Risk Factors Asscociated with Hypokalemia during Postanesthesia Recovery and Its Impact on Outcomes in Gynecological Patients:A Propensity Score Matching Study

Objective:This study aimed to explore the risk factors and outcomes of hypokalemia during the recovery period from anesthesia in the gynecological population.Methods:This retrospective cohort study included 208 patients who underwent gynecological surgery at our institution between January 2021 and March 2022.Data were collected for each patient,including demographics,disease status,surgical data,and clinical information.Preoperative bowel preparation,postoperative gastrointestinal function,and electrolyte levels were compared between the two groups using propensity score matching(PSM).Results:The incidence of hypokalemia(serum potassium level<3.5 mmol/L)during the recovery period from anesthesia was approximately 43.75%.After PSM,oral laxative use(96.4%vs.82.4%,P=0.005),the number of general enemas(P=0.014),and the rate of≥2 general enemas(92.9%vs.77.8%,P=0.004)were identified as risk factors for hypokalemia,which was accompanied by decreased PaCO_(2) and hypocalcemia.There were no significant differences in postoperative gastrointestinal outcomes,such as the time to first flatus or feces,the I-FEED score(a scoring system was created to evaluate impaired postoperative gastrointestinal function),or postoperative recovery outcomes,between the hypokalemia group and the normal serum potassium group.Conclusion:Hypokalemia during postanesthesia recovery period occurred in 43.75%of gynecological patients,which resulted from preoperative mechanical bowel preparation;however,it did not directly affect clinical outcomes,including postoperative gastrointestinal function,postoperative complications,and length of hospital stay.

One Case of Primary Thrombocythemia with Concealed Hypokalemia Complicated by Acute Myocardial Infarction

Medical history summary: Male, 47 years old, was admitted to the hospital due to “dizziness accompanied by chest tightness and pain for more than 8 days”. One week ago, the patient experienced chest tightness, chest pain accompanied by profuse sweating for 3 hours and underwent emergency percutaneous coronary intervention (PCI) at a local hospital. The procedure revealed left main stem occlusion with subsequent left main stem to left anterior descending artery percutaneous transluminal coronary angioplasty (PTCA). After the procedure, the patient experienced hemodynamic instability, recurrent ventricular fibrillation, and critical condition, thus transferred to our hospital for further treatment. Symptoms and signs: The patient is in a comatose state, unresponsive to stimuli, with bilateral dilated pupils measuring 2.0 mm, exhibiting reduced sensitivity to light reflex, and recurrent fever. Coarse breath sounds can be heard in both lungs, with audible moist rales. Irregular breathing pattern is observed, and heart sounds vary in intensity. No pathological murmurs are auscultated in any valve auscultation area. Diagnostic methods: Coronary angiography results at the local hospital showed complete occlusion of the left main stem, and left main stem to left anterior descending artery percutaneous transluminal coronary angioplasty (PTCA) was performed. However, the distal guidewire did not pass through. After admission, blood tests showed a Troponin T level of 1.44 ng/ml and a Myoglobin level of 312 ng/ml. The platelet count was 1390 × 109/L. Von Willebrand factor (vWF) activity was measured at 201.9%. Bone marrow aspiration biopsy showed active bone marrow proliferation and platelet clustering. The peripheral blood smear also showed platelet clustering. JAK-2 gene testing was positive, confirming the diagnosis of primary thrombocytosis. Treatment methods: The patient is assisted with mechanical ventilation and intra-aortic balloon counterpulsation to improve coronary blood flow. Electrolyte levels are closely monitored, especially maintaining plasma potassium levels between 4.0 and 4.5 mmol/l. Hydroxyurea 500 mg is administered for platelet reduction. Anticoagulants and antiplatelet agents are used rationally to prevent further infarction or bleeding. Antiarrhythmic, lipid-lowering, gastroprotective, hepatoprotective, and heart failure treatment are also provided. Clinical outcome: The family members chose to withdraw treatment and signed for discharge due to a combination of reasons, including economic constraints and uncertainty about the prognosis due to the long disease course. Acute myocardial infarction has gradually become one of the leading causes of death in our country. As a “green channel” disease, corresponding diagnostic and treatment protocols have been established in China, and significant progress has been made in emergency care. There are strict regulations for the time taken from the catheterization lab to the cardiac intensive care unit, and standardized treatments are provided to patients once they enter the intensive care unit. Research results show that the incidence of acute myocardial infarction in patients with primary thrombocythemia within 10 years is 9.4%. This type of disease is rare and difficult to cure, posing significant challenges to medical and nursing professionals. In order to benefit future patients, we have documented individual cases of treatment and nursing care for these patients. The research results show that these patients exhibit resistance to traditional oral anticoagulant drugs and require alternative anticoagulants. Additionally, there are significant differences in serum and plasma potassium levels among patients. Therefore, when making clinical diagnoses, it is necessary to carefully distinguish between the two. Particularly, nursing personnel should possess dialectical thinking when supplementing potassium levels in patients in order to reduce the incidence of malignant arrhythmias and mortality rates.

Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin:A case report

BACKGROUND The tongue squamous cell carcinoma(TSCC)is an oral malignant tumor arising from the squamous epithelium of the tongue mucosa,characterized by a high malignant degree,invasive growth,early lymph node metastasis,and poor prognosis.Paclitaxel,represented by docetaxel,is now the standard first-line treatment for head and neck squamous cell carcinoma.Docetaxel,which belongs to the class of drugs known as paclitaxel,is an antitumor drug that inhibits cell mitosis and proliferation.Its adverse effects include myelosuppression,hair loss,gastrointestinal reactions,fluid retention,and allergic reactions.However,hypokalemia is rare,most cases are mild or moderate,and severe hypokalemia is seldom reported.symptoms of adverse effects early.It is necessary to be considerate regarding individual differences between patients when selecting chemotherapy regimens and adhere to the principle of individualized treatment.Following multiple cycles of chemotherapy,patients should be aware of the accumulation of toxic side effects and receive blood tests reviewed within 24 hours of completion.It is essential to monitor electrolyte levels in patients suffering from severe gastrointestinal reactions to avoid complications that may result in death.

Hypokalemia Havoc: Unraveling the Mystery of Unexplained Potassium Depletion

Hypokalemia, defined as serum potassium below 3.5 mEq/L, can lead to severe complications such as arrhythmias and muscle paralysis, potentially resulting in rhabdomyolysis. The etiology of hypokalemia is often multifactorial, involving but not limited to gastrointestinal losses, renal losses, medication effects, and inadequate dietary intake. Chronic heavy alcohol use, obstructive sleep apnea (OSA), and the use of diuretics such as hydrochlorothiazide (HCTZ) are also significant contributing factors. Effective management requires thorough evaluation and investigation to effectively treat a patient. This case report aims to illustrate the diagnostic challenges and comprehensive treatment approach required in a patient with multiple comorbidities and severe hypokalemia, emphasizing the need for a multidisciplinary and comprehensive approach to address all underlying causes.

Case Analysis of Hypokalemia Induced by Irbesartan-Hydrochlorothiazide: A Case Study

