Causes Of Hypomagnesemia Research Articles

A Rare Compound Heterozygous Mutation of TRPM6 Gene in Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Cause of Refractory Seizures in an Infant

Background: Hypomagnesemia is an important cause of refractory hypocalcemic seizures. Among the causes of hypomagnesemia, genetic defects are rare. Clinical Description: A 20-month-old boy presented with a history of repeated hypocalcemic convulsions since 1 month of age. Besides seizures, the infant was thriving well and otherwise asymptomatic. Management and Outcome: On investigation, he had low serum calcium, normal vitamin D, low parathormone, and very low serum magnesium (0.5 mg/dl) levels, with normal sodium, potassium levels, and renal functions. The child was initiated on parenteral magnesium supplementation and subsequently discharged on high-dose oral magnesium supplementation. As further investigations ruled out common causes of hypomagnesemia, clinical exome sequencing was done, which revealed a compound heterozygous state with two variants in the TRPM6 gene NM_017662.5, one being a missense variant (chr9: c.5614T>C, [p.Trp1872Arg]/Heterozygous) and the other being a frameshift deletion (chr9: c.1939_1946delGCAATGGC, [p.Ala647Profs*2]/Heterozygous). The child maintained normal serum magnesium levels at follow-up and was seizure-free. Conclusion: Hereditary hypomagnesemia with secondary hypocalcemia is a rare cause of refractory seizures with onset since early infancy. Here, a compound heterozygous variant of the TRPM6 gene was identified as the cause of this condition.

ROLE OF TOBACCO SMOKING IN CAUSING HYPOMAGNESEMIA AND RHEUMATOID ARTHRITIS

Rheumatoid arthritis (RA) is a type of immune system disorders that badly affect patient’s quality of life. The onset of disease constitutes a complex pathological process, and several mechanisms and triggers are proposed in the development of this disease. Magnesium (Mg) is an important trace element that plays a role in normal functioning of immune system. The deficiency of magnesium is found to be related to abnormal T-cells functions leading to secretion of pro-inflammatory chemicals such as interleukin-1 (IL-1), interleukin-6 (IL-6), tumour necrosis factor alpha (TNF-?) and histamine. Similarly, hypomagnesaemia also causes an increase in intracellular calcium level that leads to hyperactivation of phagocytes which are the first line of defence of our immune system. Tobacco smoking is a cause of hypomagnesemia in susceptible patients. The association between tobacco smoking and onset of rheumatoid arthritis is statistically significant in those who are smoking, even for less than 10 years. Pak J Physiol 2021;17(2):46–50

Genetic and drug-induced hypomagnesemia: different cause, same mechanism.

Magnesium (Mg2+) plays an essential role in many biological processes. Mg2+ deficiency is therefore associated with a wide range of clinical effects including muscle cramps, fatigue, seizures and arrhythmias. To maintain sufficient Mg2+ levels, (re)absorption of Mg2+ in the intestine and kidney is tightly regulated. Genetic defects that disturb Mg2+ uptake pathways, as well as drugs interfering with Mg2+ (re)absorption cause hypomagnesemia. The aim of this review is to provide an overview of the molecular mechanisms underlying genetic and drug-induced Mg2+ deficiencies. This leads to the identification of four main mechanisms that are affected by hypomagnesemia-causing mutations or drugs: luminal transient receptor potential melastatin type 6/7-mediated Mg2+ uptake, paracellular Mg2+ reabsorption in the thick ascending limb of Henle's loop, structural integrity of the distal convoluted tubule and Na+-dependent Mg2+ extrusion driven by the Na+/K+-ATPase. Our analysis demonstrates that genetic and drug-induced causes of hypomagnesemia share common molecular mechanisms. Targeting these shared pathways can lead to novel treatment options for patients with hypomagnesemia.

HYPOMAGNESEMIA AND PROLONGED HOSPITAL STAY: A CASE REPORT AND LITERATURE REVIEW

Hypomagnesemia is a common finding in hospitalized patients mostly overlooked and rarely given as much attention as other electrolyte disturbances. This case report and literature review highlight how hypomagnesemia is common in patients who have a prolonged hospital stay. in addition, we highlight the multiple causes of hypomagnesemia and discuss them further with a literature review.

Hypomagnesemia in the Cancer Patient.

