Primary hypomagnesemia is a rare inherited disorder and it is considered to be due to either a defect in the intestinal transport of magnesium or a defect in renal tubular transport. It is important to measure the urinary excretion of magnesium to differentiate the causes of magnesium deficiency. We report here an one-month-old female infant of primary hypomagnesemia who presented generalized tonic-clonic seizures. She had hypomagnesemia(<1.5mg/dL) and several seizure attacks but normal magnesium creatinine ratio in random urine and normal magnesium excretion in 24-hour urine. Continuous oral magnesium supplementation was necessary to avoid the recurrence of symptoms and maintain serum rnagnesium levels.
Creatinine ; Female ; Humans ; Infant ; Magnesium ; Magnesium Deficiency ; Recurrence ; Seizures

OBJECTIVE: To explore the molecular pathogenesis for a pedigree affected with hypocalcemia secondary to hypomagnesemia. METHODS: Sanger sequencing was used to detect potential variant of the TRPM6 gene in the patient and their parents. RESULTS: The results showed that the patient has carried novel homozygous c.3311C>T (p.Pro1104Leu) variant of the TRMP6 gene, for which both of his parents were heterozygous carriers. Analysis of protein functions using software predicted high risk of pathogenicity. CONCLUSION The homozygous c.3311C>T (p.Pro1104Leu) variant of the TRPM6 gene probably underlies the disease in this patient.
Heterozygote ; Humans ; Hypocalcemia ; genetics ; Magnesium ; Magnesium Deficiency ; genetics ; Male ; Pedigree ; TRPM Cation Channels ; genetics

BACKGROUND AND OBJECTIVES: Previous studies reported that sodium and potassium play an important role in the pathogenesis of hypertension. Recently attention has been directed towards a possible role of the divalent cations such as calcium, and magnesium. Plasma renin activity is also known to be related to divalent cations heterogeneously. This study investigated the relationships between serum magnesium and ionized calcium and plasma renin activity. MATERIALS AND METHODS: The subjects consisted of 27 essential hypertensive patients and 25 normotensive controls. Criteria for hypertensive group in this study were systolic blood pressure> or =140mmHg or a diastolic blood pressure > or =90mmHg (JNC-VI, 1997). Inclusion criteria were normal urinalysis, no history of systemic illness, no intake of antihypertensive drugs, and no recent intake of any other medication. We took magnesium-loading test for a reliable method of assessing possible magnesium deficiency. RESULTS: There was no significant difference between two groups in serum Magnesium concentration and other electrolytes and plasma renin activity. There was significantly higher rate in hypertensives than in normotensives in magnesium retention(hypertensive vs. normotensive: 63.56+/-12.21% vs. 38.43+/-11.53%, P<0.001). There was significant differences in ionized calcium between high-renin and low-or normo-renin hypertensives(P<0.001). Plasma renin activity was correlated positively with serum ionized calcium in hypertensives(r=.8147; P<0.001). CONCLUSION: These results suggest that plasma renin activity is a factor that can influence on serum ionized calcium in high-renin hypertensives.
Antihypertensive Agents ; Blood Pressure ; Calcium* ; Cations, Divalent ; Electrolytes ; Humans ; Hypertension ; Magnesium Deficiency ; Magnesium* ; Plasma* ; Potassium ; Renin* ; Sodium ; Urinalysis

BACKGROUND AND OBJECTIVES: Previous studies reported that sodium and potassium play an important role in the pathogenesis of hypertension. Recently attention has been directed towards a possible role of the divalent cations such as calcium, and magnesium. Plasma renin activity is also known to be related to divalent cations heterogeneously. This study investigated the relationships between serum magnesium and ionized calcium and plasma renin activity. MATERIALS AND METHODS: The subjects consisted of 27 essential hypertensive patients and 25 normotensive controls. Criteria for hypertensive group in this study were systolic blood pressure> or =140mmHg or a diastolic blood pressure > or =90mmHg (JNC-VI, 1997). Inclusion criteria were normal urinalysis, no history of systemic illness, no intake of antihypertensive drugs, and no recent intake of any other medication. We took magnesium-loading test for a reliable method of assessing possible magnesium deficiency. RESULTS: There was no significant difference between two groups in serum Magnesium concentration and other electrolytes and plasma renin activity. There was significantly higher rate in hypertensives than in normotensives in magnesium retention(hypertensive vs. normotensive: 63.56+/-12.21% vs. 38.43+/-11.53%, P<0.001). There was significant differences in ionized calcium between high-renin and low-or normo-renin hypertensives(P<0.001). Plasma renin activity was correlated positively with serum ionized calcium in hypertensives(r=.8147; P<0.001). CONCLUSION: These results suggest that plasma renin activity is a factor that can influence on serum ionized calcium in high-renin hypertensives.
Antihypertensive Agents ; Blood Pressure ; Calcium* ; Cations, Divalent ; Electrolytes ; Humans ; Hypertension ; Magnesium Deficiency ; Magnesium* ; Plasma* ; Potassium ; Renin* ; Sodium ; Urinalysis

