以发热为表现的婴儿先天性肾性尿崩症1例

报道1例以发热为突出表现的先天性肾性尿崩症患儿的诊治过程。患儿7个月, 因间断发热入院, 感染相关实验室指标、病原学及影像学检查基本正常, 血钠明显升高。禁水试验及垂体加压素试验提示为肾性尿崩症。经基因检测, 诊断为先天性肾性尿崩症。     

110例乳腺癌患者HER-2基因扩增状况及其与临床病理特征的关系

目的在蛋白及基因水平检测乳腺癌中HER-2的表达,比较免疫组化（IHC）及荧光原位杂交（FISH）法检测结果,探讨其与乳腺癌患者的临床病理特征关系。方法应用免疫组化及荧光原位杂交法测定HER-2蛋白表达及基因扩增,并分析其与乳腺癌患者临床病理特征的相关性。结果与FISH的一致性在IHC检测HER-2（＋＋＋）和HER-2（＋/-）组较好,Kappa值=0.444,两者一致率为72.2%,而在HER-2（＋＋）组一致性较差。110例乳腺癌患者中,FISH检测有77例（70.0%）HER-2基因扩增。IHC法HER-2（＋＋＋）4例中全部有HER-2基因扩增;HER-2（＋＋）92例中有68例（73.9%）HER-2基因扩增;HER-2（＋/-）14例中有5例（35.7%）HER-2基因扩增。94例浸润性导管癌中66例（70.2%）有HER-2基因扩增,7例浸润性小叶癌中有4例（57.1%）HER-2基因扩增,9例其他肿瘤类型中有4例（44.4%）HER-2基因扩增。不同病理类型及浸润性导管癌的组织学分级间HER-2基因扩增阳性率差异无统计学意义（P〉0.05）。HER-2基因扩增与ER、PR阴性状态有相关性（P〈0.05）,与患者是否绝经无相关性（P〉0.05）。结论在HER-2（＋＋＋）和HER-2（＋/-）中常可以用IHC代替FISH检测HER-2基因扩增状况,而对于HER-2（＋＋）则应常规进行FISH检测。HER-2基因扩增状况与绝经、病理类型及浸润性导管癌组织学分级无相关性,与ER、PR表达呈负相关。HER-2基因可作为判断乳腺癌预后及拟订治疗方案的良好指标。     

儿童中枢性尿崩症的MRI诊断

儿童中枢性尿崩症的ＭＲＩ诊断刘岿然陈丽英１（第二临床学院妇产科，沈阳１１０００３）关键词中枢性尿崩症；垂体；磁共振成像尿崩症是由于抗利尿激素（ＡＤＨ）分泌不足或肾脏对ＡＤＨ不反应所致，按发病部位分为中枢性和肾性两类。中枢性尿崩症主要是由于下丘脑或垂体...     

急性肾衰并发肾性尿崩症27例分析

尿崩症有垂体及肾性之分 ,临床上以后者多见 ,其原因较多。ＡＲＦ多尿期引起尿量增多的原因有很多 ,当每天尿量达到 35 0 0ｍｌ以上 ,达肾性尿崩症的尿量[1] ,如果尿的渗透压为低渗尿 ,为肾性尿崩症。现总结我院 1996年到 2 0 0 0年共 12 8例ＡＲＦ的患者 ,共有 2 7例并发肾性尿崩症的情况1 　材料与方法材料来源 :广义的ＡＲＦ(急性肾衰综合症 )的诊断标准 :是指由多种病因引起的肾功能在短时间内急骤恶化 ,血肌酐和尿素氮水平与日俱增 ,平均每日肌酐增加≥ 88.4ｕｍｏｌ/Ｌ(≥ 1.0ｍｇ/ｄｌ)或血尿素氮增加≥ 3.5 7ｍｍｏｌ/Ｌ(10ｍｇ/ｄ…     

鼻咽刷洗物MSH2基因甲基化在鼻咽癌早期诊断及预后判断中的作用

目的 探讨鼻咽刷洗物检测MSH2基因甲基化在鼻咽癌早期诊断及预后判断中作用.方法 运用甲基化特异性PCR检测54例鼻咽癌患者、18例慢性鼻咽炎患者和20例健康志愿者配对鼻咽部组织及鼻咽刷洗物中MSH2基因启动子区甲基化情况.结果 鼻咽癌患者鼻咽部癌组织MSH2基因甲基化频率75.9％ (41/54),鼻咽刷洗物70.4％ (38/54);而在慢性鼻咽炎患者和健康志愿者鼻咽部组织及鼻咽刷洗物中均未检测到MSH2基因启动子甲基化.鼻咽癌组织与鼻咽刷洗物中MSH2基因甲基化密切相关(r=0.87),MSH2基因甲基化与患者临床病理特征无明显相关关系.结论 鼻咽刷洗物检测MSH2基因甲基化具有肿瘤特异性,对早期诊断鼻咽癌有一定的临床应用价值,但目前尚不能作为判断鼻咽癌临床预后预测指标.     

