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1.
The challenges of diagnosis and management of Gitelman syndrome.
Urwin, S, Willows, J, Sayer, JA
Clinical endocrinology. 2020;(1):3-10
Abstract
Gitelman syndrome is an inherited tubulopathy characterized by renal salt wasting from the distal convoluted tubule. Defects in the sodium chloride cotransporter (encoded by SLC12A3) underlie this autosomal recessive condition. This article focuses on the specific challenges of diagnosing and treating Gitelman syndrome, with use of an illustrative case report. Symptoms relate to decreased serum potassium and magnesium levels, which include muscle weakness, tetany, fatigue and palpitations. Sudden cardiac deaths have been reported. Making a diagnosis may be difficult given its rarity but is important. A knowledge of the serum and urine biochemical picture is vital to distinguish it from a broad differential diagnosis, and application of genetic testing can resolve difficult cases. There is a group of Gitelman syndrome heterozygous carriers that experience symptoms and electrolyte disturbance and these patients should be managed in a similar way, though here genetic investigations become key in securing a difficult diagnosis. Potassium and magnesium replacement is the cornerstone of treatment, though practically this can be hard for patients to manage and often does not fully relieve symptoms even when serum levels are normalized. Challenges arise due to the lack of randomized controlled trials focussing on treatment of this rare disease; hence, clinicians endorse strategies in line with correction of the underlying pathophysiology such as sodium loading or pharmacological treatments, which seem to help some patients. Focussed dietary advice and knowing the best tolerated preparations of potassium and magnesium medications are useful tools for the physician, as well as an awareness of the specific burdens that this patient group face in order to signpost appropriate support.
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2.
Neuromuscular tetanic hyperexcitability syndrome associated to a heterozygous Kv1.1 N255D mutation with normal serum magnesium levels.
Bianchi, F, Simoncini, C, Brugnoni, R, Ricci, G, Siciliano, G
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. 2020;(1):36-39
Abstract
Mutations of the main voltage-gated K channel members Kv1.1 are linked to several clinical conditions, such as periodic ataxia type 1, myokymia and seizure disorders. Due to their role in active magnesium reabsorption through the renal distal convoluted tubule segment, mutations in the KCNA1 gene encoding for Kv1.1 has been associated with hypomagnesemia with myokymia and tetanic crises. Here we describe a case of a young female patient who came to our attention for a history of muscular spasms, tetanic episodes and muscle weakness, initially misdiagnosed for fibromyalgia. After a genetic screening she was found to be carrier of the c.736A > G (p.Asn255Asp) mutation in KCNA1, previously described in a family with autosomal dominant hypomagnesemia with muscular spasms, myokymia and tetanic episodes. However, our patient has always presented normal serum and urinary magnesium values, whereas she was affected by hypocalcemia. Calcium supplementation gave only partial clinical benefit, with an improvement on tetanic episodes yet without a clinical remission of her spasms, whereas magnesium supplementation worsened her muscular symptomatology.
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3.
Fatal Hypermagnesemia Due to Laxative Use.
Bokhari, SR, Siriki, R, Teran, FJ, Batuman, V
The American journal of the medical sciences. 2018;(4):390-395
Abstract
We report a case of fatal hypermagnesemia in a 53-year-old woman admitted for acute exacerbation of chronic obstructive pulmonary disease and with a history of chronic constipation treated regularly with magnesium-containing laxatives. On admission, her magnesium level was 2.0mg/dL, which rose to a peak of 10.8mg/dL despite hydration and diuresis in the presence of a normal kidney function. Continuous renal replacement therapy was promptly initiated, which reduced her serum magnesium levels, but her condition continued to deteriorate precipitously progressing to shock leading to oligoanuric renal failure, and she died 2 days later. A review of the literature shows that though rare and often unsuspected, severe hypermagnesemia frequently results in death even in individuals with normal renal function despite renal replacement therapy. In patients with constipation, retention of magnesium-based laxative in the gut apparently serves as a reservoir for continuous magnesium absorption and contributes to mortality.
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4.
[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].
He, TY, Xia, Y, Li, CG, Li, CR, Qi, ZX, Yang, J
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2018;(1):48-52
Abstract
Objective: To investigate the clinical features and genetic characteristics of cases with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN). Methods: Characteristics of clinical material, immunological data and gene mutation of two cases with XMEN in the same family in China were retrospectively analyzed. The related reports literature were searched by using search terms'MAGT1 gene'or'XMEN'. Results: The proband, a 2-year-eight-month old boy, was admitted due to 'Urine with deepened color for two days and yellow stained skin for one day'. He had suffered from recurrent upper respiratory tract infection and sinusitis previously. Hemoglobin level was 38 g/L. The absolute count of reticulocytes was 223.2×10(9)/L. Urobilinogen level was 38 μmol/L (3-16 μmol/L). Coomb's test was positive. Both total (77.2 μmol/L) and indirect bilirubin (66 μmol/L) levels were elevated. There was an inverted CD4(+)/CD8(+)T cell ratio (0.89). The gene sequencing results showed MAGT1 gene c.472delG, p.D158Mfs*6 mutation. His 1-year-6-month old brother, was also identified to have MAGT1 gene c.472delG, p.D158Mfs*6 mutation.The younger brother mainly suffered from recurrent upper respiratory tract infection, accompanied by an inverted CD4(+)/CD8(+)T cell ratio (0.45), an elevated ratio and number of total B cells (45.7%). A total of 7 reports were retrieved including 11 male cases caused by MAGT1 gene mutation. These 11 cases were characterized by EBV viremia (11 cases), recurrent upper respiratory tract infection, otitis media or sinusitis (10 cases), secondary neoplasia diseases (8 cases), reduction of CD4(+)/CD8(+) T cell ratio (7 cases),and autoimmune thrombocytopenia or hemolytic anemia (2 cases). Conclusion: XMEN often manifests as male onset, recurrent upper respiratory tract infection, otitis media or sinusitis, EBV viremia, lymphoproliferative disease or lymphoma, autoimmune diseases and reduction of CD4(+)/CD8 (+)T cell ratio. NKG2D expression in NK cells is significantly reduced, and gene sequencing analysis shows a pathogenic mutation in MAGT1 gene.