The link between diabetes mellitus and magnesium deficiency is well known. A growing body of evidence suggests that magnesium plays a pivotal role in reducing cardiovascular risks and may be involved in the pathogenesis of diabetes itself. While the benefits of oral magnesium supplementation on glycemic control have yet to be demonstrated in patients, magnesium supplementation has been shown to improve insulin sensitivity. Effects of Magnesium (Mg) supplementation on the glycemic control of 63 mild gestational diabetic patients were investigated. The use of an ionic, liquid minerals containing concentrated amounts of magnesium and chloride (CMD) was used for supplementation during the two week period and showed good glycemic control in the study group without additional need foe insulin injections.

Human ; Female ; Magnesium Deficiency ; Magnesium ; Insulin Resistance ; Ionic Liquids ; Cardiovascular Diseases ; Diabetes Mellitus ; Blood Glucose ; Pregnancy In Diabetics ; Insulin ; Minerals

OBJECTIVES: There are many interesting reports suggesting that magnesium(Mg) deficiency is deleterious in patients with congestive heart failure (CHF). It is paradoxical that the most important cause of Mg deficiency in these persons is maybe use of therapeutics including diuretics. Authors investigated the trend of serum and 24 hour urine Mg with other relating electrolytes in Mg homeostasis prospectively, in the management of CHF. And we assessd the effects of medications and many variables in .CHF on serum Mg, and the usefulness of serum Mg representing the body content. METHODS: Fifty three patients who were diagnosed as CHF by clinical finding and echocardiogaphy were prescribed conventional doses of diuretics as furosemide 40mg and spironolactone 50mg daily, with or without angiotensin converting enzyme(ACE) inhibitor and digitalis. And then, serial serum and 24 hour urine Mg, sodium, potassium and calcium were obtained at admission, 2nd day, 5th day, and discharge. RESULTS: The patients group with chronic CHF, which was defined as long-term use of diuretics over 6 months, showed higher prevalence of low level of serum Mg concentration than the group with acute one(11 of 28, 39% vs. 2 of 25. 8%, P< 0.01). Of those two groups, the latter showed upward trend of serum Mg from admission to discharge, but the former showed no change. In 24 hour urine Mg excretion, the amount of the patients with CHF was larger than that of control group. In the chronic CHF group, the effect of digitalis on decreasing serum Mg was evident. Serum Mg of acute CHF group correlated with serum BUN(r=0.5609). Whereas, that of chronic group with ejection fraction(r=-0.4742) and plasma renin activity(r=-0.3791), with serum potassium(r=0.4673) and creatinine(0.5846). Serum Mg may be useful indicator of Mg homeostasis, especially in chronic CHF patients. CONCLUSION: Because patients with chronic CHF were prone to deficiency of Mg in the management, maintaining the adequate serum Mg through long- term replacement seems very important in decreasing the morbidity and mortality of these persons.
Angiotensins ; Calcium ; Digitalis ; Diuretics ; Electrolytes ; Estrogens, Conjugated (USP)* ; Furosemide ; Heart Failure* ; Homeostasis ; Humans ; Magnesium Deficiency ; Magnesium* ; Mortality ; Plasma ; Potassium ; Prevalence ; Prospective Studies ; Renin ; Sodium ; Spironolactone

Wilson's disease is an autosomal recessive disorder marked by disruptions in copper metabolism which leads to accumulation of copper in the liver, brain, cornea, and other tissues. Manifestations of this disease are more likely to be hepatic during early childhood and neurologic in adolescent. In addition, abnormalities that develop during disease progression may result in other manifestations such as hematologic, endocrine, or renal findings. Here we report a 13-year-old girl who presented with hypocalcemic tetany shortly after being diagnosed with Wilson's disease. Despite aggressive calcium, magnesium, and vitamin D replacement therapy, the hypocalcemia and hypomagnesemia did not promptly respond. Mineral levels in the blood took longer than 3 weeks to normalize. We speculate that a parathyroid insufficiency and disrupted vitamin D metabolism caused by copper accumulation and hepatic dysfunction resulted in hypocalcemic tetany.
Adolescent ; Brain ; Calcium ; Copper ; Cornea ; Disease Progression ; Hepatolenticular Degeneration ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Liver ; Magnesium ; Tetany ; Vitamin D ; Vitamin D Deficiency

