关键词： 肾性尿崩症   肾积水   巨膀胱   巨输尿管  

摘要： 目的探讨肾性尿崩症所致巨膀胱-巨输尿管综合征的临床特点及诊疗方法。方法分析北京联科中医肾病医院去年收治的1例罕见继发于肾性尿崩症的巨膀胱-巨输尿管综合征病例,探讨其诊断思路及治疗方法。结果本例患者为肾性尿崩症所致的肾脏积水、巨大膀胱合并尿潴留、输尿管重度扩张,肾功能正常,影像尿流动力学及肾脏B超、肾脏CT、肾脏逆行造影均未见尿路梗阻表现。氢氯噻嗪及垂体后叶素治疗后尿量明显减少,但是膀胱残余尿及肾积水、输尿管积水情况未见明显好转。给予24小时持续性无夹闭导尿后,测量膀胱残余尿为0 m L,输尿管扩张完全消失,治疗效果显著。结论肾性尿崩症无尿路梗阻的情况下合并肾脏积水、巨大膀胱并尿潴留、输尿管重度扩张比较罕见。临床对本病易误诊为神经源性膀胱,早期诊断及治疗对于患者的预后至关重要。

关键词： AQP2基因   基因突变   先天性肾性尿崩症  

摘要： 目的:报告1例AQP2基因突变相关性先天性肾性尿崩症临床诊断过程,复习文献,提高对该病的认识。方法:总结、分析病例的临床及基因检测资料并进行相关文献复习。结果:1)病例资料:11M8D,男婴,发现体重不增5月余,反复发热20余天。入院查体前囟平,轻度脱水貌,口唇粘膜干燥,双肺呼吸音粗,未闻及明显干湿啰音,心音中,律齐,未及杂音,四肢肌张力低。多次血气提示高钠血症。检测到AQP2有2个杂合突变:1c.170A>C点突变,p.Q57P突变,为错义突变。经家系验证分析,受检人之父该位点杂合变异,受检人之母该位点无变异;2c.481G>A点突变,p.A161T突变,为错义突变。经家系验证分析,受检人之父该位点无变异,受检人之母该位点杂合变异。2)文献复习:AQP2的2种突变,其中p.Q57P的突变,已有报道;p.A161T突变为首次报道;列出目前AQP2基因相关性先天性肾性尿崩症的突变位点。结论:初步诊断1例AQP2基因突变相关性先天性肾性尿崩症。

关键词： 先天性肾性尿崩症   低促性腺激素性性腺功能减退症   精氨酸加压素受体2   基因突变  

摘要： 目的分析先天性肾性尿崩症(CNDI)伴低促性腺激素性性腺功能减退症(HH)的临床诊治特点。方法回顾性分析1例CNDI伴HH患儿的临床诊治资料,并复习相关文献。结果患者男,10岁,以多饮、多尿和性腺发育延迟为主要表现;禁水试验阳性;试验性醋酸去氨加压素治疗3天,多饮、多尿症状无明显改善;卵泡刺激素和黄体生成素减低,睾酮增加幅度稍低;基因检测提示精氨酸加压素受体2(AVPR2)基因纯合突变。AVPR2基因突变所致CNDI诊断明确,同时考虑伴有HH。给予调整饮食结构,低钠饮食;口服氢氯噻嗪50 mg/次、2次/天,肌肉注射绒毛膜促性腺激素2 000 IU/次、2次/周,治疗1个月后复诊,多饮、多尿症状明显改善。继续用上述药物治疗3个月后复诊,睾丸体积无明显改善,睾酮0.38 ng/m L,临床效果欠佳。给予人绒毛膜促性腺激素(2 000 IU/次、2次/周)联合人绝经期促性腺激素(75 IU/次、2次/周),治疗6个月复查睾丸体积较前增大(2 m L),睾酮水平较前升高(0.6 ng/m L),效果较好。结论 CNDI合并HH患儿临床少见,根据临床症状体征及基因筛查可明确诊断,给予调整饮食、氢氯噻嗪及促性腺激素治疗效果较好。

关键词： 糖尿病,2型   中枢性完全性尿崩症   孤立肾   双角子宫  

摘要： T2DM患者合并中枢性完全性尿崩症、双角子宫和孤立肾,国内外尚无报道,本文报告1例我院内分泌科收治的病案,这4种相对独立的疾病在发病机制上是否存在关联有待进一步研究。

