Elsevier

Seminars in Nephrology

Volume 26, Issue 6, November 2006, Pages 422-433
Seminars in Nephrology

Inherited Renal Tubulopathies Associated With Metabolic Alkalosis: Effects on Blood Pressure

https://doi.org/10.1016/j.semnephrol.2006.10.002Get rights and content

Inherited tubular disorders associated with metabolic alkalosis are caused by several gene mutations encoding different tubular transporters responsible for NaCl renal handling. Body volume and renin-angiotensin-aldosterone system status are determined by NaCl reabsorption in the distal nephron. Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support the differential diagnosis. Bartter’s syndrome, characterized by hypokalemia and normal blood pressure, is a heterogenic disease caused by the loss of function of SLC12A1 (type 1), KCNJ1 (type 2), CLCNKB (type 3), or BSND genes (type 4). As a result, patients present with renal salt wasting and hypercalciuria. Gitelman’s syndrome is caused by the loss of funcion of the SLC12A3 gene and may resemble Bartter’s syndrome, though is associated with the very low urinary calcium. Liddle’s syndrome, also with similar phenotype but with hypertension, is produced by the gain of function of the SNCC1B or SNCC1G genes, and must be distinguished from other entities of inherited hypertension such as Apparently Mineralocorticoid Excess, of glucocorticoid remediable hypertension.

Section snippets

Inherited Tubulopathies With Metabolic Alkalosis

Patients with inherited tubulopathies leading to metabolic alkalosis are clinically characterized by hypokalemia and increased K+ in urine (>20 mEq/L).13 Other nonrenal disorders impairing the tubular NaCl transport and diseases with body volume imbalance could mimic tubulopathies and therefore need to be excluded before establishing a definitive diagnosis. Differential diagnosis should include causes of hypokalemia and volume contraction such as K+-deficient intake, or increased K+ wasting of

Inherited Tubulopathies With Hypokalemia and Normotension: Bartter’s and Bartter’s-Like Syndromes

Bartter’s syndrome and Bartter’s-like syndromes produce renal salt wasting caused by the loss of function of specific tubular transport mechanisms involved in distal NaCl reabsorption (Fig 1).16

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