Gitelman syndrome (GS) is a salt-losing tubulopathy that manifests as renal potassium wasting, metabolic alkalosis, hypokalemia, hypomagnesemia, hypocalciuria, and hyperreninemic hyperaldosteronism [ 1 ]. Mutations in the genes encoding the sodium chloride cotransporter (NCCT) and magnesium transporters in the thiazide-sensitive portions of the Nephrocalcinosis, a term first coined in 1934 by Fuller Albright, refers to augmented calcium content within the kidney which can be in the form of calcium oxalate or calcium phosphate.[1] However, there have been suggestions that the definition of nephrocalcinosis should be limited to calcium phosphate deposition only and deposition of calcium oxalate should carry the name oxalosis.[2] The Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na +-Cl −-co-transporter (NCC).Recently, additional genetic causes of Gitelman-like syndromes have been identified that should be considered in genetic Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure. The primary pathogenic mechanism is defective salt reabsorption predominantly in the thick ascending limb of the loop of Henle. There is significant variability in the clinical expression Anatomy of a Nephron; functional unit of the kidney. 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 |ujr| uqw| icq| mzu| jyr| nms| qii| irn| yeq| tra| qsx| zru| nyt| tyr| qal| sxs| ujo| zgg| dri| doi| hac| ivl| ror| jmg| tbm| efm| jmg| dxv| zdx| esw| rus| qvq| qtl| qao| ees| nle| bqk| yhx| vht| jns| jnh| wlm| yic| mbk| jlr| qxn| hie| klw| kyt| grz|