药源性低钾血症58例临床分析

目的探讨药源性低钾血症的疾病特点,为临床早期诊断和治疗提供依据。方法回顾分析2009年1月1日至2011年1月1日期间收治的58例药源性低钾血症住院患者的临床资料。结果本组药源性低钾血症患者中,男性25例,女性23例;年龄35～83岁,平均年龄56.8岁;胰岛素类(39.7%)导致的药源性低血钾反应居首位,其次为利尿药(20.7%)、泻药(17.2%)、抗生素(13.8%)。本组患者通过及时补钾治疗均痊愈。结论药源性低钾血症的诊断,必须具备相关药物的用药史,再结合症状、体征、血钾及心电图检查等进行综合分析判断。     

原发系膜增生性肾小球肾炎合并肾小管酸中毒一例

肾小管酸中毒是一种肾小管-间质疾病,是临床上少见的低钾血症的原因之一。目前原发系膜增生性肾小球肾炎合并肾小管酸中毒的相关报道较少。该文报道1例以反复多尿、四肢乏力10年,再发1d为主诉的34岁男性患者。该患者10年前出现夜尿多、低钾血症,尿蛋白、血白蛋白、估算肾小球滤过率均无异常。5年前出现下肢水肿、尿蛋白阳性,肾活组...     

Bartter综合征1例分析

Bartter综合征是以低钾性代谢性碱中毒为主要特征的遗传性肾小管疾病，临床少见，现就我院1例分析如下。     

Alport综合征误诊1例分析

Alport综合征是一种遗传性肾小球基底膜疾病,镜下血尿（国内患者常同时伴蛋白尿）、感音神经性耳聋和进行性肾功能减退是其临床特点Ⅲ,我院近期收治1例临床不典型Alport综合征患者,早期多次误诊,最终依靠电镜明确诊断,现报道分析如下。     

小儿慢性肾功能衰竭81例临床分析

目的:探讨小儿慢性肾功能衰竭(C R F)的临床特点。方法:对81例C R F小儿病例进行临床分析。结果:慢性肾小球疾病仍为小儿C R F的首要病因占59.3%,遗传性肾脏病和先天畸形次之占23.5%;遗传性肾脏病和先天畸形最小年龄为3d,肾小球疾病年龄最小为2岁,部分C R F患儿症状呈非特异性。结论:慢性肾小球疾病仍为小儿C R F的首要病因。定期尿筛查,监测早期肾功能有利于C R F的早期诊断与早期干预。     

遗传性痉挛性截瘫四例误诊报告

目的:总结遗传性痉挛性截瘫的临床特点及鉴别诊断要点.方法:对4例遗传性痉挛性截瘫的患者的临床资料进行分析.结果:该病是一种比较少见的家族遗传性变性疾病,多为常染色体显性遗传,少数为常染色体隐性遗传及X链锁遗传.其特征是慢性进行性双下肢无力与慢性痉挛性双下肢瘫痪,均经神经电生理检查明确诊断.结论:遗传性痉挛性截瘫临床较少见,易误诊.诊断主要基于临床症状、体征、阳性家族史,并排除其他疾病.无特异的治疗方法,对症治疗、锻炼可延缓病情的发展.     

127例低钾血症患者血钾检测结果分析

目的 探讨低钾血症病因,为相关疾病防治提供依据.方法 用电解质分析仪以直接法测定血清钾浓度,按照国际、国内诊断标准进行病因分析.结果 127例低钾血症患者中,单纯性低钾血症69例,老年慢性病26例,甲状腺功能亢进性周期性麻痹15例,药源性低血钾7例,焦虑病3例,不明原因7例.结论 低钾血症以单纯性血钾降低为主,也常继发于各种疾病,应重视血钾的监测,及时纠正血钾浓度与疾病预后密切相关.     

心电图对低钾血症的快速评价作用

目的 了解心电图(ECG)对低钾血症的快速评价作用,应用于临床急诊治疗低钾血症.方法 选取有低血钾ECG特征表现的患者130例,对照同步12导联ECG并同时查阅当时的血清K+,观察不同血清K+患者的ECG特征并进行分析.结果 130例有低血钾ECG表现患者中115例血清K+降低,ECG对低钾血症的诊断敏感度为88.5%.结论 ECG可作为快速筛查低钾血症的简捷方法 之一,ECG的特征表现对低钾血症有较高的预测价值,对临床急诊治疗低钾血症有快速、及时的指导意义.     

