Endocrine Abstracts

Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D have been described in 50% of aldosterone producing adenomas (APA). To identify genetic alterations in new genes, we performed whole exome sequencing in 23 patients with APA negative for recurrent mutations in known driver genes. A low number of somatic variations were identified per patient, ranging from 1 to 22. N...

Gitelman syndrome (GS) is a recessive salt loosing tubulopathy caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive Na+-Cl− cotransporter, and characterized by secondary hyperaldosteronism, hypokalemic alkalosis, hypomagnesemia and hypocalciuria.The aim: Of the work was to investigate 27 adult patients with hypokalemia due to renal potassium wasting after exclusion of diuretics abuse, vomiting or diar...