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5.
Proton pump inhibitors and symptomatic hypomagnesemic hypoparathyroidism.
Fatuzzo, P, Portale, G, Scollo, V, Zanoli, L, Granata, A
Journal of nephrology. 2017;(2):297-301
Abstract
Hypomagnesemia is a common but often overlooked problem in hospitalized patients. Unrecognized hypomagnesemia can cause serious complications. The association of hypokalemia and hypocalcemia is strongly evocative of a magnesium deficiency. Research into the causes of hypomagnesemia is imperative, as it will definitely change the approach, treatment and prognosis. We report the case of a 65-year-old man with chronic hypocalcemia and hypokalemia associated with cerebellar syndrome, a solitary seizure and cerebellar hyperintensities on magnetic resonance imaging. After the detection and treatment of hypomagnesemia with oral supplements of magnesium and the replacement of pantoprazole with ranitidine, we observed immediate relief of the symptoms. In conclusion, in clinical practice, magnesium depletion should be investigated in elderly patients with hypocalcemia treated with proton pump inhibitors for many years, in particular in the presence of neurological disorders.
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6.
Towards evidence-based emergency medicine: best BETs from the Manchester Royal Infirmary. BET 3. Elevation of serum magnesium may improve clinical outcome after aneursymal subarachnoid haemorrhage.
Horner, D
Emergency medicine journal : EMJ. 2011;(2):166-8
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7.
Fetal ventricular tachycardia secondary to long QT syndrome treated with maternal intravenous magnesium: case report and review of the literature.
Simpson, JM, Maxwell, D, Rosenthal, E, Gill, H
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2009;(4):475-80
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Abstract
Ventricular tachycardia is a very rare fetal arrhythmia accounting for fewer than 2% of fetal tachycardias. We describe a fetus presenting at 30 weeks' gestation with ventricular tachycardia at a rate of 220 beats per min and fetal hydrops. The tachycardia was unresponsive to flecainide but was controlled within 12 h by an intravenous infusion of magnesium to the mother. Despite rapid control of the arrhythmia the fetus developed severe periventricular leukomalacia before birth for which a poor neurological prognosis was given. The baby was delivered preterm at 32 weeks' gestation and died on the sixth day after birth. Long QT syndrome was identified postnatally on the electrocardiogram, and was confirmed by genetic testing which showed a mutation in the KCNH2 gene (p.T613M).
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8.
[Magnesium homeostasis. Etiopathogeny, clinical diagnosis and treatment of hypomagnesaemia. A case study].
González, EP, Santos, F, Coto, E
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia. 2009;(6):518-24
Abstract
Magnesium is the fourth-most abundant cation in the human body and the second-most abundant intracellular cation after potassium. Magnesium is pivotal in the transfer, storage, and utilization of energy as it regulates and catalyzes more than 300 enzyme systems. Hypomagnesemia may thus result in a variety of metabolic abnormalities and clinical consequences. It results from an imbalance between gastrointestinal absorption and renal excretion of magnesium. The main consequence related directly to hypomagnesemia is cardiovascular arrhythmias secondary to hipokaliemia and if this is not recognized and treated it may be fatal. In this article we review the hypomagnesemic disorders in children with emphasis on the molecular mechanisms responsible for abnormalities in magnesium homeostasis, differential diagnosis and appropriate therapy, and we describe the clinical and biochemical manifestations as well as the genetic defect in a family with Gitelman syndrome.
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9.
Milk alkali syndrome associated with excessive ingestion of Rennie: case reports.
Irtiza-Ali, A, Waldek, S, Lamerton, E, Pennell, A, Kalra, PA
Journal of renal care. 2008;(2):64-7
Abstract
Milk alkali syndrome is a cause of hypercalcaemia, renal failure and alkalosis, and is potentially reversible if detected early and the calcium and alkali source withdrawn. It was originally described in patients ingesting large amounts of calcium containing milk for the treatment of peptic ulcer disease. We present a modern day version of the syndrome in three cases which were associated with excessive intake of Rennie, a calcium carbonate containing antacid.
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10.
Cathartic-induced fatal hypermagnesemia in the elderly.
Onishi, S, Yoshino, S
Internal medicine (Tokyo, Japan). 2006;(4):207-10
Abstract
Symptomatic hypermagnesemia is rare and can be induced by exogenous magnesium-containing cathartics or antacids. We report a patient with hypermagnesemia. The patient was treated with continuous hemodiafiltration (CHDF); however, he died on the 4th hospital day. Hypermagnesemia is not easily detected because the magnesium level is not examined during routine investigations, and many physicians are relatively unfamiliar with hypermagnesemia. Hypermagnesemia should be considered in elderly patients presenting with hypotension, bradycardia, hyporeflexia, or respiratory depression, and particularly in patients with abnormal renal function or small bowel hypomotility. Magnesium-containing cathartics or antacids should be used more carefully in the elderly.