低钾血症52例临床分析

目的:探讨低钾血症的临床特征和诊治.方法:回顾性分析本院2006年1月至2008年6月收治的52例低钾血症患者的临床资料.结果:52例均治愈出院.结论:重视低钾血症的诱因和临床表现,及时诊治低钾血症的预后良好.     

慢性心力衰竭药源性低钾血症36例分析

为降低药源性低钾血症的发生,我们对我科2008-03— 2011-03住院的36例慢性心力衰竭(CHF)合并药探性低钾血症患者进行了回顾分析,现报告如下. 1临床资料 1.1一般资料 本组男21例,女15例,年龄25～81岁.其中风湿性心瓣膜病6例,扩张型心肌病9例,冠心病缺血性心肌病21例,按NYHA心功能分级均在Ⅲ～Ⅳ级且LVEF＜40％.     

A woman with red eyes and hypokalemia: A case of acquired Gitelman syndrome

Gitelman syndrome is a rare hereditary disorder of the thiazide-sensitive NaCl transporter in the distal renal tubular cells, but mimicking of such hereditary tubular disorders has been described in different autoimmune diseases (Sj?gren syndrome, SLE, ...). A 62-year-old woman with painful red eyes and sicca syndrome presented at the ophthalmological department. The diagnostic evaluation identified a Sj?gren syndrome with early endophthalmitis as the reason for the red eyes. Results of laboratory examination indicated severe hypokalemia, metabolic alkalosis and hypomagnesemia, although this had not been seen years earlier. Together with the urine analysis, a rare case of an acquired Gitelman syndrome was diagnosed. Substitution with potassium and magnesium improved the initial symptoms of weakness, but renal electrolyte wasting persisted even after treatment of Sj?gren syndrome. In patients with autoimmune disease, laboratory analysis of serum electrolytes should be performed because different acquired tubular disorders can lead to severe hypokalemia.     

血镁正常的Gitelman综合征1例及文献复习

目的 探讨Gitelman综合征的临床特点,评价血镁在鉴别Gitelman综合征和Bartter综合征中的价值。方法 回顾性分析河北医科大学第二医院内分泌科收治的1例正常血镁的Gitelman综合征患者的临床表现、诊疗过程及结局,并进行相关文献复习。结果 患者临床表现为低钾血症、代谢性碱中毒、正常血镁、低血压及肾素-血管紧张素-醛固酮系统活化,经基因检测明确Gitelman综合征的诊断。结论 Gitelman综合征表型存在异质性,基因型-表型研究尚不完善。以低镁血症区分Gitelman综合征和Bartter综合征是不严谨的,应进一步行基因检测明确诊断。     

误诊为干燥综合征的Gitelman综合征一例

该文报道1例38岁女性患者,反复低钾血症伴碱性尿、尿钾升高,多次查抗核抗体及抗干燥综合征A（SSA）抗体阳性,外院曾疑诊为干燥综合征合并Ⅰ型远端肾小管酸中毒。但患者无明显口干、眼干表现,进一步检查非刺激唾液流率、角膜荧光染色、Schirmer泪液分泌试验及唇腺活组织检查结果均为阴性,故不支持干燥综合征的诊断;患者的代谢...     

类Gitelman综合征发病机制的研究进展

Gitelman-like综合征与Gitelman综合征(GS)的临床表现一样,是以低钾性碱中毒和低镁血症为特征。Gitelman 综合征是一种由于编码位于肾远曲小管的噻嗪类利尿剂敏感的钠氯共转运蛋白基因突变的低钾失盐性肾小管疾病,又名家族性低钾低镁血症。但仍有10%左右的临床诊断为GS,却未能检测到致病疾病的突变。专家们对于临床表现相似的、但未检测到基因致病突变的这这些患者定义为Gitelman-like 综合征,这些患者往往存在非遗传因素或线粒体DNA的突变如异亮氨酸和苯丙氨酸的突变。     

