11/26. A familial hypomagnesemia--hypercalciuria (Manz syndrome).We report a case of a rare inherited tubular disorder of linked transport of magnesium and calcium at the level of ascending limb of loop of henle, characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis, known as "Manz syndrome," who presented with polyuria, nystagmus and recurrent episodes of tetany with radiological evidence of rickets and nephrocalcinosis.- - - - - - - - - - ranking = 1keywords = limb (Clic here for more details about this article) |
12/26. nephrocalcinosis in siblings--familial hypomagnesemia, hypercalciuria with nephrocalcinosis (FHHNC syndrome).Familial Hypomagnesemia, hypercalciuria with nephrocalcinosis is a rare autosomal recessive inherited disease associated with renal failure. Two girls born of consanguineous parentage aged 16 and 17 presented to us with renal failure, nephrocalcinosis and bone deformities. On evaluation they were found to have hypomagnesemia, hypercalciuria, increased fractional excretion of magnesium, hypocitraturia, renal failure and elevated PTH. Their parental screening was normal. There were no extra-renal features in them. One sibling had nephrolithiasis and the stone analysis revealed calcium phosphate stones. Both were treated with sodium bicarbonate, thiazides, calcitriol and calcium carbonate. They did not require dialysis during hospital stay. Both of them were treated conservatively. They are on regular outpatient follow up. The primary defect in this syndrome is impaired paracellular reabsorption of magnesium and calcium in the medullary thick ascending limb. Mutations in the PCLN-1gene which encodes for the tight junction protein paracellin -1 is identified as the underlying genetic defect. Ocular abnormalities and deafness are the commonly reported associations. End stage renal failure usually occurs in second to third decade. Renal transplantation is the definite treatment.- - - - - - - - - - ranking = 1keywords = limb (Clic here for more details about this article) |
13/26. Cardioskeletal mitochondrial myopathy associated with chronic magnesium deficiency.A 3-year-old boy presenting with convulsions and carpopedal spasm had hypomagnesemia and hypermagnesuria due to congenital magnesium-losing nephropathy. Despite chronic oral and intermittent intravenous magnesium supplementation, he remained chronically hypomagnesemic. At age 4, he developed a progressive proximal myopathy and dilated hypertrophic cardiomyopathy that ultimately contributed to his death at age 14 years. Skeletal and cardiac muscle specimens showed a mitochondrial myopathy with increased numbers of enlarged, structurally abnormal mitochondria. Muscle magnesium content was markedly decreased. Chronic oral and intermittent intravenous magnesium supplementation may be inadequate to prevent the progressive cardioskeletal myopathy associated with the chronic magnesium deficiency of congenital magnesium-losing nephropathy.- - - - - - - - - - ranking = 5.1415095937272keywords = muscle (Clic here for more details about this article) |
14/26. Does magnesium play a role in the hypokalemia of Bartter's syndrome?A patient with Bartter's syndrome manifested hypomagnesemia in addition to hypokalemia. Under conditions of maximal free water production, he had a fractional distal solute reabsorption of 0.65, a value consistent with a renal defect in sodium chloride reabsorption in the thick ascending limb of the loop of henle. This is also the site of 65% to 70% of urinary magnesium reabsorption. With magnesium supplementation and amiloride, the urinary potassium decreased and the serum potassium increased. Atrial natriuretic peptide concentrations in the plasma were low. Evaluation of family members showed five of nine offspring had hypokalemia with no disorder in the parents, an apparent autosomal recessive mode of inheritance. This is a US government work. There are no restrictions on its use.- - - - - - - - - - ranking = 1keywords = limb (Clic here for more details about this article) |
15/26. Hypomagnesemia and bronchial hyperreactivity. A case report.In a 37-year-old woman, a heavy smoker and an alcoholic, bronchial hyperreactivity to histamine (PC20 FEV1 0.8 mg/ml) was related to hypomagnesemia (0.55 mmol/l). After acute magnesium repletion (24 h i.v. infusion MgSO4 6 g, serum magnesium 1.05 mmol/l), histamine PC20 FEV1 increased up to 9.8 mg/ml. The role of magnesium in modulating smooth muscle contractility is discussed and the importance of checking serum magnesium in patients with airway obstruction is suggested.- - - - - - - - - - ranking = 5.1415095937272keywords = muscle (Clic here for more details about this article) |
