成人Bartter综合征合并慢性肾功能不全急性加重1例

目的 通过分析1例成人Bartter综合征合并慢性肾功能不全急性加重病例,探究Bartter综合征的发病、治疗及预后。方法 选取甘肃省人民医院肾内科住院患者1例,回顾性分析其临床资料、治疗与转归,并进行讨论。结果 本例患者表现为低钾血症、代谢性碱中毒、高肾素血症、高醛固酮血症,合并慢性肾功能不全急性加重,除外其他继发性醛固酮增多症的病因后,完善肾穿刺活检及基因检测,证实了Bartter综合征Ⅲ型的诊断。明确诊断后给予血液透析,螺内酯,补钾治疗后血钾恢复正常,肾功能明显好转。结论 Bartter综合征起病隐匿,长期的低钾血症以及高肾素血症等因素可能会引起肾小管间质性肾炎及肾小球病变,确诊后需及时进行补钾、保钾等一系列治疗。     

成人Bartter综合征4例分析

现将我们临床所遇成人Bartter综合征4例分析如下。 1临床资料 1．1一般资料本组男1例，女3例，年龄20～29岁。病程6个月～5a。4例均以反复四肢乏力、麻木、抽搐为首发症状。均有低血钾症状，代谢性碱中毒，尿比重正常。尿钠、钾、氯化物排出增加。血肾素-血管紧张素Ⅱ-血醛固酮明显升高等症状。     

1例典型Bartter综合征病人的护理

Bartter综合征(Bartter syndrome,BS)是以代谢性碱中毒、低血钾、血压正常、血浆肾素-血管紧张素-醛固酮增高、肾穿刺示进球旁器增生为特征的综合征,是一种较为罕见的常染色体隐性遗传病;临床表现主要为肌无力、周期性麻痹、心律失常、呼吸肌麻痹等低血钾症状及烦渴、夜尿增多、骨质疏松等[1].     

Bartter综合征临床分析

目的:探讨Bartter综合征(BS)的临床特点、诊断及治疗.方法:对15例BS患者的临床资料进行回顾性分析.结果:15例中,男7例,女8例,其中儿童2例,年龄分别为4个月、3岁8个月,病程6d及5d;余13例年龄(33±15)岁,病程(32±8)个月.2例儿童以呕吐为主要症状,余13例以乏力为主要症状,伴手足抽搐,口干、多尿、夜尿增多等;实验室检查表现包括有低钾血症(15/15),低镁血症(7/9),代谢性碱中毒(6/15);血肾素活性、血管紧张素及醛固酮明显升高,而血压正常;肾脏病理学检查表现为肾小球旁器增生(2/3);予补钾、补镁联合吲哚美辛、安体舒通、ACEI等治疗后,15例临床症状明显缓解.结论:BS是一种罕见的肾小管疾病,以肾性低钾,代谢性碱中毒,高肾素、高醛固酮血症为主要临床特点,可伴有低钠、低氯、低镁血症,目前发病机制尚不完全明确,不可治愈,治疗以对症治疗为主,坚持长期服药,预后良好.     

Bartter综合征35例综合报道

Bartter综合征是一种极罕见的疾病。本文收集本院 1例及全国其他 3 4例 ,进行综合分析。发现儿童期发病与成人基本相等 ,儿童以男性为多 (66 7% ) ,成人则以女性为多 (82 3 % )。特点有 :(1)水、电解质及酸碱失衡 ,包括低钾、钠血症、低氯性碱中毒及脱水等 ;(2 )血肾素、血管紧张素Ⅱ及醛固酮等均明显升高 ,而血压正常 ;(3 )生长发育迟滞在儿童最为突出 (84 6% ) ,其中 4例有智力低下 ;(4) 14例肾活检肾脏病变除肾小球旁器增生 ,还有肾小管间质及肾小球损害 ;(5 )以吲哚美辛、螺内酯及补钾等综合治疗效果显著。结合病理、伴发疾病、症状及实验室检查等分析发现 ,成人以后天获得性为多 ,而儿童大多为特发性。     

