CLDN16 基因突变致家族性低镁血症高钙尿症与肾钙质沉着症1 例报告并文献复习

目的探讨家族性低镁血症高钙尿症和肾钙质沉着症(FHHNC)的临床特征和致病基因特点。方法分析1例2月龄FHHNC女性患儿的临床资料。结果患儿血镁低,尿钙高;肾脏超声提示肾髓质回声增强;多次尿培养大肠埃希菌。基因测序显示患儿CLDN16基因2处杂合变异c.324+1GC,c.317CT(p.Ser 106 Phe)。予抗感染及25%硫酸镁、门冬氨酸钾镁、10%枸橼酸钠口服治疗,病情好转。结论 FHHNC罕见且预后差,目前除肾移植外无特殊治疗方法,基因检测有助于早期诊断。     

Prevalence of hypo- and hypermagnesemia in an Iranian urban population

Background: Magnesium (Mg) plays an important role in metabolic processes and its deficiency or excess could adversely affect metabolism. Although magnesium deficiency and excess is associated with a variety of medical conditions, the prevalence of hypo- and hypermagnesemia have not been reported in an Iranian urban population.

Subjects and methods: This cross-sectional study was performed on 1558 subjects (754 males and 804 females), randomly selected from among participants of the Tehran Lipid and Glucose Study (TLGS). Serum Mg level was measured by flame atomic absorption spectrophotometry. Hypo- and hypermagnesemia were defined by serum Mg < 0.75 mmol/L and Mg>1.04 mmol/L, respectively, and sub-optimal serum Mg concentrations were defined by serum Mg < 0.8 mmol/L.

Results: The prevalence of hypomagnesemia was 4.6% in the total population, being more prevalent in females (6.0%) compared to males (3.2%) (p < 0.05). The overall prevalence of hypermagnesemia was 3.0% and it was more prevalent in males (3.2%) than females (2.7%) (p < 0.05). Sub-optimal Mg levels were found in 14.6% of the total population.

Conclusions: The data show a relatively high prevalence of abnormal levels of serum Mg, among a general population; levels which may contribute to the pathophysiology of several diseases.     

Proton pump inhibitors linked to hypomagnesemia: a systematic review and meta-analysis of observational studies

Abstract

Background: The reported risk of hypomagnesemia in patients with proton pump inhibitor (PPI) use is conflicting. The objective of this meta-analysis was to assess the association between the use of PPIs and the risk of hypomagnesemia. Methods: A literature search of observational studies was performed using MEDLINE, EMBASE and Cochrane Database of Systematic Reviews from inception through September 2014. Studies that reported odd ratios or hazard ratios comparing the risk of hypomagnesemia in patients with PPI use were included. Pooled risk ratios (RRs) and 95% confidence interval (CI) were calculated using a random-effect, generic inverse variance method. Results: Nine observational studies (three cohort studies, five cross-sectional studies and a case-control study) with a total of 109,798 patients were identified and included in the data analysis. The pooled RR of hypomagnesemia in patients with PPI use was 1.43 (95% CI, 1.08–1.88). The association between the use of PPIs and hypomagnesemia remained significant after the sensitivity analysis including only studies with high quality score (Newcastle–Ottawa scale score?≥?8) with a pooled RR of 1.63 (95% CI, 1.14–2.23). Conclusions: Our study demonstrates a statistically significant increased risk of hypomagnesemia in patients with PPI use. The finding of this meta-analysis of observational studies suggests that PPI use is associated with hypomagnesemia and may impact clinical management of patients who are taking PPIs and at risk for hypomagnesemia related cardiovascular events.     

Hypomagnesemia in the intensive care unit: Choosing your gastrointestinal prophylaxis,a case report and review of the literature

We report a case of symptomatic hypomagnesaemia in medical intensive care unit that is strongly related to proton pump inhibitors (PPIs) and provide literature review. A 65-year-old male with severe gastroesophageal reflux on omeprazole 20 mg orally twice a day, who presented to the hospital with abdominal pain, nausea, diarrhea, and new onset seizures. On admission, his serum magnesium level was undetectable. Electrocardiogram showed a new right bundle branch block with a prolonged QT interval. The hypomagnesemia was corrected with aggressive magnesium supplementation and hypomagnesemia resolved only after the PPI was stopped. Neurologic and cardiac abnormalities were corrected. This is a life-threatening case of an undetectable magnesium level strongly associated with PPI use. In critically, ill patients with refractory hypomagnesemia, we advocate considering changing gastrointestinal prophylaxis from a PPI to a histamine-receptor blocker.     

