalities remained. Infusion of hypertonic saline (NaCl 855 mmol/l) allowed the characterization of osmoregulation of thirst and vasopressin secretion. Linear regression analysis of plasma vasopressin and osmolality defined the function, pAVP = 0.27 (pOsm - 301), and analysis of thirst measured by a visual analogue scale and plasma osmolality, the function, thirst = 0.16 (pOsm - 302) where pAVP and pOsm represent plasma arginine vasopressin and osmolality respectively. The slopes of the regression lines which describe the sensitivity of the osmoreceptors were within the normal range, but both abscissal intercepts, which define the thresholds for vasopressin release and thirst, were markedly elevated in comparison to normal (upper limit less than 290 mOsm/kg). Other investigations of electrolytes, anterior pituitary function and high definition computed tomographic scanning of hypothalamo-pituitary region were all normal. We conclude that this patient's chronic hypernatraemia was due to resetting of the osmostats for both vasopressin release and thirst, a rarely described mechanism to account for hypernatraemia. Although it is probable that the partial nephrogenic diabetes insipidus was related to prolonged lithium therapy, the cause of the reset osmostats remains unclear.     

神经外科术后中枢性尿崩症ADH变化曲线及其临床意义

目的：探讨神经外科术后并发中枢性尿崩症时血清抗利尿激素（ADH）变化曲线对判断不同类型中枢性尿崩症的临床意义。方法：动态观察神经外科手术后出现中枢性尿崩患者158例，采用放射免疫法测定患者术前及术后2周内不同时间点血清ADH浓度，绘制短 暂性、持续性及三相性尿崩症AHD变化曲线。结果：短暂性和三相性尿崩症术后血清ADH立即下降，于术后第2天达最低值，分别为术前血清ADH浓度的41.7%和63.6%，与术前比较差异有显著性（P<0.05）。短暂性尿崩症于术后第10天恢复术前水平，而三相性尿崩症在术后第7天血清浓度达高峰，超过术前水平，后逐渐下降。持续性尿崩症患者术后 血清ADH于术后1 d后下降，于术后第7天 最低值，为术前血清ADH水平的33.3%，后略有波动，但在2周内一直低于术前ADH水平（P<0.05）。结论： 通过对血清ADH变化曲线的分析，可以区分不同类型的中枢性尿崩症，进行有针对性的治疗，改善患者预后。     

Long term lithium therapy in Malaysia

Ten patients on long term lithium therapy (mean four years, range 1-10.5 years) were subjected to various renal, thyroid, haematological, cardiac and endocrine tests. There was impaired urinary concentrating ability in seven subjects, which was not responsive to vasopressin stimulation, suggesting a partial nephrogenic diabetes insipidus. Nine subjects had metabolic acidosis with higher urinary pH than expected suggesting presence of acidification defect in the kidney. No significant change in renal function, thyroid function, ECG or haematological parameters were detected. Our findings concur with previous reports from the West regarding the safety of lithium administration.     

预防性运用长效尿崩停对颅咽管瘤术后早期尿崩及血钠的影响

目的：分析探讨预防性使用长效尿崩停(鞣酸加压素针)对颅咽管瘤开颅术后早期尿崩及血钠的影响。 方法：回顾性分析2010至2014年行单侧额下开颅显微手术治疗的83例颅咽管瘤患者,分为预防性使用长效尿崩停组(使用组)和未使用组,对使用组及未使用组的术后早期尿崩情况及血钠变化趋势进行对比分析。结果：与未使用组比较,使用组整体术后早期尿崩的发生率少(P<0.05);垂体柄切除及肿瘤与三脑室底粘连紧密的患者术后尿崩发生率高(P<0.05),但在这两种情况中,使用组较未使用组术后早期尿崩的发生率少(P<0.05)。术后高钠者为37例(44.6%),术后出现低钠者共60例(72.3%),高钠、低钠出现的平均时间为术后1.4和3.7 d。术后高钠、低钠交替出现的有19例(22.9%)。使用组与未使用组在术后第1天血钠分布上差异有统计学意义(P<0.05),使用组术后第1天高钠出现百分比低于未使用组,差异有统计学意义(P<0.05)。结论：术中或术后早期预防性使用长效尿崩停可以有效减少颅咽管瘤患者术后早期尿崩及高钠血症的发生率。     