Irbesartan-hydrochlorothiazide is a commonly used antihypertensive drug,but potential adverse reactions such as hypokalemia should not be overlooked.This study analyzes a case of hypokalemia induced by irbesartan-hydrochlorothiazide,exploring the drug’s association with hypokalemia and clinical treatment strategies.The patient experienced symptoms of muscle weakness and palpitations after taking irbesartan-hydrochlorothiazide and was diagnosed with hypokalemia through laboratory tests.Reviewing the patient’s medication history and disease progression,it was hypothesized that the drug’s potassium-wasting effect was the direct cause of the hypokalemia.After discontinuing the medication and initiating potassium supplementation,the patient’s potassium levels returned to normal,and symptoms significantly improved,further confirming the link between hypokalemia and the medication.This case suggests that clinicians should consider the risk of hypokalemia when treating hypertension,especially in patients with chronic kidney disease,the elderly,or those at risk for electrolyte disturbances.For patients who have already developed hypokalemia,potassium supplementation and adjustment of the treatment regimen are recommended to prevent further deterioration.Timely discontinuation of potential causative drugs is also advised.In summary,ensuring medication safety and preventing potential complications has significant clinical importance in recognizing and managing hypokalemia induced by irbesartan-hydrochlorothiazide.Future research should focus on optimizing treatment protocols and developing more effective strategies for preventing and managing related adverse reactions to improve patient quality of life.

Studies on Hypokalemia Induced by Trimethyltin Chloride

Objectives To determine the possible relationship between plasma potassiumconcentration and severity of acute trimethyltin chloride (TMT) poisoning and to assess themechanism of TMT induced hypokalemia. Methods SD rats were treated with variousdosages of TMT (ip). All the indices were measured and analysed for determing theirpossible relations with plasma K+. Results With increase of dosage, the plasma K+ leveldropped rapidly, and deaths appeared more quickly. The LD50 of TMT (ip) was 14.7 mg/kgbw. In the low dosage group (10 mg/kgbw), the plasma K+ level dropped slowly with thelowest dosage on day 6 (4.85 mmol/L). It rose again on day 11 (5.06 mmol/L), and recoverdon day 28. The poisoning signs corresponded with decline of the span of K+ level. The plasmaNa+ level dropped half an hour after TMT treatment, but recovered 24 h later. In the highdosage group (46.4 mg/kgbw), the levels of plasma K+ and Na+ fell rapidly within half anhour (P<0.05), the intracellular potassium concentration of RBC did not decrerase obviously(P>0.05), the activities of Na+-K+-ATPase and Mg2+-ATPase in RBC membrane weredepressed remarkably (P<0.01, P<0.05, respectively), the plasma aldosterone concentrationsrose as high as tenfold (P<0.01), the arterial blood pH fell from 7.434 to 7.258 (P<0.01),pCO2 was raised from 29.62 to 45.33 mmHg (P<0.01). In the 24 h urine test, when rats weretreated with TMT (21.5 mg/kgbw, ip), urine volume, urinary potassium, sodium and chlorideincreased significantly in comparison with those in the controls (P<0.01). Conclusion TMTcould induce hypokalemia in SD rats. The available evidence suggests that TMT can induceacute renal leakage of potassium. At the same time, a significant rise of plasma aldosteronemay play an important role in promoting potassium leakage from kidney to result in severehypokalemia with inhaling acid-base abnormalities produced, which aggravate the poisoningsymptoms. In the end the rats would die of respiratory failure.

Effects of hypokalemia on transmural dispersion of ventricular repolarization in left ventricular myocardium

Objective:To observe effects of hypokalemia on transmural heterogeneity of ventricular repolarization in left ventricular myocardium of rabbit,and explore the role of hypokalemia in malignant ventricular arrhythmia（MVA）.Methods:A total of 20 rabbits were randomly divided into control group and hypokalemic group.Isolated hearts in the control group were simply perfused with modified Tyrode’s solution,and were perfused with hypokalemic Tyrode’s solution in hypokalemic group.Ventricular fibrillation threshold（VFT）,90%monophasic action potential repolarization duration(APD90) of subepicardial,midmyocardial and subendocardial myocardium,transmural dispersion of repolarization（TDR） and Cx43 protein expression in three layers of myocardium were measured in both groups.Results:VFT in the control group and the hypokalemic group were（13.40±2.95） V,and（7.00±1.49） V,respectively.There was a significant difference between two groups（P【0.01）.APD90 of three myocardial layers in the hypokalemic group were significantly prolonged than those in the control group（/’【0.01）.△APD90in the hypokalemic group and the control group were（38.10±10\29） ms and（23.7015.68） ms,and TDR were（52.90r 14.55） ms and（36.10±12.44） ms,respectively.△APD90 and TDR in the hypokalemic group were significantly higher than those in the control group(P【0.05|,and the increase in△APD90 of midmyocardium was more significant in the hypokalemic group.Cx43 protein expression of all three myocardial layers were decreased significantly in the hypokalemic group（P【0.01）, and△APD90 was significantly increased {P【0.05).Reduction of Cx43 protein expression was more significant in the midmyocardium.Conclusions:Hypokalemic can increase transmural heterogeneity of Cx43 expression and repolarization in left ventricular myocardium of rabbit,and decrease VFT and can induce MVA more easily.