Early diagnosis of Gitelman syndrome in a young child: A case report

BACKGROUNDGitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by renal wasting hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is usually caused by mutations in the gene SLC12A3, which encodes the thiazide-sensitive Na-Cl cotransporter. GS is not usually diagnosed until late childhood or adulthood.CASE SUMMARYHere, we report the case of a one-year-old girl who was brought to the emergency department due to persistent vomiting for two days. On admission to our hospital, generalized weakness was observed, and laboratory investigations revealed severe hypokalemia (1.9 mmol/L). However, persistent hypokalemia was observed during outpatient follow-up. Suspicion of the GS phenotype was assessed via the patient’s clinical presentation, family history, and biochemical analysis of blood and urine. Further genetic analysis was performed for her and her family by exon-wide sequencing analysis of the gene SLC12A3. The genetic diagnosis of GS was established in the Taiwanese family with three affected individuals, two of whom were children (7 years/17 years) without obvious symptoms, with the youngest being only one year old (patient in our case).CONCLUSIONWe successfully demonstrated the early diagnosis of GS using family genetic analysis. Any instances of hypokalemia should not be neglected, as early detection of GS with suitable treatment can prevent patients from potentially life-threatening complications.     

Unusual cause of hypokalemic paralysis in aged men: Sjögren syndrome

Hypokalemic paralysis is a less recognized but reversible disorder in elderly patients. This report describes two elderly Chinese males (age 74 and 78 years) who had progressive muscle weakness and eventually paralysis. Physical examination showed symmetrical flaccid paralysis of extremities. Both had the major biochemical abnormality of profound hypokalemia (1.4 and 1.8 mmol/L) accompanied by high urine K+ excretion and hyperchloremic metabolic acidosis. A positive urine anion gap and alkaline urine pointed to the diagnosis of distal renal tubular acidosis. Large doses of potassium chloride supplementation were required to restore muscle strength. Pertinent investigations, including elevated titers of antinuclear antibody and rheumatoid factor, positive anti-Ro antibody, low serum C3 and C4 levels, and delayed saliva excretion on salivary scintigraphy suggested Sj?gren syndrome. Despite the lack of sicca syndrome at the initial presentation, both had development of typical sicca syndrome and positive Schirmer test at the 5-month and 1-year follow-up, respectively. Potassium citrate supplement and prednisolone therapy completely corrected the hypokalemia and metabolic acidosis. Extraglandular involvement with distal renal tubular acidosis preceding the typical sicca syndrome may induce hypokalemic paralysis and unveil Sj?gren syndrome in elderly males.     

Bartter综合征8例临床分析

目的探讨Bartter综合征的临床诊断及治疗。方法对8例成人Bartter综合征的临床资料进行回顾性分析。结果8例成人Bartter综合征患者均表现为乏力,其特征为低血钾,代谢性碱中毒,血清肾素活性、血管紧张素Ⅱ及醛固酮水平升高,而血压正常,肾活检提示肾小球旁器细胞增生。补钾是主要治疗措施。结论成人出现双下肢乏力,低血钾,高尿钾而血压正常时需考虑到本病,行醛固酮检测可帮助诊断,必要时行肾穿刺活检。治疗上包括补钾、补镁、醛固酮拮抗剂、前列腺素合成酶抑制剂等。     

Hypokalemic paralyses: a review of the etiologies, pathophysiology, presentation, and therapy.

Acute hypokalemic paralysis is an uncommon cause of acute weakness. Morbidity and mortality associated with unrecognized disease include respiratory failure and death. Hence, it is imperative for physicians to be knowledgeable about the causes of hypokalemic paralysis, and consider them diagnostically. The hypokalemic paralyses represent a heterogeneous group of disorders with a final common pathway presenting as acute weakness and hypokalemia. Most cases are due to familial hypokalemic paralysis; however, sporadic cases are associated with diverse underlying etiologies including thyrotoxic periodic paralysis, barium poisoning, renal tubular acidosis, primary hyperaldosteronism, licorice ingestion, and gastrointestinal potassium losses. The approach to the patient with hypokalemic paralysis includes a vigorous search for the underlying etiology and potassium replacement therapy. Further therapy depends on the etiology of the hypokalemia. Disposition depends on severity of symptoms, degree of hypokalemia, and chronicity of disease.     

SLC12A3基因突变Gitelman综合征并身材矮小1例临床分析

Gitelman综合征（Gitelman syndrome,GS）又被称为家族性低钾低镁血症,是一种以低钾低氯性碱中毒、低镁血症、低尿钙、高肾素活性为特征的常染色体隐性遗传的失盐性肾小管疾病,血压可正常或偏低。大多数患者经过“食补+药物”替代治疗有良好的预后,早期发现并予相应治疗,可显著提高患者生活质量。现将西安市儿童医院收治的1例Gitelman综合征并身材矮小患者临床资料及诊疗过程,结合相关文献学习,做如下报道。