Hypomagnesemia is a common medical problem that contributes to the morbidity and mortality of patients with cancer. This review summarizes magnesium physiology and highlights the mechanisms underlying magnesium disturbances due to cancer and cancer treatment. The causes of hypomagnesemia can be categorized according to the pathophysiologic mechanism: decreased intake, transcellular shift, gastrointestinal losses, and kidney losses. Patients with cancer are at risk for opportunistic infections, frequently experience cardiovascular complications, and often receive classes of medications that cause or exacerbate hypomagnesemia. Also, cancer-specific therapies are responsible for hypomagnesemia, including platinum-based chemotherapy, anti-EGF receptor mAbs, human EGF receptor-2 target inhibitors (HER2), and calcineurin inhibitors. Urinary indices, such as the fractional excretion of magnesium, can provide useful information about the etiology. The management of hypomagnesemia depends on the magnitude of hypomagnesemia and the underlying cause. We recommended checking serum magnesium at the beginning of treatment and as part of routine monitoring throughout cancer treatment. Opportunities exist for potential research and practice improvement, including further characterization of hypomagnesemia regarding the clinical effect on cancer outcomes, preventing hypomagnesemia in patients receiving high-risk anticancer agents, and developing effective therapeutic strategies.

The Role of Magnesium in Pregnancy and in Fetal Programming of Adult Diseases

Magnesium is an essential trace metal and a necessary factor for multiple biochemical functions in humans. Its role in biology is fundamental in over 600 enzymatic reactions implicated in protein synthesis, mitochondrial functions, neuromuscular activity, bone formation, and immune system competence. Magnesium status is relevant in fetal development during gestation and in the newborn growth during the perinatal period. Moreover, magnesium is able to influence fetal programming and disease presentation in childhood or adulthood. The aim of this review is to focus on this metal homeostasis, analyzing its normal values, the causes of hypomagnesemia, the interaction with drugs and other conditions, and the diseases associated with magnesium value alteration during pregnancy, in order to study its role in fetal programming of adult diseases. The data here reported clearly indicated the existence of a connection between magnesium status and human pathology starting from intrauterine life and extending into childhood and adulthood.

NaCl cotransporter activity and Mg2+ handling by the distal convoluted tubule.

The genetic disease Gitelman syndrome, knockout mice, and pharmacological blockade with thiazide diuretics have revealed that reduced activity of the NaCl cotransporter (NCC) promotes renal Mg2+ wasting. NCC is expressed along the distal convoluted tubule (DCT), and its activity determines Mg2+ entry into DCT cells through transient receptor potential channel subfamily M member 6 (TRPM6). Several other genetic forms of hypomagnesemia lower the drive for Mg2+ entry by inhibiting activity of basolateral Na+-K+-ATPase, and reduced NCC activity may do the same. Lower intracellular Mg2+ may promote further Mg2+ loss by directly decreasing activity of Na+-K+-ATPase. Lower intracellular Mg2+ may also lower Na+-K+-ATPase indirectly by downregulating NCC. Lower NCC activity also induces atrophy of DCT cells, decreasing the available number of TRPM6 channels. Conversely, a mouse model with increased NCC activity was recently shown to display normal Mg2+ handling. Moreover, recent studies have identified calcineurin and uromodulin (UMOD) as regulators of both NCC and Mg2+ handling by the DCT. Calcineurin inhibitors paradoxically cause hypomagnesemia in a state of NCC activation, but this may be related to direct effects on TRPM6 gene expression. In Umod-/- mice, the cause of hypomagnesemia may be partly due to both decreased NCC expression and lower TRPM6 expression on the cell surface. This mini-review discusses these new findings and the possible role of altered Na+ flux through NCC and ultimately Na+-K+-ATPase in Mg2+ reabsorption by the DCT.

Prevention of hypomagnesemia in critically ill patients with acute kidney injury on continuous kidney replacement therapy: the role of early supplementation and close monitoring.