Rhabdomyolysis following severe hypokalemia caused by familial hypokalemic periodic paralysis

Rhabdomyolysis continues to appear with increasing frequency and represents a medical emergency requiring rapid appropriate treatment. One of the unusual causes of nontraumatic rhabdomyolysis is hypokalemic periodic paralysis without secondary causes. Primary hypokalemic periodic paralysis is a rare genetic disease characterized by episodic attacks of muscle weakness due to decreases in serum potassium. A 30-year-old woman who had 3 episodic attacks of hypokalemic periodic paralysis was admitted in emergency room with sudden onset symmetrical muscle weakness. After several hours, she started to complain myalgia and severe ache in both calves without any changes. Laboratory test showed markedly elevated creatine phosphokinase, lactic dehydrogenase levels with hypokalemia, rhabdomyolysis resulting from hypokalemia was diagnosed. Here, we report an unusual case of rhabdomyolysis caused by severe hypokalemia, which was suggested a result of familial hypokalemic periodic paralysis.

Severe Hypokalemia ECG Changes Mimicking Those of Acute Coronary Syndrome (ACS) in Patient with Underlying Ischaemic Heart Disease: A Case Review

Background: Hypokalemia is seen on regular basis in medical emergency. The definition of hypokalemia is serum potassium level below 3.5 mmol/L, meanwhile severe hypokalemia is serum potassium level below 2.5 mmol/L [1]. Patient with hypokalemia can present with wide range of presentation including musculoskeletal complaints from numbness to acute paralysis. Severe hypokalemia has tendency to progress to intestinal paralysis and respiratory failure. In some cases of hypokalemia, cardiovascular system can also be affected causing cardiac arrhythmias and heart failure [2]. Aim: This case report is to highlight that severe hypokalaemia can present with ECG changes mimicking acute coronary syndrome (ACS) which was fully resolved with correction of potassium level. Methods: We report a case of 84 years old Chinese man with underlying triple vessel disease presented with generalised body weakness for 2 days. ECG on arrival noted changes suggestive of ACS with ST segment depression in lead V4-V6 with first degree heart block, however patient had no ischemic symptoms and the potassium level was severe low at 1.6 mmol/L (3.5 - 5.1 mmol/L). He was correctly not treated for ACS. Outcomes: Repeated ECG post fast intravenous potassium correction noted complete resolution of the ST segment depression and first degree heart block. Patient discharged well from hospital four days later with potassium level of 3.8 mmol/L. Conclusions: Severe hypokalemia with asymptomatic ECG of ACS changes can safely be treated as a single entity clinical emergency with good resolution and no complication after normalizing potassium level.

