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Bartter and Gitelman syndromes

Authors
Michael Emmett, MD
David H Ellison, MD, FASN, FAHA
Section Editor
Richard H Sterns, MD
Deputy Editor
John P Forman, MD, MSc

INTRODUCTION

Bartter syndrome and Gitelman syndrome (also called tubular hypomagnesemia-hypokalemia with hypocalciuria) are autosomal recessive disorders with characteristic sets of metabolic abnormalities [1-5]. These include hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia of the juxtaglomerular apparatus (the source of renin in the kidney), and hyperaldosteronism. Some patients also have hypomagnesemia and/or high levels of prostaglandin E2 (PGE2).

The hyperaldosteronism associated with Bartter and Gitelman syndromes is a secondary form of hyperaldosteronism that results from a volume contraction-induced increase in renin. These patients are not hypertensive. (See "Diagnosis of primary aldosteronism".)

PREVALENCE

Gitelman syndrome is a much more common disease than Bartter syndrome [6,7]. In a report from the Framingham Heart Study, the prevalence of Gitelman syndrome was 1 in 40,000 compared with 1 in 1,000,000 for Bartter syndrome [6]. The lower prevalence of Bartter syndrome in the population may be due at least in part to prenatal or neonatal death resulting from the disorder before it could be diagnosed [6]. The estimated prevalence of heterozygotes with one of the genetic mutations that cause these disorders is at least 1 percent in Western countries; in Asia, the prevalence of mutations may be as high as 3 percent [8]. (See 'Clinical manifestations in heterozygotes' below.)

PATHOGENESIS AND CLINICAL MANIFESTATIONS

The primary defect in both Bartter syndrome and Gitelman syndrome is an impairment in one of the transporters involved in sodium chloride reabsorption in the loop of Henle and distal tubule, respectively (table 1) [1,9,10].

Overview of common and distinctive features — The tubular defects in sodium chloride transport produce a clinical disorder that appears similar to that seen with chronic ingestion of a loop diuretic (mimicking Bartter syndrome) or a thiazide diuretic (mimicking Gitelman syndrome). The salt wasting that occurs results in the following features common to patients with both disorders:

                                

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Literature review current through: Nov 2016. | This topic last updated: Tue Sep 06 00:00:00 GMT 2016.
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