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Bartter and Gitelman Syndromes in Adults

Inherited salt-losing tubulopathies with hypokalemic metabolic alkalosis presenting in adulthood.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

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What is Bartter and Gitelman Syndromes in Adults?

Bartter and Gitelman syndromes are inherited tubulopathies characterized by hypokalemia, metabolic alkalosis, hyperreninemia and hyperaldosteronism with normal or low blood pressure. Bartter mimics loop diuretic effect (defective Na-K-2Cl transport in the thick ascending limb), while Gitelman mimics thiazide effect (defective NaCl cotransport in the distal convoluted tubule).

Adult presentations are usually Gitelman syndrome or milder Bartter variants (types III-IV). Patients have lifelong fatigue, salt craving, polyuria, muscle cramps, tetany, chondrocalcinosis and a tendency toward QT prolongation. Hypomagnesemia and hypocalciuria are typical of Gitelman; hypercalciuria with nephrocalcinosis suggests Bartter.

Differential diagnosis must exclude diuretic or laxative abuse, surreptitious vomiting, and licorice ingestion. Genetic testing of SLC12A3 (Gitelman) and CLCNKB, KCNJ1, BSND, NKCC2 (Bartter) confirms the diagnosis.

Symptoms

Chronic fatigue and exercise intolerance
Salt craving and excessive thirst
Polyuria and nocturia
Muscle cramps, weakness, tetany
Carpopedal spasm and paresthesia
Chondrocalcinosis and joint pain (Gitelman)
Palpitations and QT prolongation
Growth retardation in childhood-onset cases

Risk Factors

Autosomal recessive inheritance
Consanguineous parents
SLC12A3 mutation (Gitelman)
CLCNKB, KCNJ1, BSND, NKCC2, MAGED2 mutations (Bartter)
Family history of unexplained hypokalemia
Sibling with similar electrolyte disturbance
Antenatal polyhydramnios (severe Bartter types I-II, IV)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Chronic unexplained hypokalemia
  • Recurrent muscle cramps with low normal blood pressure
  • Persistent metabolic alkalosis without obvious cause
  • Severe hypomagnesemia
  • Suspected pseudo-Bartter (vomiting/laxative use)
  • QT prolongation or arrhythmia screening

Treatment Methods

01
Lifelong oral potassium supplementation
02
Magnesium replacement (especially in Gitelman)
03
Potassium-sparing diuretics (spironolactone, eplerenone, amiloride)
04
NSAIDs (indomethacin, ibuprofen) in classic Bartter
05
Liberal salt and fluid intake
06
ACE inhibitors with caution to reduce aldosterone drive
07
Treatment of arrhythmia and QT prolongation
08
Genetic counseling for family members

Which Department to Visit?

You can visit our Endokrinoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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