Persistent severe hypomagnesemia caused by proton pump inhibitor resolved after laparoscopic fundoplication

Magnesium deficiency can cause a variety of symptoms, including potentially life-threatening complications such as seizures, cardiac arrhythmias and secondary electrolyte disturbances. Hypomagnesemia can be a serious adverse effect to proton pump inhibitor(PPI) therapy, which is worrying due to the widespread use of PPIs. Current evidence suggest that the mechanism of PPI induced hypomagnesemia is impaired intestinal magnesium absorption. In this report, we present the case of a long-term PPI user with persistent hypomagnesemia with severe symptoms at presentation. He was unable to stop PPI treatment because of severe reflux symptoms, and was dependent on weekly intravenous magnesium infusions, until his magnesium levels finally normalized without the need for supplementation after a successful laparoscopic fundoplication.

Domino effect of hypomagnesemia on the innate immunity of Crohn's disease patients

Digestive diseases play major role in development and complications of other disorders including diabetes.For example,Crohn’s disease(CD)is an inflammatory bowel disease associated with Mycobacterium avium subspecies paratuberculosis.The inflammation is a complex process that involves the activity of both innate and adaptive immune responses.CD lesions are primarily due to T cell response,however;innate immune response has a significant role in initiating its pathogenesis.Toll-like receptors and NOD-like receptors promote the activity of nuclear factor(NF)-κB pathway for cytokines production.This results in the production of high levels of tumor necrosis factor-α,interleukin(IL)-1βand IL-6.Moreover,intestinal inflammation of CD is related to increased activity of NMDA receptors and the release of substance P.Imbalanced magnesium homeostasis in CD is a frequent finding in CD,Diabetes and others.The loss of such a major mineral affects many physiological processes in the body including its role as an immunomodulator.This review aims to(1)describe the significance of hypomagnesemia in the release of pro-inflammatory mediators in CD;(2)demonstrate effects of magnesium on pathways like NF-κB;(3)address the role of hypomagnesemia in the activity of CD;and(4)examine possible future research to establish a standard magnesium supplementation strategy;helping patients with CD or other disorders to maintain a sustained remission.

Hypomagnesemia with Secondary Hypocalcemia Linked to a Novel TRPM6 Gene Mutation

Hypomagnesemia with secondary hypocalcemia (HSH) is a rare inherited disorder, characterized by extremely low levels of serum magesium associated with symptomatic hypocalcemia. HSH manifests in the new born period with neurological symptoms, including generalized seizures, which are refractory to anticonvulsant treatment. In this disorder, the basic abnormality is the defective intestinal absorption of magnesium. Mutations in TRPM6, the gene encoding the transient receptor potential cation channel subfamily member 6 have been found to be responsible for this disease. We report on a four-month-old Tunisian girl who presented with convulsions. Laboratory evaluation yielded extremely low serum magnesium levels, low calcium levels, and abnormal PTH levels. The diagnosis of HSH was confirmed by mutation analysis which identified the novel mutation c.1307A >G in exon 11 of TRPM6 (Lys436Arg). Our patient was homozygous for this mutation. Prenatal diagnosis was done during second pregnancy. DNA from trophoblast biopsy showed the same mutation as the proband.

Proton-pump inhibitor-induced hypomagnesemia: Current research and proposed mechanisms

Since the early reports nearly a decade ago, proton-pump inhibitor-induced hypomagnesemia(PPIH) has become a well-recognized phenomenon. While many observational studies in the inpatient and outpatient populations have confirmed the association of PPI exposure and serum magnesium concentrations, there are no prospective,controlled studies to support causation. Molecular mechanisms of magnesium transporters, including the pH-dependent regulation of transient receptor potential melastatin-6 transporters in the colonic enterocyte, have been proposed to explain the effect of PPIs on magnesium reabsorption, but may be a small part of a more complicated interplay of molecular biology, pharmacology, and genetic predisposition. This review explores the current state of research in the field of PPIH and the proposed mechanisms of this effect.

