Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.

Inherited salt-losing renal tubulopathies manifesting as normotensive hypokalemic metabolic alkalosis.

A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to...

Bartter’s syndrome with pulmonary tuberculosis: a shortly outlook

Bartter’s syndrome is a rare condition, described for the first time by Bartter and coauthors in 1962. It curently represents a group of interrelated inherited renal tubular disorders, characterized by hypokalemia, hypochloremia, metabolic alkalosis and hyperreninemia with normal blood pressure and no associated edema. We present the case of a 51-year-old woman with Bartter’s syndrome who prese...

Renal Potassium Handling and Associated Inherited Tubulopathies Leading to Hypokalemia

Regulation of intracellular and extracellular potassium concentration is a fundamental process vital for cellular metabolism. Potassium intake, from the diet, is carefully balanced with excretion of potassium via the renal tract and gastrointestinal losses. Following a potassium load, extra-renal buffering of potassium occurs in peripheral tissues prior to its excretion. Thus potassium regulati...

Neonatal Bartter syndrome.

Bartter syndrome is an inherited renal tubular disorder with hypokalemia, hypochloremic metabolic alkalosis, normal blood pressure with hyper-reninemia and increased urinary loss of sodium, potassium and chloride. We report an infant with neonatal Bartter syndrome, who improved with potassium supplements.