关键词： Lithium   nephrogenic diabetes insipidus   hyperparathyroidism  

摘要： Lithium-associated hyperparathyroidism is the leading cause of hypercalcemia in lithium-treated patients. Lithium may lead to exacerbation of pre-existing primary hyperparathyroidism or cause an increased set-point of calcium for parathyroid hormone suppression, leading to parathyroid hyperplasia. Lithium may cause renal tubular concentration defects directly by the development of nephrogenic diabetes insipidus or indirectly by the effects of hypercalcemia. In this study, we present a female patient on long-term lithium treatment who was evaluated for hypercalcemia. Preoperative imaging studies indicated parathyroid adenoma and multinodular goiter. Parathyroidectomy and thyroidectomy were planned. During the postoperative course, prolonged intubation was necessary because of agitation and delirium. During this period, polyuria, severe dehydration, and hypernatremia developed, which responded to controlled hypotonic fluid infusions and was unresponsive to parenteral desmopressin. A diagnosis of nephrogenic diabetes insipidus was apparent. A parathyroid adenoma and multifocal papillary thyroid cancer were detected on histopathological examination. It was thought that nephrogenic diabetes insipidus was masked by hypercalcemia preoperatively. A patient on lithium treatment should be carefully followed up during or after surgery to prevent life-threatening complications of previously unrecognized nephrogenic diabetes insipidus, and the possibility of renal concentrating defects on long-term lithium use should be sought, particularly in patients with impaired consciousness.

关键词： 真武汤   肾性尿崩症   脾肾两虚  

摘要： 目的：探讨真武汤治疗肾性尿崩症的临床疗效。方法：选用2010年2月-2014年2月吉安县固江卫生院15例肾性尿崩症患者采用真武汤加味治疗,1剂/d,水煎取500 m L,分两次温服,连用3周。3周1个疗程,可连用2~3个疗程。随后用该方炼蜜为丸,每丸6 g,早上、中午各1丸,连续应用2~3个月。结果：所有患者完成了治疗并进行了随访,临床治愈14例,无效1例。结论：真武汤有温暖肾元、化生及布散津液的功能,疗效显著。

关键词： nephrogenic diabetes insipidus   aquaporin 2 gene   missense mutation   deletion mutation  

摘要： Congenital nephrogenic diabetes insipidus (CNDI) is a rare disorder caused by mutations of the arginine vasopressin (AVP) V2 receptor or aquaporin 2 (AQP2) genes. The current study presented the case of CNDI in a 1-month-old male with a novel mutation in the AQP2 gene. The patient was referred due to the occurrence of hypernatremia and mild-intermittent fever since birth. An AVP stimulation test was compatible with CNDI as there was no significant response to desmopressin. Molecular genetic analysis demonstrated two mutations in exon 1 of the AQP2 gene: C to T transition, which resulted in a missense mutation of 108Thr (ACG) to Met (ATG);and a 127, 128 delCA, which resulted in a deletion mutation of glutamine in position 43 at codon CAG as the first affected amino acid, with the new reading frame endign in a termination codon at position 62. The molecular genetic analysis of the parents showed that the missense mutation was inherited maternally and the deletion mutation was inherited paternally. The parents showed no signs or symptoms of CNDI, indicating autosomal recessive inheritance. The 108Thr (ACG) to Met (ATG) mutation was confirmed as a novel mutation. Therefore, the molecular identification of the AQP2 gene has clinical significance, as early recognition of CNDI in infants that show only non-specific symptoms, can be facilitated. Thus, repeated episodes of dehydration, which may cause physical and mental retardation can be avoided.

关键词： 干燥综合征   肾小管酸中毒   肾性尿崩症  

摘要： 干燥综合征（SS）属于弥漫性结缔组织病,起病隐匿且进展缓慢,临床容易漏诊。现将1例原发性SS合并Ⅰ型肾小管酸中毒及肾性尿崩症患者的诊治过程报道如下。

关键词： diabetes   insipidus,   nephrogeic   receptors   vasopressin   gene   mutation  

摘要： Background As an X-linked recessive way, arginine vasopressin receptor 2(AVPR2) gene mutation resulted in a hereditary disease — congenital nephrogenic diabetes insipidus(CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. Methods The clinical features of the proband and his family members were recorded. The laboratory tests and imaging inspections were analyzed. The water deprivation and pituitrin loading test were performed in the proband and his brother. The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out. Sequencing in both directions was performed to identify mutation on AVPR2 gene. Results Both the proband and his brother were diagnosed as CNDI, meanwhile the other members of this pedigree were normal. No severe biochemical abnormality was found in the two CNDI patients. Both the patients had moderate urinary retention, severe megaloureter and hydronephrosis, and mild renal insufficiency. Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients, a silent mutation L309 L and a nonsense mutation R337 X. The AVPR2 gene R337 X mutation was co-segregated with CNDI. R337 X mutation was not a reported mutation in the mainland of *** The AVPR2 gene R337 X mutation was also a genetic etiology of CNDI patients in the mainland of China.

关键词： Nephrogenic diabetes insipidus (NDI)   Arginine vasopressin (AVP)   Antidiuretic   hormone (ADH)   Urine osmolality  

摘要： Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS)] and height (+0.15 SDS) for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p. Pro(CCC) 286Leu(CTC)] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.