低镁血症对成人脓毒症患者预后的影响

目的:评估低镁血症是否与脓毒症患者的全因院内病死率相关。方法:回顾分析2020年6月—2023年6月中日友好医院重症医学科收治的成人脓毒症患者。将符合纳入标准的患者,根据入科时的血镁水平,分为低镁血症组和正常血镁组。对比分析2组病死率的差异,并应用Logistic回归统计分析病死率的危险因素。结果:285例患者纳入研究,其中低镁血症组114例,病死率29.8%,显著高于正常血镁组(8.2%),差异有统计学意义(P<0.05)。高序贯器官衰竭评分、机械通气、低镁血症是脓毒症患者院内全因病死率的独立危险因素(OR=2.85、3.42、2.32,均P<0.05)。结论:低镁血症是成人脓毒血症患者高院内全因病死率的独立危险因素。

TRPM6基因复合杂合突变致原发性低镁血症继发低钙血症合并显著肌酸激酶升高1例并文献复习

目的探讨TRPM6基因复合杂合突变致原发性低镁血症继发低钙血症(HSH)合并显著肌酸激酶升高患儿的临床特征及治疗效果。方法回顾性分析潍坊市妇幼保健院2022年经全外显子测序基因检测确诊的1例TRPM6基因复合杂合突变致HSH合并显著肌酸激酶升高患儿的临床资料及治疗效果。结果患儿全外显子测序基因检测显示存在TRPM6基因的复合杂合突变,家系验证结果显示,该突变分别来自父母双方,父母双方均为杂合突变,但位于同一染色体的不同等位基因,其中父亲chr9:77377010存在c.4577G>A杂合突变,母亲chr9:77407555存在c.2523G>C杂合突变,两个位点的突变在千人基因组、ExAC和gnomAD外显子数据库中均未见收录。患儿入院后经过补镁、纠正电解质紊乱等对症治疗,随访1年内未再抽搐,血镁仍维持在正常低线,其余异常结果均处于正常范围。结论基因检测为确诊HSH的金标准,致HSH的TRPM6基因复合杂合突变属于常染色体隐性遗传,补镁等对症治疗对TRPM6基因突变致HSH的治疗效果显著。

青年女性,乏力,低血钾,高血糖

本文报道1例合并乏力、低血钾、高血糖的青年女性患者。其既往合并糖尿病,因乏力、发现血钾低5年而就诊,辅助检查示低血钾、低血镁、代谢性碱中毒、低尿钙,SLC12A3致病性突变,确诊为Gitelman综合征。予以氯化钾、镁剂治疗后,患者乏力得到改善,血钾、血镁基本正常,口服降糖药物后血糖控制达标。本文梳理该患者的诊疗历程,并结合文献复习,以期为临床诊疗提供参考。

低镁血症与肾移植:免疫影响及感染风险的研究进展

镁作为细胞内含量丰富且具有广泛作用的阳离子,在免疫功能方面发挥着积极的作用,备受关注。在多种因素的影响下,如使用钙调磷酸酶抑制剂等,肾移植术后低镁血症的发生并不罕见。感染是肾移植术后常见的并发症,也是导致肾移植受者死亡的常见原因之一。近年来的临床研究表明,肾移植术后低镁血症与移植后感染风险密切相关。在肾移植受者中关注并监测镁浓度可能有助于预防感染的发生,改善受者及移植物预后。因此,本文就镁与免疫反应、肾移植术后低镁血症发生的原因及肾移植术后低镁血症与感染的相关研究进展进行综述,以期为肾移植术后感染的预防与治疗提供参考。

Hypomagnesemia is a risk factor for metabolic syndrome and type 2 diabetes mellitus in native Balinese