16/26. Severe renal osteodystrophy without elevated serum immunoreactive parathyroid hormone concentrations in hypomagnesemia due to renal magnesium wasting.An 8 1/2-year-old girl presented with a long history of seizures, growth retardation, muscle weakness, gait disturbance, and hearing loss. Her evaluation revealed chronic moderate renal failure (serum creatinine 2.2 mg/dL), severe hypocalcemia (5 mg/dL), hyperphosphatemia (8.1 mg/dL), hypomagnesemia (1.5 mg/dL), increased urinary magnesium excretion (2 mg/kg/d), high fractional excretion of magnesium (21.7%), hypokalemia (3.2 mEq/L), and hyperkaliuria (26 mEq/L). Low circulating immunoreactive parathyroid hormone levels for the degree of the hypocalcemia (serum N-parathyroid hormone 212 pg/mL) and severe rickets without evidence of osteitis fibrosa cystica were found. The patient probably has primary renal leak hypomagnesemia (magnesuric hypomagnesemia) which caused impaired secretion of immunoreactive parathyroid hormone leading to severe hypocalcemia and calcium deficiency rickets. Treatment with magnesium and calcium supplements, calcitriol, and aluminum hydroxide resulted in marked clinical, biochemical, and radiologic improvement. Calcium deficiency rickets due to primary or secondary renal magnesium wasting in conjunction with moderate renal failure represents a largely unrecognized metabolic bone disease.- - - - - - - - - - ranking = 5.1415095937272keywords = muscle (Clic here for more details about this article) |
17/26. magnesium deficiency in human subjects--a personal historical perspective.Over the past 30 years human magnesium (Mg) deficiency has become an accepted fact in most medical circles. Our index patient had striking neurological manifestations including generalized tremulousness, grimaces and fibrillary twitches of facial muscles, athetoid and choreiform movements of upper extremities, dysphagia, inability to speak, repeated convulsions, and confusion. She had received glucose in water and saline intravenously for several months. A patient with chronic alcoholism was noted to have almost identical symptoms and signs as the index patient. He also responded dramatically to MgSO4 injections. This resulted in a series of studies on patients with chronic alcoholism. The evidence of Mg deficiency in alcoholism includes the following: significant hypomagnesemia, strongly positive Mg balance during recovery, significant decrease in muscle Mg, a deficit of total exchangeable 28Mg quantitatively similar to deficit by balance studies, often a dramatic response of symptoms to therapy with Mg, and diuresis of Mg produced by ingestion of alcohol. lipolysis with high levels of long-chain free fatty acids (FFA) occurs in withdrawal of alcohol in chronic alcoholism, withdrawal of certain addictive drugs, after trauma, surgery, administration of adrenergic compounds or theophylline, exposure to cold, and an adverse environment as in grass staggers. Concentrations of Mg fall when FFA increase in all of the above circumstances. This phenomenon has wide implications in health and disease. Better awareness of Mg deficiency in a wide variety of clinical conditions will result in life-saving treatment and less morbidity of other patients.- - - - - - - - - - ranking = 10.283019187454keywords = muscle (Clic here for more details about this article) |
18/26. Effects on muscle electrolytes of potassium and magnesium infusions, spironolactone medication and operation in a case of primary aldosteronism.serum and muscle electrolytes were determined in a case of primary aldosteronism before and after potassium and magnesium infusions as well as spironolactone treatment and following surgery. Repeated potassium infusions resulted in a transient normalization of the muscle potassium (K/m), followed within 3-4 days by a return to the previously low K/m. Magnesium infusions did not give any increase in muscle magnesium (Mg/m). On the contrary, there was a decrease in Mg/m concomitant with a decrease in K/m. Treatment with spironolactone for one month was followed by a normalization of both serum and muscle electrolytes. Following surgery the serum potassium and K/m remained normal, but the serum magnesium (Mg/s) and Mg/m showed a decrease to subnormal values. Despite the initial findings of normal Mg/s and Mg/m as well as excretion of more than 80% of the i.v. magnesium dose, this may indicate that there was a magnesium deficiency in the skeletal pool.- - - - - - - - - - ranking = 41.132076749818keywords = muscle (Clic here for more details about this article) |
19/26. magnesium deficiency contributing to ventricular tachycardia. Two case reports.Two cases of ventricular tachycardia (VT), possibly caused by magnesium deficiency, are presented. Skeletal muscle biopsies and blood samples were taken before and after magnesium infusions. These infusions resulted in a significant retention of magnesium, and the VT attacks vanished permanently in one case and temporarily in the other.- - - - - - - - - - ranking = 5.1415095937272keywords = muscle (Clic here for more details about this article) |
20/26. The cardiomyopathy of hypoparathyroidism. Another reversible form of heart muscle disease.A patient with traumatic hypoparathyroidism had cardiomyopathy and congestive heart failure. The patient had no history of preexisting cardiac disease, alcohol abuse, hyperthyroidism, or hypothyroidism and improved greatly with treatment of hypoparathyroidism. We suggest that the cardiomyopathy seen in hypoparathyroidism. We suggest that the cardiomyopathy seen in hypoparathyroidism is due to many factors, but that hypocalcemia and possibly hypomagnesemia are especially important, and that correction of calcium and magnesium deficiencies may result in near-normal cardiac function.- - - - - - - - - - ranking = 20.566038374909keywords = muscle (Clic here for more details about this article) |
| <- Previous || Next -> |