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Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene.…
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gitelman syndrome slc12a3 potassium magnesium gene tubule levels distal convoluted ncc low sodium chloride symptoms variants patients blood electrolyte genetic
| Subject | Predicate | Object | Confidence | Src |
|---|---|---|---|---|
| Gitelman syndrome | Causes | Mutations in SLC12A3, CLCNKB, MT-TI, MT-TF | 1.00 | infobox |
| Gitelman syndrome | Other names | Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria | 1.00 | infobox |
| Gitelman syndrome | Specialty | Nephrology | 1.00 | infobox |
| seizures | instance of | More severe symptoms | 0.80 | text |
| tetany | instance of | More severe symptoms | 0.80 | text |
| and paralysis have been reported | instance of | More severe symptoms | 0.80 | text |
| gentamicin can cause a transient metabolic alkalosis with hypokalaemia | instance of | and aminoglycosides | 0.80 | text |
| hypomagnesaemia that resolves 2 | instance of | and aminoglycosides | 0.80 | text |
| amiloride have also been suggested as possible treatments | instance of | or epithelial sodium channel blockers | 0.80 | text |
| because they decrease urinary wasting of potassium | instance of | or epithelial sodium channel blockers | 0.80 | text |
| infants | instance of | Most asymptomatic individuals with Gitelman syndrome can be monitored without medical treatment.In patients with early onset of the disease | 0.80 | text |
| children | instance of | Most asymptomatic individuals with Gitelman syndrome can be monitored without medical treatment.In patients with early onset of the disease | 0.80 | text |
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