Objective:To determine the prevalence of hypomagnesemia and the risk of hypomagnesemia on metabolic syndrome and type 2 diabetes mellitus events in native Balinese.Methods:A cross-sectional population-based study was conducted in 111 subjects among native Balinese.Chi-square test was used to determine the prevalence risk(OR)of hypomagnesemia for metabolic syndrome and diabetes.Results:Prevalence of hypomagnesemia was 17.1%.The prevalence of hypomagnesemia was higher in subjects with metabolic syndrome and type 2 diabetes mellitus than those without(34.7%vs.12.5%,P=0.025;and 60.0%vs.15.1%,P=0.035).Hypomagnesemia was a risk factor for metabolic syndrome(OR=3.7;95%CI,1.28-10.83)and type 2 diabetes mellitus(OR=8.4;95%CI,1.30-54.50).Conclusion:The prevalence of hypomagnesemia is very high among native Balinese and hypomagnesemia is an important risk factor for metabolic syndrome and type 2 diabetes mellitus events in the population.

Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances:A case report

BACKGROUND Hypoparathyroidism,which can be sporadic or a component of an inherited syndrome,is the most common cause of hypocalcemia.If hypocalcemia is accompanied by other electrolyte disturbances,such as hypokalemia and hypomagnesemia,then the cause,such as renal tubular disease,should be carefully identified.CASE SUMMARY An 18-year-old female visited our clinic because of short stature and facial deformities,including typical phenotypes,such as low ear position,depression of the nasal bridge,small hands and feet,and loss of dentition.The lab results suggested normal parathyroid hormone but hypocalcemia.In addition,multiple electrolyte disturbances were found,including hypokalemia,hypocalcemia and hypomagnesemia.The physical signs showed a short fourth metatarsal bone of both feet.The X-ray images showed cortical thickening of long bones and narrowing of the medulla of the lumen.Cranial computed tomography indicated calcification in the bilateral basal ganglia.Finally,the genetic investigation showed a de novo heterogenous mutation of“FAM111A”(c.G1706A:p.R569H).Through a review of previously reported cases,the mutation was found to be the most common mutation site in Kenny-Caffey syndrome type 2(KCS2)cases reported thus far(16/23,69.6%).The mutation was slightly more prevalent in females than in males(11/16,68.8%).Except for hypocalcemia,other clinical manifestations are heterogeneous.CONCLUSION As a rare autosomal dominant genetic disease of hypoparathyroidism,the clinical manifestations of KCS2 are atypical and diverse.This girl presented with short stature,facial deformities and skeletal deformities.The laboratory results revealed hypocalcemia as the main electrolyte disturbance.Even though her family members showed normal phenotypes,gene detection was performed to find the mutation of the FAM111A gene and confirmed the diagnosis of KCS2.

Metabolic and Renal Protective Benefits of Magnesium Supplementation in the Long-Term Management of Patients with Type 2 Diabetes Mellitus

Magnesium deficiency is common in patients with type 2 diabetes mellitus (type 2 DM). When adequate magnesium supplementation is chronically given, patients with type 2 DM appear to have improved glucose control and may have delayed chronic complications. In addition, magnesium supplementation may slow the progression of chronic kidney disease (CKD) and decrease the risk of contrast-induced nephropathy in patients with type 2 DM. Keeping serum magnesium at 2.0 mEq/L or greater appears to accomplish these benefits for patients with type 2 DM. Periodically measuring serum magnesium and estimated glomerular filtration rate (eGFR) allows a physician to adjust the supplemental magnesium dose to accomplish these therapeutic goals while avoiding hypermagnesemia.