OBJECTIVE: To explore the clinical features and mutations of the TRPM6 gene in an infant featuring hypomagnesemia and secondary hypocalcemia. METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Targeted exome sequencing was carried out to screen the potential mutations. Suspected mutations were verified by Sanger sequencing. RESULTS: A novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was identified in the proband, for which both of her parents were heterozygous carriers. CONCLUSION The homozygous frameshift mutation of TRPM6 gene (c.5538delA) probably underlies the disease in the proband. The finding has expanded the mutation spectrum of TRPM6 gene.
DNA Mutational Analysis ; Female ; Frameshift Mutation ; Humans ; Hypocalcemia ; genetics ; Infant ; Magnesium Deficiency ; congenital ; genetics ; TRPM Cation Channels ; genetics

OBJECTIVE: Spiral volumetric computed tomography(spiral CT) has the advantage of direct imaging of intravascular thrombus or its relevant vascular abnormalities, but controversy exists about the value of spiral CT in the diagnosis of pulmonary embolism in the different levels of pulmonary artery. METHODS: The authors prospectively evaluated the diagnostic efficacy of spiral CT for pulmonary embolism in 20 patients (M:F=13:7, 57+/-10.4yrs) who were suspected to have pulmonary embolism from clinical symptoms and/or scintigraphic findings. Both spiral CT and pulmonary angiography were performed in these patients with the interval being 28+/-14.1 hours. The diagnostic efficacy of spiral CT was evaluated in the patients and also in the pulmonary arteries found to have emboli on pulmonary angiogram. RESULTS: Pulmonary embolism was diagnosed in 8 patients and excluded in 12 patients by pulmonary angiography. Spiral CT showed positive findings of pulmonary embolism in 7 of the 8 patients with pulmonary embolism, and was negative in 11 of the 12 patients without pulmonary embolism. The overall diagnostic efficacy of spiral CT for pulmonary embolism was: sensitivity 87%(7/8), specificity 92%(11/ 12), positive predictive value 87%(7/8), negative predictive value 92%(11/12), and accuracy 90%(18/20). For pulmonary embolism at lobar or greater pulmonary arteries, the diagnostic efficacy of spiral CT was: sensitivity 100%(15/15), specificity 98%(201/205), positive predictive value 79%(15/19), negative predictive value 100%(201/201), and accuracy 90% (216/220). For segmental or smaller arteries, how- ever, the diagnostic efficacy was: sensitivity 71%(15/ 21), specificity 98%(549/559), positive predictive value 60% (15/25), negative predictive value 99%(549/555), and accuracy 97%(554/580). CONCLUSION: Spiral CT can be a useful noninvasive method for the diagnosis of pulmonary embolism, and it may replace pulmonary angiography at the level of central pulmonary artery.
Angiography ; Arteries ; Diagnosis* ; Diuretics ; Heart Failure ; Humans ; Magnesium Deficiency ; Prospective Studies ; Pulmonary Artery ; Pulmonary Embolism* ; Sensitivity and Specificity ; Thrombosis ; Tomography, Spiral Computed*

OBJECTIVETo study the level of brain-derived neurotrophic factor (BDNF) in the microenvironment of the neuron-astrocyte co-culture system by Mg2+-free-induced seizure-like discharge and analyze the source of BDNF.

METHODSHippocampal neurons (N) of fetal rats and astrocytes (AST) of neonatal rats were purified and divided into four groups, included control N (Con N) group, Mg2+-free treated N (Mg2+-free N) group, control N+AST co-culture (Con N+AST) group and Mg2+-free treated N+AST co-culture (Mg2+-free N+AST) group. The Mg2+-free treated groups were exposed to Mg2+-free media for 3 hrs to induce a repeated spontaneous seizure-like discharge. The level of BDNF in each group at different time points was measured using ELISA.

RESULTSThe cellular morphous of AST changed in the Mg2+-free N+AST group at 48 hrs. Neuronal epileptiform activity was observed in the Mg2+-free media at 3 hrs, and continued to exist until the microenvironment returned to normal for 72 hrs. The BDNF level increased at 24 hrs and 48 hrs in the Con N+AST group compared with the control N group (P<0.05). Compared with Con N+AST group, BDNF level increased at 12, 24 and 48 hrs in the Mg2+-free N+AST group, especially at 12 and 24 hrs (P<0.01). There were no significant differences in the level of BDNF between the Con and Mg2+-free N groups. Compared with Mg2+-free N group, BDNF level increased at 24 hrs in the Mg2+-free N+AST group (P<0.05).

CONCLUSIONSThe results of the experiment suggest that BDNF in the Con N+AST group might be excreted from both N and AST, but chiefly from N. Activated AST may be the main source for increasing BDNF in the Mg2+-free N+AST group.

Animals ; Astrocytes ; chemistry ; Brain-Derived Neurotrophic Factor ; analysis ; Cellular Microenvironment ; Coculture Techniques ; Female ; Hippocampus ; chemistry ; Magnesium Deficiency ; metabolism ; Male ; Neurons ; chemistry ; Rats ; Rats, Wistar ; Seizures ; metabolism