Hypomagnesemia is a common electrolyte disorder in critically ill patients and is associated with increased morbidity and mortality risk. Many clinical conditions may contribute to hypomagnesemia through different pathogenetic mechanisms. In patients with acute kidney injury (AKI) the need for continuous or prolonged intermittent kidney replacement therapy (CKRT and PIKRT, respectively) may further add to other causes of hypomagnesemia, especially when regional citrate anticoagulation (RCA) is used. The basic principle of RCA is chelation of ionized calcium by citrate within the extracorporeal circuit, thus blocking the coagulation cascade. Magnesium, a divalent cation, follows the same fate as calcium; the amount lost in the effluent includes both magnesium-citrate complexes and the free fraction directly diffusing through the hemofilter. While increasing the magnesium content of dialysis/replacement solutions may decrease the risk of hypomagnesemia, the optimal concentration for the variable combination of solutions adopted in different KRT protocols has not yet been identified. An alternative and effective approach is based on including early intravenous magnesium supplementation in the KRT protocol, and close monitoring of serum magnesium levels, especially in the setting of RCA. Thus, strategies aimed at precisely tailoring both dialysis prescriptions and the composition of KRT fluids, as well as early magnesium supplementation and close monitoring, could represent a cornerstone in reducing KRT-related hypomagnesemia.

MON-331 Hypomagnesemia: A Preventable Electrolyte Disturbance from Epidermal Growth Factor Receptor Inhibitors

Chemotherapy is a part of the treatment regimen for many different types of cancers and plays a foundational role in treating cancers. With an advent of epidermal growth factor (EGFR) inhibitor and its promising results, it has been widely incorporated in cancer treatment regimen. However, this monoclonal antibody has potential adverse drug reactions especially renal tubular toxicity. Since magnesium is one of the electrolytes that is highly regulated by renal tubular cells, hypomagnesemia is a common electrolyte disturbance in cancer patients. However, the cause of hypomagnesemia may be overlooked. Adequate magnesium supplement in a timely manner can prevent the consequences of hypomagnesemia. We report a case of an elderly man with newly diagnosed squamous cell carcinoma of the tongue with persistent hypomagnesemia after initiation of cetuximab. Magnesium supplement prevented severe hypomagnesemia and maintained serum magnesium. A 77-year-old Caucasian man with stage 3 chronic kidney disease was diagnosed with p16+ poorly differentiated invasive squamous cell carcinoma (cT2-3N2Mx) with basaloid features on the base of the tongue and received cetuximab. He developed acute kidney injury with an elevated serum creatinine up to 2 mg/dL from the baseline serum creatinine of 1.5 to 1.7 mg/dL. He had poor oral intake due to oropharyngeal lesions requiring nutritional supplementation via gastrostomy tube and intermittent intravenous 0.9% sodium chloride infusion. Since starting cetuximab, he had intermittent diarrhea and muscle weakness. Magnesium oxide 400 mg oral daily was an since initiation of cetuximab when serum magnesium a to decrease to 1.7 mg/dL. Throughout in timely months of cetuximab therapy, he had persistent borderline hypomagnesemia with a serum magnesium of 1.4 to 2.2 mg/dL despite receiving an increased magnesium oxide of 400 mg twice a day. Fractional excretion of magnesium (FEMg) was 12.2%. After completion of cetuximab therapy, his serum magnesium became normalized and serum creatinine trended down to 1.6 mg/dL. N/A Our patient started having hypomagnesemia since he received cetuximab therapy. Although there are several potential causes of hypomagnesemia including poor oral intake and diarrhea, high FEMg indicates renal magnesium wasting. Muscle weakness can a by persistent hypomagnesemia. Cetuximab, an EGFR inhibitor, causes impaired distal tubular magnesium reabsorption by inhibiting EGFR receptor at the basolateral membrane of the distal renal tubular epithelial cells which lead to inadequate activation of magnesium channel TRPM6, and subsequently renal magnesium loss. With an increase in the prevalence of malignancy, new chemotherapy agents have been incorporated widely in the cancer treatment, especially EFGR inhibitors. Magnesium plays an important role in maintaining normal cell function and hypomagnesemia results in neuromuscular, cardiovascular and metabolic manifestations. Therefore, proactive magnesium supplement can mitigate these serious consequences of hypomagnesemia until the chemotherapy is completed and hypomagnesemia is normalized.