Watery diarrhea,hypokalemia and achlorhydria syndrome due to an adrenal pheochromocytoma

Watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome caused by vasoactive intestinal polypeptide (VIP) -producing tumor only rarely occurs in patients with nonpancreatic disease. A 49-year-old woman was referred for evaluation of a right adrenal tumor incidentally diagnosed by abdominal ultrasound during the investigation of chronic watery diarrhea. Laboratory findings showed hypokalemia and excessive production of VIP and catecholamines. After surgical resection of the tumor, diarrhea subsided and both electrolytes and affected hormone levels normalized. Immunohistochemical examination confirmed a diagnosis of pheochromocytoma, which contained VIP-positive ganglion-like cells. We herein present the clinical and histogenetic implications of this rare clinical entity, with literature review.

Prevention of hospital-acquired hypokalemia in children receiving maintenance fluid therapy

Objective: It has been suggested that the use of hypotonic intravenous fluid (IVF) puts hospitalized children at a greater risk of developing hyponatremia in children with increased arginine vasopressin (AVP) production. To reduce its risk, the National Patient Safety Agency in UK issued alert 22 in 2007, of which recommendations were to use isotonic solutions for these children at risk of hyponatremia, instead of the previously most commonly used IVF (0.18% saline/ 4% dextrose) for maintenance fluid therapy. Recent observations, however, revealed that hypokalemia are also common in hospitalized patients who do not receive potassium in their IVF. This study was conducted to validate the potassium added IVF for the prevention of hospital-acquired hypokalemia in maintenance fluid therapy. Design: For maintenance fluid therapy, a commercially available IVF solution in Japan named as Solita-T2R (Na 84 mmol/L, K 20 mmol/L, Cl 66 mmol/L, glucose 3.2%) was infused for 41 sick children with a median age of 3.01 years. Its composition is close equivalent to 0.45% saline/5% dextrose (Na 77 mmol/L, K 0 mmol/L, Cl 77 mmol/L, dextrose 5%) except K content. The patients in states of AVP excess were excluded from the analysis. Results: Median serum potassium value did not drop significantly at a median interval of 48 hours (before IVF: 4.30 mmol/L, after IVF: 4.10 mmol/L, p > 0.05), whereas median serum sodium level significantly increased from 136.0 mmol/L to 139.0 mmol/L (p < 0.001). Conclusion: Potassium added (20 mmol/L) IVF solution reduces the risk of developing “hospital-acquired hypokalemia” in children who are not in states of AVP excess in maintenance fluid therapy. It is worthwhile to study prospectively in a larger number of sick children.

老年急性脑出血患者并发低钾血症的相关危险因素及风险预测模型构建

目的 探讨老年急性脑出血患者并发低钾血症的相关危险因素,并且基于logistic回归构建风险预测模型。方法 选取2022年6月至2024年5月佛山市中医院诊治的老年急性脑出血患者190例,根据有无并发低钾血症分为低钾血症组(血钾<3.5 mmol/L)51例和正常组(血钾3.5~5.5 mmol/L)139例。采用logistic回归分析影响急性脑出血患者并发低钾血症的危险因素,并根据危险因素构建综合指数模型;ROC曲线分析综合指数预测急性脑出血患者并发低钾血症危险因素的诊断价值。结果 低钾血症组女性、入院时美国国立卫生研究院卒中量表(National Institutes of Health Stroke Scale, NIHSS)评分、入院时尿素、入院时血清肌酐、肾小球滤过率≤60 ml/min、呋塞米剂量>20 mg/d比例高于正常组(P<0.01)。单因素logistic回归分析显示,女性、入院时NIHSS评分、入院时尿素、入院时血清肌酐、肾小球滤过率≤60 ml/min、呋塞米剂量>20 mg/d为老年急性脑出血患者并发低钾血症的危险因素(P<0.05,P<0.01);多因素logistic回归分析显示,女性、入院时NIHSS评分、肾小球滤过率≤60 ml/min、呋塞米剂量>20 mg/d为老年急性脑出血患者并发低钾血症的危险因素(OR=6.393,95%CI:2.138~19.112,P=0.001;OR=3.123,95%CI:2.161~4.513,P=0.000;OR=3.327,95%CI:1.137~9.736,P=0.028;OR=3.111,95%CI:1.083~8.933,P=0.035)。ROC曲线分析显示,女性、入院时NIHSS评分、肾小球滤过率≤60 ml/min、呋塞米剂量>20 mg/d及综合指数预测急性脑出血患者并发低钾血症的曲线下面积分别为0.621、0.897、0.601、0.613、0.857,敏感性分别为52.90%、76.50%、49.00%、54.90%、72.50%,特异性分别为71.20%、88.50%、71.20%、67.60%、87.80%。结论 女性、入院时NIHSS评分、肾小球滤过率≤60 ml/min、呋塞米剂量>20 mg/d可能会对急性脑出血患者并发低钾血症产生影响,并依据这些危险因素构建综合指数模型对预测急性脑出血患者并发低钾血症具有较高的效能。