Electrolyte disturbances in chronic heart failure: Metabolic and clinical aspects

The pathophysiology of congestive heart failure (CHF) includes conditions (e.g., activation of the renin-angiotensin-aldosterone system) which, when combined with CHF therapies, make patients afflicted with this syndrome quite susceptible to electrolyte disturbances. The most commonly encountered are hyponatremia, hypokalemia, and hypomagnesemia. These derangements are of vast clinical importance; their development not only represents an immediate threat to the CHF patient (e.g., dysrhythmias secondary to hypokalemia), but are also indicative of underlying pathophysiologic events, an unfavorable clinical course, and occasionally an adverse therapeutic response. The optimal care of the CHF patient includes the recognition and management of these electrolyte disturbances.     

Single-dose rATG induction at renal transplantation: superior renal function and glucoregulation with less hypomagnesemia

Stevens RB, Lane JT, Boerner BP, Miles CD, Rigley TH, Sandoz JP, Nielsen KJ, Skorupa JY, Skorupa AJ, Kaplan B, Wrenshall LE. Single‐dose rATG induction at renal transplantation: superior renal function and glucoregulation with less hypomagnesemia.
Clin Transplant 2012: 26: 123–132.
© 2011 John Wiley & Sons A/S. Abstract: Background: Rabbit anti‐thymocyte globulin (rATG) induction reduces reperfusion injury and improves renal function in kidney recipients by means of properties unrelated to T‐cell lysis. Here, we analyze intensive rATG induction (single dose, rATG_S, vs. divided dose, rATG_D) for improved renal function and protection against hyperglycemia. Methods: Patients without diabetes (n = 98 of 180) in a prospective randomized trial of intensive rATG induction were followed for six months for the major secondary composite end point of impaired glucose regulation (hyperglycemia and new‐onset diabetes after transplantation, NODAT). Prospectively collected data included fasting blood glucose and HbA_1c. Serum Mg⁺⁺ was routinely collected and retrospectively analyzed. Results: Induction with rATG_S produced less impaired glucose regulation (p = 0.05), delayed NODAT development (p = 0.02), less hyperglycemia (p = 0.02), better renal function (p = 0.04), and less hypomagnesemia (p = 0.02), a factor associated with a lower incidence of NODAT. Generalized linear modeling confirmed that rATG_S protects against a synergistic interaction between tacrolimus and sirolimus that otherwise increased hypomagnesemia (p = 0.008) and hyperglycemia (p = 0.03). Conclusions: rATG_S initiated before renal reperfusion improved early renal function and reduced impaired glucose regulation, an injury by diabetogenic maintenance agents (tacrolimus and sirolimus).     

血清镁离子酶法测定及在肝硬化病人中的应用

目的　评价丙酮酸激酶偶联乳酸脱氢酶测定血清镁离子方法 ,观察几种物质对镁测定的干扰及肝硬化病人血清镁离子水平。方法　应用丙酮酸激酶偶联乳酸脱氢酶反应测定血清镁离子。结果　该方法批内CV为 0 .63 % ,日间CV为 1.46% ,钾、氨、钙、锰、铜、锌、铁离子以及胆红素、甘油三酯和血红蛋白对镁离子测定无干扰。肝硬化组病人血清镁为 (0 .67± 0 .14 )mmol L ,对照组为 (0 .88± 0 .0 9)mmol L ,t =8.5 71,P <0 .0 1,两组差别具有显著的统计学意义。结论　该方法准确性好 ,灵敏度高 ,特异性强 ,抗干扰性强。低血镁 (2 1 3 3 ,63 .64 % )在肝硬化中较为常见     

Gitelman综合征合并骨质疏松症2例临床分析

目的 探讨2例Gitelman 综合征合并骨质疏松症的临床特点、诊治经过,提高对Gitelman 综合征的认识。方法 以2例Gitelman 综合征合并骨质疏松症患者为研究对象,分析临床资料,观察治疗反应和随访结果。结果 2例患者均为绝经早期女性,主要表现为正常血压伴低血钾、高尿钾、低血镁、低尿钙、代谢性碱中毒、骨质疏松,一例患者肾素-血管紧张素-醛固酮系统（renin-angiotensin-aldosterone system,RAAS）激活,一例患者RAAS未激活,两例患者均临床诊断为Gitelman 综合征合并骨质疏松症。2例患者均给予口服氯化钾缓释片、门冬氨酸钾镁、安体舒通治疗, 低血钾基本纠正,血镁接近正常低值;同时予抗骨质疏松治疗,预防脆性骨折发生。结论 成年起病的Gitelman 综合征,尤其是绝经早期女性患者,易合并骨质疏松症,临床应注意筛查并及时治疗。