先天性X连锁肾性尿崩症继发早发痛风的1个家系报道

目的探讨先天性肾性尿崩症（CNDI）继发早发痛风的可能机制及其治疗策略。方法以2019年3月建德市第一人民医院收治的1例24岁男性患者为研究对象,患者烦渴、多饮、多尿24年,反复多关节红、肿、痛6年。入院后予系统实验室检查和影像学检查以明确诊断并给予治疗。结果患者行全外显子基因检测发现携带AVPR2半合子突变（c:316C＞T,p.Arg106Cys）,来源于母亲,最终诊断为CNDI继发早发痛风,予氢氯噻嗪联合非布司他治疗后,尿量及夜尿次数明显减少,痛风未再发作。结论CNDI诊断容易延误,基因检测将为诊治CNDI和预估病情提供重要的依据。CNDI继发早发痛风非常罕见,主要机制为患者尿酸排泄减少,因氢氯噻嗪可加重高尿酸血症,造成CNDI继发痛风治疗棘手。     

MRI表现为垂体后叶高信号消失的先天性肾性尿崩症1例

报道1例影像学表现为中枢性尿崩症的先天性肾性尿崩症患儿诊治经过。患儿因反复发热、呕吐于院外对症治疗后无明显好转, 后因再次发热就诊, 入院后发现血钠升高, 多饮多尿, 诊断为尿崩症。头颅MRI提示垂体后叶高信号消失, 予以去氨加压素对症治疗后疗效欠佳, 经基因检查提示先天性肾性尿崩症。     

生殖器疱疹患者HSV-2和anti—HSV-2检测的临床意义

目的探讨生殖器疤疹（GH）患者HSV-2PCR及HSV-2抗体（包括IgG、IgM）检测的临床意义，评价其对GH诊断的重要性和实用性。方法对182例生殖器部位有皮损的现症GH患者检测HSV-2PCR及HSV-2抗体（包括IgG、IgM）。结果HSV-2PCR阳性检测率为90．6％（165／182），明显高于HSV-2IgG阳性检测率68．7％（125／182）和HSV-2IgM阳性检测率为14．3％（26／128）；初发患者HSV-2PcR阳性检测率为89．7％（61／68）明显高于HSV-2IgG阳性检测率39．7％（27／68）和HSV-2IgM阳性检测率25％（17／68）；复发患者HSV-2PCR阳性检测率为95．6％（109／114），HSV-2IgG阳性检测率为100％（114／114），两者几无差别，而HSV-2IgM阳性检测率为0；23例皮损不明显患者HSV-2IgG阳性检测率为78．3％（18／23），明显高于HSV-2PCR阳性检测率26％（6／23）和HsV-2IgM阳性检测率13％（3／23）。结论HSV-2PCR检测法对有典型临床症状如水疱和糜烂的GH阳性率高、诊断价值大，对临床症状不典型者阳性率低；HSV-2IgG检测对无皮损和无症状的患者有较大的诊断价值；HSV-2IgM对诊断GH感染的价值不大。     

NPHS2基因C（-601）T-C357T单倍型与IgA肾病的相关分析

目的：本研究充分利用大样本病人探讨NPHS2基因C（-601）T-C357 T单倍型对IgA肾病的影响。方法：选择经肾活检病理诊断确诊的原发性IgA肾病患者537例及年龄、性别、地域匹配的健康对照组494例,采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）方法检测NPHS2基因C（-601）T、C357 T多态性,同时选取单纯血尿和大量蛋白尿的IgA患者各16例进行PCR产物测序,对酶切结果进行验证。结果：①IgA肾病患者和健康对照中NPHS2基因C（-601）T、C357T基因型和等位基因频率分布均符合Hardy-Weinberg平衡定律（P〉0.05）。②将NPHS2基因C（-601）T、C357T多态性构建单倍型,发现NPHS2基因T-T单倍型在IgA肾病患者中的比例较健康对照组明显增高（0.062759 vs 0.1032438,P=0.00198）。结论：本研究发现T-T单倍型在IgA肾病患者中的比例明显增高,提示NPHS2基因T-T单倍型对临床IgA肾病的发生及严重程度具有重要作用,为IgA肾病遗传背景的研究以及进一步阐明NPHS2基因的功能均提供了重要线索。     

β2-微球蛋白在肿瘤诊断中的应用

目的：探讨血清β2-微球蛋白（β2-MG）测定对常见恶性肿瘤辅助诊断的临床价值.方法：采用放射免疫分析法对100例恶性肿瘤患者进行血清β2-MG检测.结果：表明恶性肿瘤患者血清β2-MG明显高于正常值,与正常组比较有显著性差异（P〈0.01）.结论：β2-MG虽不是肿瘤特异性标志物,但确系有价值的辅助诊断指标,对提高临床检测水平有实用价值.     