人体感染狒狒巴拉姆希阿米巴脑炎1例报告

目的探讨狒狒巴拉姆希阿米巴脑炎的临床特点、诊断方法和治疗策略。方法回顾性分析病例资料。结果患者入院时检查异常的指标有:呼吸道病原体IgM阳性,华大基因测序结果检出狒狒巴拉姆希阿米巴的检出序列数为55,脑脊液分析结果显示白细胞计数为371×10^(6)/L,蛋白定量为3321.4 mg/L,葡萄糖为2.33 mmol/L,氯化物为110 mmol/L,这些数据表明,患者存在严重感染症和免疫紊乱。经过6 d治疗,患者的病情虽有所好转,仍然危重。由于缺乏特效药物,预后极差,家属要求出院。结论狒狒巴拉姆希阿米巴脑炎是一种罕见但危险的疾病,临床表现多样,诊断难度较大,缺乏特效药物,治疗难度极大,预后极差。但对于疑似狒狒巴拉姆希阿米巴脑炎的患者,乃应早期进行综合性治疗,包括抗感染、免疫调节等治疗措施。

Gitelman综合征合并抑郁症1例

Gitelman综合征(GS)是一种由SLC12A3基因突变引起罕见的隐性遗传性疾病,是肾单位远曲小管重吸收氯化钠障碍造成的原发性失盐性肾病。其临床表现呈多样性,实验室检查主要表现为低钾血症、代谢性碱中毒、低镁血症、低尿钙。现报道1例兰州大学第二医院收治的GS合并抑郁症患者,分析讨论该病例的临床表现、诊断、治疗、合并症管理。镁缺乏可能与抑郁症有关,该病例同步补钾及补镁后抑郁症状改善。以上研究为遗传性肾小管疾病诊治的临床工作提供经验。

Disorders of potassium homeostasis after kidney transplantation

Disturbances of potassium balance are often encountered when managing kidney transplant recipients(KTR).Both hyperkalemia and hypokalemia may present either as medical emergencies or chronic outpatient abnormalities.Despite the high incidence of hyperkalemia and its potential life-threatening implications,consensus on its management in KTR is lacking.Hypokalemia in KTR is also well-described,although it is given less attention by clinicians compared to hyper-kalemia.This article discusses the etiology,pathophysiology and management of both types of potassium disorders in KTR.Once any emergent situation has been corrected,treatment approaches include correcting insulin deficiency if present,adjusting non-immunosuppressive and immunosuppressive medications,elimi-nating or supplementing potassium as needed,and dietary counselling.Although commonly of multifactorial etiology,ascertaining the specific cause in a particular patient will help guide successful management.Monitoring KTR through regular laboratory testing is essential to detect serious disturbances in potassium balance since patients are often asymptomatic.

