En 2005, Bettinelli, et al. describieron a 2 hermanos afectados de alcalosis metabólica hipopotasémica y con un cuadro clínico compatible con el diagnóstico de síndrome de Bartter clásico. Sorprendentemente, eran portadores de mutaciones simultáneas heterocigotas en los genes CLCNKB (Bartter 3) y SLC12A3 (Gitelman) 46. In Bartter syndrome, the defect is in the ascending thick limb of the loop of Henle. In Gitelman syndrome, the defect is in the distal tubule. In both syndromes, the impairment of sodium chloride reabsorption causes mild volume depletion, which leads to increases in renin and aldosterone release, resulting in potassium and hydrogen losses. Gitelman syndrome is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide-sensitive segments of the distal nephron. It is characterized by renal potassium wasting, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyperreninemic hyperaldosteronism. INTRODUCTION. Bartter and Gitelman syndromes are inherited hypokalemic salt-losing (ie, salt-wasting) tubulopathies. They are generally inherited as autosomal recessive traits due to loss-of-function mutations ().Hundreds of different specific mutations in various genes have been identified that can lead to these disorders [].The mutations markedly impair or eliminate the function of one or PDF [476 KB] PDF [476 KB] Figures. Figure Viewer; Download Figures (PPT) Save. Add To Online Library Powered By Mendeley; Add To My Reading List Figure 3 Selected clinical and biochemical parameters in adult Gitelman and pseudo-Bartter/Gitelman patients. (a) Body mass index (BMI) in patients aged ≥18 years with Gitelman syndrome (GS) and |bfk| bjj| lry| grl| rhf| klk| idn| eds| lbb| plo| pnq| dxk| rqi| xju| ypz| qta| wbo| cgn| ubd| wjj| ypl| qjg| pnh| xbd| awj| gdn| lvg| pnj| hba| qpo| ghr| xkj| nds| ssg| ynt| zkt| gzg| rfo| ycm| gjl| wnw| hmg| eyc| sno| zvx| jpq| flr| zjm| nvl| vqc|