低镁血症与肾移植后糖尿病

移植后糖尿病(PTDM)是器官移植后的常见代谢并发症之一,严重影响受者的近期和远期生存。器官移植后使用激素和免疫抑制剂可能会导致胰岛素抵抗,进而发生移植后糖尿病。镁是人体内重要的阳离子,参与许多重要的生理功能。低镁血症会增加移植后糖尿病的发生风险;其发生机制可能与镁离子参与葡萄糖的运输与摄取,以及调控胰岛素敏感性及分泌有关。本文就肾移植后低镁血症及移植后糖尿病的发生情况、危险因素及两者之间相互影响机制作一简述。

重视终末期肾病血液透析患者血镁的变化

镁是机体具有重要生理、生化作用的离子,终末期肾病血液透析(HD)患者的血镁受到残余肾功能、透析清除率、药物和营养状况等因素的影响。高镁血症常见但很少伴随临床症状,低镁血症与HD患者的透析中低血压、心律失常、肌肉痉挛以及心血管死亡率和全因死亡率的增加相关。轻度的高镁血症可在一定程度上改善HD患者的甲状旁腺素水平、血管钙化和骨健康。质子泵抑制剂、大剂量袢利尿剂和营养不良可降低血镁浓度,使用较高镁浓度的透析液予以补充安全简便。镁与HD患者的生存状况和预后有关,虽然目前尚不清楚镁与透析患者临床结局之间是否存在因果关系,略高于生理水平的镁似乎更能使患者获益。故有必要对HD患者的镁代谢进行深入研究,以探索是否存在最佳的血镁范围,使患者的骨健康、心血管结局和生存率得到优化。

慢性肾病患者低镁血症与动脉粥样硬化发生的相关性分析

目的探讨慢性肾病(CKD)患者低镁血症与动脉粥样硬化(AS)发生的相关性。方法选择2017年1月至2020年1月期间于新疆军区总医院北京路医疗区肾脏内科住院的CKD 5期患者402例,根据颈动脉超声检查结果,将患者分为AS组140例和非AS组262例,比较两组临床检查指标,血清镁、超敏C反应蛋白(hs-CRP)、颈动脉内中膜厚度(IMT)和肾小球滤过率估算值(eGFR)水平。多因素Logistic回归分析CKD患者并发AS的独立危险因素,分析血清镁与hs-CRP、IMT和eGFR的相关性。采用ROC曲线分析低镁血症对CKD患者发生AS的预测价值。结果AS组有高血压史的患者比例更高,且低密度脂蛋白胆固醇(LDL-C)、hs-CRP、尿酸(UA)水平和IMT均显著高于非AS组,而血清镁和eGFR水平低于非AS组(t/χ^(2)=4.109、3.584、10.877、2.459、26.035、5.652、7.040,P<0.05)。血清镁、hs-CRP、IMT和eGFR均为CKD患者合并AS的影响因素[OR(95%CI)=3.221(2.635~5.548)、6.582(4.235~7.634)、8.917(6.344~9.213)、3.165(2.251~5.337),P<0.05]。血清镁预测CKD患者发生AS的曲线下面积为0.784(95%CI=0.731~0.832,P<0.05)。结论低血清镁水平是CKD患者发生AS的影响因素,低血清镁水平可能导致CKD患者发生AS风险增加。

SLC12A3基因新突变导致Gitelman综合征的家系分析

目的探讨1个Gitelman综合征家系的临床特征及遗传学病因,并进行文献复习。方法对先证者进行查体、电解质测定、外显子组测序及分析,对目标变异进行Sanger测序并在家系成员中验证。结果先证者及其同胞姐姐均符合Gitelman综合征诊断,表现为低血钾、低血镁、低尿钙、正常血压。2人均携带SLC12A3基因c.1850A>G、c.909delG复合杂合突变,均为新突变。三代家系成员中3人携带c.1850A>G杂合突变,2人携带c.909delG杂合突变,杂合子无低血钾。结论SLC12A3基因c.1850A>G、c.909delG新突变是该家系致病突变。