Severe acute kidney injury due to oxalate crystal induced severe interstitial nephritis:A case report

BACKGROUND Acute kidney injury(AKI)due to interstitial nephritis is a known condition primarily attributed to various medications.While medication-induced interstitial nephritis is common,occurrences due to non-pharmacological factors are rare.This report presents a case of severe AKI triggered by intratubular oxalate crystal deposition,leading to interstitial nephritis.The aim is to outline the case and its management,emphasizing the significance of recognizing uncommon causes of interstitial nephritis.CASE SUMMARY A 71-year-old female presented with stroke-like symptoms,including weakness,speech difficulties,and cognitive impairment.Chronic hypertension had been managed with hydrochlorothiazide(HCTZ)for over two decades.Upon admis-sion,severe hypokalemia and AKI were noted,prompting discontinuation of HCTZ and initiation of prednisolone for acute interstitial nephritis.Further investigations,including kidney biopsy,confirmed severe acute interstitial nephritis with oxalate crystal deposits as the underlying cause.Despite treatment,initial renal function showed minimal improvement.However,with prednisolone therapy and supportive measures,her condition gradually improved,high-lighting the importance of comprehensive management.CONCLUSION This case underscores the importance of a thorough diagnostic approach in identifying and addressing uncommon causes of interstitial nephritis.The occurrence of interstitial nephritis due to oxalate crystal deposition,especially without typical risk factors,emphasizes the need for vigilance in clinical practice.

17α-羟化酶缺乏症3家系临床分析

目的探讨并总结17α-羟化酶缺乏症的诊断及治疗。方法回顾性分析2015年11月至2023年2月儿童内分泌遗传代谢科收治的来自3个家系共5例17α-羟化酶缺乏症(17OHD)病例的临床资料,并复习相关文献。结果5例患儿均存在高血压、低血钾及性激素水平低下,4例无第二性征发育,2例46,XY患儿行性腺活检+双侧睾丸切除术,术后性腺病理结果为发育不良的睾丸。基因分析结果提示3例为CPY17A1基因c.985_987delinsAA纯合突变,另2例为CPY17A1基因c.785T>G与c.1193C>T复合杂合突变。5例患儿经糖皮质激素治疗,低血钾和高血压均得到控制。结论早期识别与诊断17α-羟化酶缺乏症,及时予糖皮质激素替代治疗,可获得满意的疗效,提高患儿生活质量。基因测序有助于明确该罕见病的分子学诊断。

Gitelman综合征临床特点及诊治方法

目的:分析Gitelman综合征的临床特点及诊治方法。方法:选取诊断为Gitelman综合征的3例患者作为研究对象,回顾性分析其临床表现、生化检查,并抽取患者的外周血进行全外显子高通量二代测序分析,结合文献报道讨论本疾病的临床特征与诊治经验。结果:3例患者均为成年发病,血压均正常。病例1无明显低钾症状,由体检时偶然发现而就诊;病例2和病例3均有低钾相关临床表现,补钾后症状可缓解。病例1和病例2表现为低钾、低镁、肾性失钾、低尿钙、代谢性碱中毒,病例3轻度低钾,血镁正常,也存在肾性失钾及低尿钙,3例患者均有肾素-血管紧张素-醛固酮系统的激活。基因检测结果示病例1和病例2为SCL12A3基因复合杂合突变,病例3仅发现单杂合突变,其中病例2的移码突变c.976delG既往未被报道,致病性软件预测该变异为可能致病。本文3例患者通过补充钾和镁后症状改善,血钾、血镁水平达到治疗目标。结论:Gitelman综合征的临床表现缺乏特异性,诊断有赖于实验室检查及基因检测,预后良好。

吉特曼综合征合并低钙血症1例报道

吉特曼综合征(gitelman syndrome,GS)又称家族性低钾-低镁血症,大多数GS病例与位于16q13染色体上的SLC12A3基因的双等位基因失活突变有关,该染色体编码位于远曲小管顶膜的噻嗪敏感氯化钠共转运体,少部分是由编码氯通道CLCNKB基因突变所致[1]。GS临床表现隐匿,与巴特综合征(bartter syndrome,BS)临床表现极为相似,临床难以区分[2]。