Extreme hypomagnesemia: characteristics of 119 consecutive inpatients

Extreme hypomagnesemia (hypoMg) can be encountered in many situations, but little data currently exist. Our aim is to describe the epidemiological, clinical, etiological characteristics, and the biological abnormalities of consecutive inpatients with extreme hypomagnesemia. In our observational monocentric study, between 1st July 2000 and April 2015, all inpatients with extreme hypomagnesemia, defined by at least one plasma magnesium concentration (PMg) below 0.3mmol/L, were included. Demographic, clinical, biological characteristics and the drugs prescribed before the qualifying PMg measurement were retrospectively collected. 41,069 patients had at least one PMg assessment. The prevalence of extreme hypomagnesemia is 0.3% (119 inpatients). The median age is 70years, 52% are women. The patients were mainly hospitalized in intensive care (n = 37, 31.1%), oncology (n = 21, 17.6%), gastroenterology (n = 18, 15.1%) and internal medicine (n = 16, 13.4%) departments. One hundred patients (84%) had a medical history of gastrointestinal disease (39% with bowel resections, 24% with stoma), and 50 (42%) had a cancer history. The drugs most commonly prescribed (known to induce hypoMg) are proton pump inhibitors (PPI) (n = 77, 70%), immunosuppressive regimens (n = 25, 22.5%), platinum salt-based chemotherapies (n = 19, 17.1%), and diuretics (n = 22, 19.8%). The suspected causes of hypomagnesemia are often multiple, but drugs (46%, including PPI in 19%) and chronic gastrointestinal disorders (37%) are prominent. Associated electrolyte disturbances include hypocalcemia (77%) and mild hypokalemia (51%). The 1-month mortality from all causes is 16%. Extreme hypomagnesemia is rare in inpatients, and is frequently associated with severe hypocalcemia. Digestive disorders and drugs are the main contributory causes.

Hypomagnesemia Tetany in Cattle

Grass tetany, sometimes called grass staggers or hypomagnesemia, can be a serious problem in Syria with cattle grazing small grain or ryegrass pastures. hypomagnesemia tetany has been known under a variety of names, including magnesium tetany, lactation tetany and grass staggers, but most of these terms have been discarded because the disease is not always associated with lactation or with grazing animals. The exact cause of hypomagnesemia tetany in ruminant animals is a dietary deficiency of magnesium that may be a contributory factor. Some research workers consider the condition to be caused by a cation-anion imbalance in the diet, and Some research workers believe that high intake of the element (K & Na) may interfere with the absorption and metabolism of magnesium in the animal, which may be an important factor in the etiology of hypomagnesemia tetany. Although the exact cause of hypomagnesemia is still uncertain, the primary factor would appear to be inadequate absorption of magnesium from the digestive tract. A high degree of success in preventing hypomagnesemia may be obtained by increasing the magnesium intake. This can be effected by feeding with magnesium rich mineral mixtures or, alternatively, by increasing the magnesium content of pasture by the application of magnesium fertilizers.

Mechanisms and causes of hypomagnesemia.

Identification of the mechanisms of magnesium absorption and reabsorption has markedly enhanced our understanding of the causes of hypomagnesemia. New gastrointestinal and renal causes of hypomagnesemia have been recently documented. The recognition of new mechanisms and causes of magnesium absorption and reabsorption should enhance the ability to monitor patients at risk for hypomagnesemia and improve our ability to mitigate the serious symptoms associated with this disorder.

Obesity and hypomagnesemia

BackgroundWhether low serum magnesium is an epiphenomenon related with obesity or, whether obesity per se is cause of hypomagnesemia, remains to be clarified. ObjectiveTo examine the relationship between body weight status and hypomagnesemia in apparently healthy subjects. MethodsA total of 681 healthy individuals aged 30 to 65years were enrolled in A cross-sectional study. Extreme exercise, chronic diarrhea, alcohol intake, use of diuretics, smoking, oral magnesium supplementation, diabetes, malnutrition, hypertension, liver disease, thyroid disorders, and renal damage were exclusion criteria. Based in the Body Mass Index (BMI), body weight status was defined as follows: normal weight (BMI <25kg/m2); overweight (BMI ≥25<30 BMIkg/m2); and obesity (BMI ≥30kg/m2). Hypomagnesemia was defined by serum magnesium concentration ≤0.74mmol/L. A multiple logistic regression analysis was used to compute the odds ratio (OR) between body weight status (independent variables) and hypomagnesemia (dependent variable). ResultsThe multivariate logistic regression analysis showed that dietary magnesium intake (OR 2.11; 95%CI 1.4–5.7) but no obesity (OR 1.53; 95%CI 0.9–2.5), overweight (OR 1.40; 95%CI 0.8–2.4), and normal weight (OR 0.78; 95%CI 0.6–2.09) were associated with hypomagnesemia. A subsequent logistic regression analysis adjusted by body mass index, waist circumference, total body fat, systolic and diastolic blood pressure, and triglycerides levels showed that hyperglycemia (2.19; 95%CI 1.1–7.0) and dietary magnesium intake (2.21; 95%CI 1.1–8.9) remained associated with hypomagnesemia. ConclusionsOur results show that body weight status is not associated with hypomagnesemia and that, irrespective of obesity, hyperglycemia is cause of hypomagnesemia in non-diabetic individuals.