氯磺丙脲及安妥明联合应用治疗脑外伤后尿崩症

为了探讨脑外伤后尿崩症的治疗 ,回顾性分析了 1982年以来收治的 2 0 0 0余例脑外伤患者 ,3例诊断为中枢性尿崩症。联用磺丙舒 (0 .1g,3次 / d)和安妥明 (1.0 g,2次 / d) ,3例患者尿崩症症状得到有效控制 ,取得满意疗效。讨论了磺丙舒和安妥明联合用药的机制及治疗中的注意事项     

先天性肾性尿崩症患者精氨酸加压素受体2基因突变的检测分析

目的　探讨并检测先天性尿崩症患者精氨酸加压素受体 2 (AVPR2 )基因突变的临床意义。方法　对临床诊断为先天性尿崩症的 7例患者及 2 4名亲属的血液样本 ,提取基因组DNA ,通过PCR扩增AVPR2基因的 6个片断 ,用单链构象多肽性 (SSCP)进行基因突变的筛查 ,再对异常条带进行DNA测序证实基因的突变。结果　在 7例先天性尿崩症的患者中 ,发现 6例患者存在 5种类型共8个AVPR2的突变点 ,2例患者有AVPR2基因的双点突变 ,其余为单突变点 ,1例患者的母亲为AVPR2基因突变的携带者。其中 4个突变点国际尚未报道 ,它们分别是 :G 4 6 9 4 93del 2 4 ,G 5 4 1insT ,G 4 6 2delC和G 935T >C ,分别导致AVPR2受体蛋白A37 L4 4del(缺失突变 ) ,A6 1G 190X(插入移码突变 ,无义突变 ) ,P34R 36X(缺失移码突变和无义突变 ) ,C192R(错义突变 )。结论　发现了 4种新的AVPR2基因突变类型。采用PCR SSCP的方法可以对尿崩症的患者进行基因突变的粗筛 ,最后经过DNA测序可以做出基因突变的诊断。     

Vasopressin receptor mutations and nephrogenic diabetes insipidus

X-linked recessive nephrogenic diabetes insipidus is caused by mutations in the gene encoding the V2 vasopressin receptor (V2R), the mediator of the antidiuretic effect of arginine vasopressin (AVP) in mammalian kidneys. Upon binding to AVP, the receptor activates the G protein Gs, stimulating a phosphorylation cascade that promotes translocation of presynthesized water channels to the apical surface of the principal cells lining the last segments of the nephron. The presence of these channels allows the flow of water from the hypotonic lumen of the nephron into the hypertonic interstitium. More than 100 different mutations have been identified since the receptor gene was characterized--in most cases one per family, although some families bear two and three mutations in the same gene. The frequency of the de novo mutations identified suggests that the DNA at the end of the long arm of the X chromosome is very susceptible to alteration. The mutations are scattered within the coding region, not confined to a particular segment of the receptor protein, and in most cases confined to a single amino acid change that significantly reduces the number of receptors present on the plasma membrane. Some mutations do not affect protein synthesis but significantly reduce the coupling efficiency between the receptor and G protein. Analysis of the biochemical impact of the mutations has provided valuable information about the synthesis and regulation of the receptor.     

儿童尿崩症

对1956～1986年住院的尿崩症(DI)52例作了临床分析.近10年发病率较过去20年有显著升高(P<0.01).原发性垂体尿崩症(PPDI)30例,继发性垂体尿崩症(SPDI)22例,两组初发年龄与性别上无显著差异(P>0.05),多在学龄前或学龄期发病.31例DI随访9月～18年(平均8年),PPDI15例,SPDI16例.PPDI用VPTO维持治疗疗效非常满意;SPDI根治了原发疾病,并给予适当的VPTO治疗,其结局也是好的.     

Persistent nephrogenic diabetes insipidus, tubular proteinuria, aminoaciduria, and parathyroid hormone resistance following longterm lithium administration

We report a patient who developed persistent nephrogenic diabetes insipidus associated with renal tubular acidosis, renal resistance to parathyroid hormone, aminoaciduria and proximal tubule pattern proteinuria in the presence of a reduced glomerular filtration rate (19-24 ml/min). A review of the previous reports of persistent nephrogenic diabetes insipidus revealed that in all patients the glomerular filtration rate had been less than 60 ml/min at presentation. Chronic renal failure may therefore predispose to the development of persistent nephrogenic diabetes insipidus in patients receiving lithium.     