低钾血症中遗传性肾小管疾病的临床特点分析

目的 探讨不同病因所致低钾血症的临床特点及治疗预后,提高遗传性肾小管疾病的诊治水平。方法 回顾性分析山东第一医科大学附属省立医院小儿内分泌综合科病房收治低钾血症患者,排除胃肠道失钾和营养不良的易辨识因素,收集临床病例资料。部分患者进行基因检测,对遗传性肾小管疾病的临床特点进行分析。结果 低钾血症患者65例,男29例,女36例。共有47例属于遗传性肾小管疾病,包括Bartter综合征(23例)、肾小管酸中毒(14例)、Gitelman综合征(8例)、范可尼综合征(2例)。10例患者行基因检测,明确致病变异9例,包括新发变异1例。Bartter综合征为低血钾、低血钠、低氯代谢性碱中毒;Gitelman综合征生化表现为低血钾低氯;肾小管酸中毒表现为低钾高氯酸中毒。Bartter综合征发病年龄最小,其次是肾小管酸中毒,Gitelman综合征多为年长儿。Bartter综合征最常见的就诊症状为胃肠道不适、多饮多尿、生长迟缓,Gitelman综合征以胃肠道症状、生长迟缓为主要就诊原因,肾小管酸中毒患者多以四肢乏力、生长迟缓为主要就诊症状。经治疗,遗传性肾小管疾病患儿预后较好,多数实现生化正常和生长追赶。结论 遗传性肾小管疾病是低钾血症的常见病因,具有不同临床和生化特点,基因检测有助于确诊,长期治疗随访有助于改善预后。     

成人巴特综合征3例分析

Bartter综合征国外于1962年首次文献报道，临床较为罕见，我国1979年首次报道，该病以低钾性代谢性碱中毒，伴高肾索、高醛固酮血症，但无高血压及水肿为特征，肾脏病理可见肾小球旁器增生肥大，故又称肾小球旁器增生症，亦有认为只要血浆肾素持续分泌增加，又具有其他诊断依据，虽无肾活检也可作出Bartter综合征诊断。笔者就近1a诊治过的3例分析如下。     

假性醛固酮增多症一家系报告

假性醛固酮增多症一家系报告浙江洞头县医院（３２５７００）林加锋假性醛固酮增多症，又名Ｌｉｄｄｌｅ综合征，临床罕见，本文报告一家系３例。病例报告１．先证者：男，２７岁。因反复头晕、乏力５年，在外院检查发现高血压低血钾，经降压和补钾治疗无效，疑为“原发性...     

内分泌疾病伴低血钾临床分析

目的分析内分泌疾病致低血钾、血钾浓度与临床表现、心电图变化的相关性,并观察补钾治疗后血钾和心电图恢复情况.方法观察42例内分泌疾病引起低血钾临床表现的患者血钾浓度与心电图变化的关系,其中24例全程跟踪补钾治疗中及治疗后的临床表现、血清钾浓度和心电图变化.结果42例低血钾患者临床表现为乏力(以双下肢为重)、心悸、胸闷,严重低血钾者表现为四肢软瘫及肌肉酸痛.血钾浓度为(2.60±0.55)mmol/L,心电图低血钾改变与血清钾生化测定符合率为88.2%,血清钾＜2.5 mmol/L时,两者符合率为100%.11例原发性醛固酮增多症患者入院时血钾(2.54±0.6)mmol/L;补钾治疗40h后血钾(3.35±0.44)mmol/L,血钾浓度、临床表现及心电图恢复正常时间较长.8例糖尿病酮症酸中毒或糖尿病合并高血压患者入院时血钾(2.58±0.42)mmol/L;补钾治疗40 h后血钾(3.72±0.17)mmol/L,血清钾浓度、临床表现及心电图恢复正常所需时间也较长.5例甲亢周期性麻痹患者入院时血钾最低,为(1.75±0.60)mmol/L;补钾治疗15 h后血钾(3.55±0.53)mmol/L,血清钾浓度、临床表现及心电图恢复正常需要的时间较原发性醛固酮增多症组或糖尿病酮症酸中毒组短.结论低血钾的临床表现、与血清钾浓度以及心电图改变之间没有明显相关性.临床表现除与低钾血症的严重程度有关外,还与低钾血症发生的急缓有关.心电图能较好地反映低血钾的严重程度.内分泌疾病所致低血钾因病因不同而出现不同程度的临床表现及心电图变化,且经补钾治疗后恢复正常所需时间也不同.补钾需补至血清钾浓度和心电图恢复正常为止.     

巴特综合征的诊断与治疗

1引言 巴特综合征(Bartter syndrome,BS)是指一组临床以低钾血症和代谢性碱中毒为特征的遗传性肾小管疾病.因1962年由Bartter等人首先报道了两例出现低钾性代谢性碱中毒、高醛固酮血症、血压正常,肾组织学检查显示肾小球旁器肥大的患者而得名.至20世纪90年代国外已报道包括成人及儿童在内共200余例.我国1979年首次发现本病,至今文献报道不足100例.由于BS非常少见,加上临床医师认识不足,误诊漏治者有之,甚至幼年发病,成年后才被确诊,时间长达几年、十几年,最长达40年.有终生无法确诊,漏治而死亡者.估计实际发病人数远较文献报道为多.因此,提高对本病的认识、诊断和治疗水平,实为当务之急.     

