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Inherited renal tubular defect resulting in urinary loss of magnesium, sodium, potassium, and chloride with otherwise normal kidneys.

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Primary Renotubular Hypomagnesemia-Hypokalemia with Hypocalciuria.

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Autosomal recessive; caused by mutation in the thiazide-sensitive sodium-chloride cotransporter gene (SLC12A3 gene). More than 100 different mutations distributed throughout the whole protein have been reported. Gene locus is 16q13.

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Alteration of the thiazide-sensitive sodium chloride transporter impairs sodium and chloride reabsorption and stimulates renin and aldosterone secretion, resulting in hypokalemia and metabolic alkalosis. Reasons for renal magnesium wastingare unknown.

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Made by biochemical changes (alkalosis, hypokalemia, hypomagnesemia, hypocalciuria). Although some features overlap with Bartter syndrome, in contrast to Bartter syndrome, Gitelman syndrome patients present later in life with hypomagnesemia, high fractional excretion of magnesium, and low calcium excretion, but no overt hypovolemia.

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Late childhood presentation with hypokalemic metabolic alkalosis and hypomagnesemia. Either asymptomatic or occasional mild episodes of muscle weakness. Symptoms are precipitated by nonspecific illness and may consist of tetany. Patients are neither polyuric nor polydipsic, but they have hypocalciuria, renal magnesium wasting, and absence of nephrocalcinosis. Chronic dermatitis, skeletal problems with growth retardation (as a consequence of rickets), and chondrocalcinosis; rarely rhabdomyolysis (secondary to severe hypokalemia) can be observed in some patients. Long-term prognosis is rather good, especially when potassium losses are corrected. Treatmentwith oral magnesium corrects the magnesium deficit but not themetabolic alkalosis. The relationship of these skeletal abnormalities to magnesium wasting and hypomagnesemia is not clear.

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Obtain history of frequency and severity of tetany and muscle weakness as an indicator of disease severity. Obtain electrolyte levels (potassium, magnesium, calcium) and arterial blood gas analysis. Correct electrolyte abnormalities preoperatively.

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The catecholamine stress response associated with direct laryngoscopy and tracheal intubation further exacerbates hypokalemia (intracellular entry). The arrhythmogenic potential of hypokalemia is thought to result from electrical inhomogeneity, alterations in conduction, changes in automaticity, and disturbances in sodium pump kinetics. Hypomagnesemia favors atrial dysrhythmias. Use of a nerve stimulator is mandatory if general anesthesia with muscle relaxants is considered. Postanesthetic care should be in a high-dependency area for 24 to 48 hours or until the patient is stable with normal potassium and magnesium levels. Should cardiac dysrhythmias occur, determination of serum potassium, calcium, and magnesium concentrations are essential in guiding the therapy.

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Muscle relaxants (preferably atracurium or cis-atracurium) can be used (under the monitoring of peripheral nerve stimulator). Use of catecholamines and other vasoactive drugs may exacerbate preexisting hypokalemia because of the intracellular shift of potassium. Careful administration of glucose-based intravenous solution may contribute to exaggeration of the hypokalemia.

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Bartter Syndrome: Family of disorders characterized by hypokalemic, hypochloremic, hypomagnesemic variants with hypocalciuria, metabolic alkalosis, and normotensive hyperreninemic hyperaldosteronism linked to the gene encoding the thiazide-sensitive Na/Cl-cotransporter (TSC). The responsible gene here is located on chromosome 1p 36.

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Gullner Syndrome: Findings differ from those ...

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