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.     

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.     

Hyperosmolar nonketotic coma precipitated by lithium-induced nephrogenic diabetes insipidus.

A 45-year-old man, with a 10-year history of manic depression treated with lithium, was admitted with hyperosmolar, nonketotic coma. He gave a five-year history of polyuria and polydipsia, during which time urinalysis had been negative for glucose. After recovery from hyperglycaemia, he remained polyuric despite normal blood glucose concentrations; water deprivation testing indicated nephrogenic diabetes insipidus, likely to be lithium-induced. We hypothesize that when this man developed type 2 diabetes, chronic polyuria due to nephrogenic diabetes insipidus was sufficient to precipitate hyperosmolar dehydration.     

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。     

The renal concentrating mechanism and the clinical consequences of its loss

The integrity of the renal concentrating mechanism is maintained by the anatomical and functional arrangements of the renal transport mechanisms for solute (sodium, potassium, urea, etc) and water and by the function of the regulatory hormone for renal concentration, vasopressin. The discovery of aquaporins (water channels) in the cell membranes of the renal tubular epithelial cells has elucidated the mechanisms of renal actions of vasopressin. Loss of the concentrating mechanism results in uncontrolled polyuria with low urine osmolality and, if the patient is unable to consume (appropriately) large volumes of water, hypernatremia with dire neurological consequences. Loss of concentrating mechanism can be the consequence of defective secretion of vasopressin from the posterior pituitary gland (congenital or acquired central diabetes insipidus) or poor response of the target organ to vasopressin (congenital or nephrogenic diabetes insipidus). The differentiation between the three major states producing polyuria with low urine osmolality (central diabetes insipidus, nephrogenic diabetes insipidus and primary polydipsia) is done by a standardized water deprivation test. Proper diagnosis is essential for the management, which differs between these three conditions.     

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。     

A non-invasive test for receptor binding applied to nephrogenic diabetes insipidus.

Studies in animals have determined the importance of specific receptors to the action of many hormones and drugs. In man, a non-invasive external counting technique has been used and absence of receptor function has been demonstrated in a patient with nephrogenic diabetes insipidus using radioactively labelled arginine vasopressin. This is in contrast to the findings in a patient with pituitary diabetes insipidus and a normal control. These results suggest a model for the study of hormone and drug kinetics in man avoiding multiple samplings of biological fluids.     

Idiopathic hypergammaglobulinaemia associated with nephrogenic diabetes insipidus and distal renal tubular acidosis.

Renal tubular dysfunction may be recognized in patients suffering from urinary light chain disease or non-myelomatous hypergammaglobulinaemia. We report a patient who has the combination of distal renal tubular acidosis and nephrogenic diabetes insipidus in association with hypergammaglobulinaemia due solely to increased IgG. We postulate that the abnormalities of distal nephron function resulted from cell-mediated immune damage.     

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。     

Mitochondrial gene mutations and type 2 diabetes in Chinese families

Background Numerous mitochondrial DNA mutations are significantly correlated with development of diabetes. This study investigated mitochondrial gene, point mutations in patients with type 2 diabetes and their families.
Methods Unrelated patients with type 2 diabetes （n=826） were randomly recruited; unrelated and nondiabetic subjects （n=637） served as controls. The clinical and biochemical data of the participants were collected. Total genome was extracted from peripheral leucocytes. Polymerase chain reaction, restriction fragment length poiymorphism （PCR-RFLP） and cloning techniques were used to screen mitochondrial genes including np3316, np3394 and np3426 in the ND1 region and np3243 in the tRNA^Leu（UUR）.
Results In 39 diabetics with one or more mitochondrial gene point mutations, the prevalence （4.7%, 39/826） of mtDNA mutations was higher than that （0.7%, 5/637） in the controls. The identical mutation was found in 23 of 43 tested members from three pedigrees. Affected family members presented with variable clinical features ranging from normal glucose tolerance to impaired glucose tolerance （IGT） （n=2）, impaired fasting glucose （IFG） （n=1） to type 2 diabetes （n=13） with 3 family members suffering from hearing loss.
Conclusions Type 2 diabetes in China is associated with several mitochondrial gene mutations. Aged patients with diabetic family history had a higher prevalence of mutation and various clinical pictures. Mitochondrial gene mutation might be one of the genetic factors contributing to diabetic familial clustering.