Seizures Related to Hypomagnesemia: A Case Series and Review of the Literature.

Objective:Childhood seizures have various nonneurological etiologies. The patient’s magnesium levels should be measured when evaluating afebrile seizures. The purpose of the current case series is to describe a systematic approach for diagnosing hypomagnesemia using 3 recent patient cases.Methods:This case series describes 3 patients with unprovoked hypomagnesemia-associated seizures. The authors describe the differential diagnosis, pathophysiology, and the workup of hypomagnesemia-associated seizures.Results:Hypomagnesemia contributed to the cause of the seizures in all 3 cases. Various causes of hypomagnesemia were investigated, including genetic etiologies. All 3 patients were maintained at a magnesium level >0.65 mmol/L, which improved or eliminated the seizures.Significance:Magnesium levels should always be measured when trying to determine the etiology of seizures. Hypomagnesemia and afebrile seizures should be treated with the goal of maintaining a magnesium concentration >0.65 mmol/L. Although rare, genetic causes of hypomagnesemia should be considered, once common causes of hypomagnesemia are ruled out.

Woman with Hypomagnesemia and Hypocalcemia

A 71-year-old woman was referred to the endocrinology clinic after several years of unresolved hypomagnesemia that required numerous hospital admissions to receive intravenous magnesium. She previously presented with palpitations on 3 occasions, and once with diarrhea and vomiting. The blood tests on all 4 presentations demonstrated severe hypomagnesemia (Table 1). View this table: Table 1. Laboratory results during previous visits.a Her medical history included type 2 diabetes mellitus and hiatal hernia. Her regular medications included simvastatin, esomeprazole, verapamil, pioglitazone, gliclazide, metformin, and calcium, magnesium, and vitamin D supplementation. Clinical examination in the endocrinology clinic was unremarkable, and no abnormality was demonstrated on electrocardiogram. An echocardiogram was normal. Laboratory results at this visit included serum magnesium 0.52 mg/dL (0.21 mmol/L) [reference interval 1.7–2.4 mg/dL (0.7–1.0 mmol/L)] and serum calcium 6.84 mg/dL (1.71 mmol/L) [reference interval 8.8–10.6 mg/dL (2.20–2.65 mmol/L)]. Serum albumin was 35 g/L (reference interval 35–52 g/L). The results of her other biochemical tests were unremarkable. Twenty-four-hour urine magnesium excretion was undetectable [reference interval 0.5–1.2 mg/dL (0.2–5.0 mmol/24 h)], as was random urine magnesium [<0.25 mg/dL (<0.1 mmol/L)]. Intact parathyroid hormone (PTH)3 was 20 ng/L (reference interval 15–88 ng/L), inappropriately low in the presence of hypocalcemia. All analytes were measured with a Beckman Olympus AU2700 general chemistry analyzer with the exception of intact PTH, which was measured with a Beckman Coulter Access II. The patient gave full written consent for the use of her clinical information and laboratory tests for the purposes of a case report in the medical literature. ### QUESTIONS TO CONSIDER 1. What are the common causes of hypomagnesemia? 2. Are any of the patient's medications potential causes of hypomagnesemia? 3. What effect does magnesium have on calcium and parathyroid hormone? The patient was advised to stop …

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

Despite recent progress in our understanding of renal magnesium (Mg(2+)) handling, the molecular mechanisms accounting for transepithelial Mg(2+) transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg(2+) channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg(2+) levels (<0.4 mmol/l) accompanied by low serum calcium (Ca(2+)) concentrations. A proportion of previously described TRPM6 mutations lead to a truncated TRPM6 protein resulting in a complete loss-of-function of the ion channel. In addition, five-point mutations have been previously described. The aim of this study was to complement the current clinical picture by adding the molecular data from five new missense mutations found in five patients with HSH. To this end, patch-clamp analysis and cell surface measurements were performed to assess the effect of the various mutations on TRPM6 channel function. All mutant channels, expressed in HEK293 cells, showed loss-of-function, whereas no severe trafficking impairment to the plasma membrane surface was observed. We conclude that the new TRPM6 missense mutations lead to dysregulated intestinal/renal Mg(2+) (re)absorption as a consequence of loss of TRPM6 channel function.