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。     

Recurrent ventricular fibrillation related to hypokalemia in early repolarization syndrome

We describe a case of early repolarization syndrome in which augmented J waves were documented during an electrical storm associated with hypokalemia. The patient was referred to our hospital for therapy to treat recurrent ventricular fibrillation (VF). The 12-lead electrocardiogram showed giant J waves associated with hypokalemia during multiple episodes of VF. Although antiarrhythmic agents or deep sedation were not effective for the VF, an intravenous supplementation of potassium completely suppressed the VF with a reduction in the J-wave amplitude. Our report discusses the possible relationship between hypokalemia and VF in early repolarization syndrome. (PACE 2012; 35:e234-e238).     

急性心肌梗死行介入治疗术后低血钾原因分析及护理

目的探讨急性心急梗死冠脉介入术后患者低钾血症发生原因,并总结护理要点。方法观察分析96例急性心肌梗死行冠脉介入患者术后发生低血钾情况及原因。结果 57例发生低钾血症,发生率为59.4%(57/96),给予饮食补钾、口服补钾、雾化吸入补钾及静脉补钾后,患者血钾恢复正常。低钾血症发生与术后摄入不足、排出过多、分布异常及造影剂的使用有关。结论急性心肌梗死介入治疗后患者较易发生低钾血症,术后应密切观察患者病情变化情况,针对原因采取多种补钾方式纠正患者低钾血症。     

Clinical perspectives on the rationale for potassium supplementation

Hypokalemia is a common electrolyte disturbance, observed in > 20% of hospitalized patients. Hypokalemia, although not formally defined, is generally considered to be when serum potassium levels fall below the normal value of 3.6 mmol/L. In contrast to other electrolytes, potassium is primarily an intracellular ion: only 2% of all potassium in the body is present in the extracellular fluid, so a small decrease in serum potassium may represent a significant decrease in intracellular potassium. Individuals with mildly decreased potassium levels (3.0–3.5 mmol/L) may be asymptomatic, but patients with more pronounced decreases may report symptoms including muscle weakness, fatigue, and constipation. Very low serum potassium levels (≤ 2.5 mmol/L) can lead to muscle necrosis, paralysis, cardiac arrhythmias, and impaired respiration, which can be life-threatening. Absent comprehensive and robust treatment guidelines, strategies for the prevention or treatment of hypokalemia, such as how to diagnose hypokalemia, when to treat patients, what dosage regimen of potassium supplementation to use and for how long, are often based on the experience of the physician and empirical evidence. However, proper evaluation and treatment of hypokalemia in patients is essential because of associated morbidities. Because small potassium deficits in serum represent large body losses, potassium repletion requires substantial and prolonged supplementation. For patients with known risk factors for hypokalemia (e.g. hypertension, heart failure, or diabetes), careful monitoring is crucial to avoid the adverse sequelae associated with potassium deficits and to ensure that adequate and timely preventive measures can be taken. In this review, we provide practical insights into the etiology, differential diagnosis, and treatment of hypokalemia, including treatment strategies for patients with known risk factors.     

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.     

50例Gitelman综合征患者临床特征和药物治疗分析

目的 总结Gitelman综合征(Gitelman syndrome,GS)患者的临床特征及药物治疗情况,以提高临床诊疗水平.方法 回顾性分析2007年1月至2019年12月北京协和医院临床诊断为GS且住院治疗患者的临床资料.对其临床表现、实验室检查、肾穿刺活检病理特征以及药物治疗情况进行归纳,并根据是否使用螺内酯,分...     

Potential Usefulness of Early Potassium Supplementation for Preventing Severe Hypokalemia Induced by Liposomal Amphotericin B in Hematologic Patients: A Retrospective Study

Purpose

Liposomal amphotericin B (L-AMB) is an essential antifungal agent for patients with hematologic diseases; however, the drug causes severe hypokalemia at a high frequency. Meanwhile, there is little evidence regarding the risk factors for L-AMB–induced severe hypokalemia, and the prevention protocol has not been established. The goal of this study was to identify the risk factors related to severe hypokalemia induced by L-AMB in hematologic patients.

Hypokalemia, hyperglycemia, and acidosis after intentional theophylline overdose

Three cases of intentional theophylline overdose in adult patients are described. Among these, hypokalemia, hyperglycemia, and acidosis were found, and markedly elevated initial serum theophylline concentrations (106, 76.2, and 41.4 micrograms/ml) were measured. All patients recovered completely with conservative management. The observed biochemical abnormalities rapidly resolved during maintenance fluid therapy and modest potassium supplementation. In addition, seizures, ventricular arrhythmias, and other serious toxic effects were notably absent.     

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...