类Gitelman综合征发病机制的研究进展

Gitelman综合征(Gitelman syndrome,GS)又称家族性低钾低镁血症,是编码肾远曲小管(distal convoluted tubule,DCT)的噻嗪类利尿剂敏感的钠-氯共转运体(sodium-chloride cotransporter,NCC)基因突变导致的低钾失盐性肾小管疾病,以低钾性碱中毒和低镁血症为特征。GS目前主要的致病基因有SLC12A3基因、KCNJ10基因、HNF1B基因等。类Gitelman综合征是指与GS的临床表现相同,但未检测出经典基因突变的一类综合征,存在与GS不完全相同的致病机制。本文从遗传因素(线粒体基因变异、SLC26A4基因突变、BSND基因突变等)和非遗传因素(利尿剂滥用、氨基糖胺类抗生素、顺铂等)总结类Gitelman综合征的发病机制,为进一步认识和诊治该疾病提供理论依据。

T2DM患者血糖、镁离子和血细胞计数的相关性分析

目的 回顾性分析155名单纯T2DM患者的血糖、镁离子和血细胞计数,探讨其相关性。方法 收集WBC、RBC、PLT、HGB、Mg^(2+)和GLU检测结果,并使用SPSS21.0进行组间差异和指标相关性分析。结果 GLU与Mg^(2+)、PLT呈明显负相关,与RBC、HGB呈明显正相关,与WBC无显著相关。Mg^(2+)与PLT、WBC呈明显正相关,与RBC、HGB无显著相关。不同血糖水平组的Mg^(2+)、PLT、WBC、RBC差异无显著性,HGB在GLU≥7 mmol/L组明显高于GLU<7 mmol/L组。结论 单纯T2DM患者的血糖与镁离子和血细胞代谢紊乱相关。对于早期或血糖控制较好且无明显疾病的患者,持续监测Mg^(2+)和血常规仍然重要。当Mg^(2+)、PLT下降或RBC、HGB升高时,应密切观察血糖的变化趋势。

急性脑卒中后继发顽固性呃逆与低血钙、低镁血症关系

目的 :探讨急性脑卒中后的继发顽固性呃逆与低血钙、低镁血症的关系。方法 :选择我院 1 996～2 0 0 0年急性脑卒中患者 1 843例中伴发呃逆 66例 ,年龄病情相仿的无呃逆急性脑卒中患者为对照组。结果 :呃逆组血清钙 1 .0 6～ 2 .2 5mmol·L-1(1 .8± 0 .4)mmol·L-1,并发低钙血症 46例 (69.7% ) ,血清镁 0 .3 4～ 0 .97mmol·L-1(平均 0 .63±0 .2 0mmol·L-1) ,其中并发低镁血症 42例 (64.64% )。与对照组经统计学处理均有显著性差异。结论 :急性脑卒中后继发顽固性呃逆与低血钙、低镁血症与应用脱水剂有关 。

急性心肌梗死早期应激反应对血电解质的影响

目的探讨急性心肌梗死(AMI)早期应激反应对血电解质及预后的影响。方法对我院2008年1月到2013年12月收治的164例AMI患者进行了回顾性分析,观察血钾、血钠、血镁、血钙、血氯的变化,与同期收治的122例不稳定型心绞痛(UA)患者进行比较。结果 AMI组低钾、低钠、低镁、低钙血症的发生率显著高于UA组(P<0.05),而低氯血症两组比较无差异。其中低钾、低钠、低镁血症的病人并发恶性心律失常及心衰的几率明显增加。结论 AMI早期应激反应可引起多种电解质紊乱,故纠正电解质紊乱的同时应积极给予抗应激治疗,降低病死率。

Ⅱ型糖尿病低镁血症与血浆脂质的关系

我们对80例Ⅱ型糖尿病患者的血浆镁与脂质进行测定,以探讨血浆镁与脂质代谢的关系。结果表明糖尿病患者血浆镁浓度明显低于正常对照组,且与血浆总胆固醇,甘油三酯,LDL-C呈负相关,与DHL_2、HDL-C/LDL-C呈正相关。提示糖尿病低镁血症与脂质代谢紊乱有密切联系。低镁血症可以引起与加重糖尿病的脂质代谢紊乱。