Evaluation of Hypomagnesemia: Lessons From Disorders of Tubular Transport

Hypomagnesemia is a highly prevalent clinical condition affecting a large number of hospitalized patients. A decrease in systemic magnesium concentration may lead to impaired function of both neurologic and cardiovascular systems. The kidney has a pivotal role in magnesium handling by adjusting the urinary excretion of this ion in order to maintain systemic concentrations within a narrow range. As such, the cause of hypomagnesemia can be related to increments in the renal excretion of this cation. Many hypomagnesemic disorders also have characteristic changes in the renal reabsorptive capacity for other electrolytes, leading to symptoms that sometimes obscure the clinical presentation. For instance, changes in serum calcium concentration or its urinary excretion can aid in determining the underlying cause. Moreover, hypokalemia due to renal potassium losses often is associated with hypomagnesemia. Genetic defects in pathways controlling renal electrolyte transport impose the hypomagnesemic condition by facilitating renal losses. The discovery of the causative genes has greatly increased our understanding of how magnesium is transported by the kidney. Such knowledge is integral for the continued improvement of patient care with respect to bettering therapies and diagnosis.

Hypomagnesemia in a department of internal medicine

Hypomagnesemia is frequently encountered in hospitalized patients. The aim of this study was to determine the underlying causes of hypomagnesemia as well as the clinical and biochemical characteristics, and concomitant electrolyte and acid-base abnormalities in patients with decreased serum magnesium (Mg(2+)) levels in an internal medicine clinic. We prospectively studied adult patients who, either on admission to our clinic or during their hospitalization, were found to have hypomagnesemia (serum Mg(2+) concentration <1.3 mEq/L). One hundred and seven patients out of 2284 patients had hypomagnesemia. The incidence of hypomagnesemia was 4.7%. Malnutrition, drugs (mainly diuretics and aminoglycosides), respiratory alkalosis, diabetes mellitus, acute tubular necrosis, alcohol consumption and gastrointestinal losses were the main causes of the hypomagnesemia. In the majority of patients (80%), more than one condition may have contributed to the development of hypomagnesemia. Seventy-one patients (66.3%) exhibited at least one additional electrolyte disorder. Hypophosphatemia was the most frequent electrolyte abnormality (31.1%), followed by hypokalemia (26.1%), hyponatremia (21.5%), and hypocalcemia (22%). Seventy-eight patients (72.9%) exhibited pure or mixed acid-base disorders, mainly respiratory alkalosis (20.6%), metabolic acidosis (15.8%), and mixed metabolic alkalosis and respiratory alkalosis (18.7%). Hypomagnesemia in patients hospitalized in an internal medicine clinic was of multifactorial origin. A wide array of concurrent acid-base and electrolyte disorders was evident in this population.

PWE-037 Proton pump inhibitors and hypomagnesaemia

IntroductionHypomagnesaemia is a rare and potentially serious complication of PPI therapy. About 30 cases of severe hypomagnesaemia have been reported in long term PPI users.1MethodsWe describe two cases recently admitted...

Síndrome de Gitelman: confusión diagnóstica en una paciente con antecedentes de Trastorno de la conducta alimentaria

Introduction Gitelman Syndrome is a pathology in the distal tubule, generally of autosomal recessive inheritance, presenting as a metabolic alkalosis with hypomagnesemia and hypocalciuria. While the cause of hypomagnesemia is unknown, hypocalciuria is explained by the reduction of sodium chloride entrance in the distal tubule. Patients suffering from Gitelman Syndrome may present muscular weakness, fatigue, hypotension and chondrocalcinosis secondary to chronic hypomagnesemia. The treatment consists on potassium, oral magnesium and potasium-sparing diuretics. Diagnosis may be delayed for years, given that patients can remain asymptomatic for long periods of time. Biochemical alterations can lead to other diagnosis. Methods The case of a woman affected by the syndrome is described. Results The clinic diagnosis was confirmed by the study of mutations in the SLC12A3 gen. Conclusions In spite of the psychopatological history of patients, it is necessary to always rule out an organic illness that may mislead the diagnosis for having in common the same clinical, biochemical, and of the internal medium alterations.