中枢性尿崩症20例临床分析

本文总结了20例中枢性尿崩症的临床资料。对其诊断及治疗提出了讨论,认为定期随访多数病例可以找到病因,强调脑CT检查有重要意义。推荐用1-去氨基-8-右旋精氨酸血管加压素治疗。     

Compulsive Polydipsia with Defective Renal Concentrating Capacity

Observations are presented on two patients with chronic compulsive polydipsia who showed a relative defect in renal concentrating capacity. After excluding all possible metabolic and renal causes of hyposthenuria and after obtaining normal kidney biopsies, both patients were studied in metabolic balance on a constant diet under the following conditions: (a) dehydration (loss of 3-5% body weight), (b) water loading and response to hypertonic saline, and (c) water loading and response to intravenous vasopressin (Pitressin). Throughout these studies the following parameters were observed: plasma and urine osmolality, glomerular filtration rate (inulin), renal plasma flow (P.A.H.), osmolar clearance and clearance of free water. In both patients the concentration defect was not related to variations in glomerular filtration rate or osmotic load. There was no correlation between the degree of hypoosmolality and the renal concentrating defect. Contrary to reports from other laboratories, restriction of water intake and chronic administration of intramuscular vasopressin did not correct the concentration defect.     

急性有机磷农药中毒发生中枢性尿崩症及高血糖患者的预后分析

目的研究急性有机磷农药中毒(AOPP)发生中枢性尿崩症(CDI)、高血糖及其对预后的影响。方法回顾AOPP患者32例临床资料,分析发生尿崩症、高血糖的情况,观察比较不同并发症患者的预后。结果并发CDI的6例患者全部死亡,病死率100%,CDI与非CDI患者血生化、尿比重比较,除BUN外差异均有统计学意义(P<0.05);并发高血糖13例患中,死亡7例,病死率53.8%,高血糖与非高血糖患者比较,血渗透压、尿比重比较,差异均有统计学意义(P<0.05)。随血糖水平升高,病死率呈增高趋势,血糖>14.0 mmol/L者病死率较血糖≤14.0mmol/L者病死率明显升高,差异有统计学意义(P<0.05)。结论 AOPP患者合并中枢性尿崩症或高血糖者病死率极高,近期预后差。     

影响颅咽管瘤术后尿崩的因素分析

目的 探讨颅咽管瘤术后尿崩的影响因素,以及术后尿崩的处理.方法 回顾性分析121例经手术治疗的颅咽管瘤术后尿崩情况,并分析影响尿崩的因素.结果 术前尿崩发生率为27.3% (33/121例),术后早期尿崩率89.9%(107/119例),晚期尿崩率为39.8%(37/93例).早期尿崩与肿瘤分型、肿瘤钙化程度显著相关,鞍膈上脑室外型肿瘤术后发生早期尿崩率最低.远期尿崩与年龄、术中垂体柄的处理、肿瘤分型显著相关,与肿瘤切除程度、肿瘤钙化程度无显著相关.非成人组较成人组发生远期尿崩率高,垂体柄离断者较垂体柄保留者发生远期尿崩率高,鞍膈上脑室内外型较鞍膈上脑室外型、鞍膈下型发生远期尿崩率高.结论 颅咽管瘤术后尿崩与肿瘤分型、肿瘤钙化程度、垂体柄的保护程度等多种因素相关.     

吲达帕胺治疗中枢性尿崩症的疗效及机制探讨

目的：观察吲达帕胺治疗中枢性尿崩症的效并初步探讨其作用机制。方法：采用随机区组设计，对８例中区性尿崩症患者轮流给予吲达帕胺２．５－７．５ｍｇ·ｄ＾－１或卡马西平１５０－３００ｍｇ·ｄ＾－１或双氢氧噻嗪５０－７５ｍｇ·ｄ＾－１口服治疗，连续８ｄ，停药８ｄ，停药４ｄ，依次更换药物二次，动态观察尿量及水盐代谢指标。结果：三药在用药的第４ｄ，第８ｄ尿量均较用药前为低；吲达帕胺在用药的第４ｄ，第８ｄ血钾、血