Bartter, Gitelman and Liddle syndromes !

Inherited kidney tubule disorders that cause low potassium and metabolic alkalosis. Bartter and Gitelman mimic diuretics; Liddle mimics excess aldosterone.

Updated 2026-11-01

Structures involved

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Why it happens

What it is

A group of inherited tubular channelopathies that cause hypokalaemic metabolic alkalosis. Bartter syndrome affects the thick ascending limb of the loop of Henle (like a loop diuretic), Gitelman syndrome affects the distal convoluted tubule (like a thiazide), and Liddle syndrome is an overactive collecting-duct sodium channel that causes early hypertension with low renin and low aldosterone.

Who gets it

Rare. Gitelman syndrome is the most common (about 1 in 40,000) and usually appears in adolescence or adulthood. Antenatal and classic Bartter syndrome present in fetuses, infants or children. Liddle syndrome is autosomal dominant and presents as hypertension in children or young adults. In practice, diuretic or laxative misuse and vomiting are far more frequent causes of the same biochemistry.

Causes

Bartter syndrome: autosomal recessive mutations affecting the NKCC2 cotransporter, ROMK or chloride channels (e.g. CLCNKB, barttin) in the thick ascending limb
Gitelman syndrome: autosomal recessive mutations of the thiazide-sensitive NaCl cotransporter (SLC12A3) in the distal convoluted tubule
Liddle syndrome: autosomal dominant gain-of-function mutations of the epithelial sodium channel (ENaC; SCNN1B or SCNN1G) in the collecting duct

Risk factors

Family history or consanguinity (recessive Bartter and Gitelman)
An affected parent (dominant Liddle)
Polyhydramnios and preterm birth in antenatal Bartter

Pathophysiology

In Bartter and Gitelman, salt reabsorption fails, so volume falls and the renin-angiotensin-aldosterone system is activated; more sodium reaching the collecting duct is exchanged for potassium and hydrogen ions, producing hypokalaemia and metabolic alkalosis with normal or low blood pressure. Bartter, like a loop diuretic, increases urinary calcium; Gitelman, like a thiazide, lowers urinary calcium and wastes magnesium. In Liddle, ENaC stays open, sodium is retained, blood pressure rises and renin and aldosterone are suppressed.

Classification

Bartter syndrome: antenatal (types 1, 2, 4) and classic (type 3); thick ascending limb; high urinary calcium
Gitelman syndrome: distal convoluted tubule; low urinary calcium, low magnesium; milder, later onset
Liddle syndrome: collecting duct ENaC gain of function; hypertension, low renin and low aldosterone (pseudohyperaldosteronism)

Symptoms and signs

Muscle cramps, weakness, fatigue and tetany
Polyuria, thirst and salt craving (Bartter, Gitelman)
Growth delay and failure to thrive in children with Bartter
Normal or low blood pressure (Bartter, Gitelman)
Early, often severe hypertension (Liddle)
Chondrocalcinosis and joint pain in Gitelman from chronic hypomagnesaemia

Diagnosis

Clinical: Unexplained hypokalaemic metabolic alkalosis: blood pressure separates normotensive Bartter or Gitelman from hypertensive Liddle; exclude vomiting, diuretic and laxative misuse.
Tests: Serum potassium, bicarbonate and magnesium; urine chloride (high in Bartter, Gitelman and diuretic use, low in vomiting); urine calcium (high in Bartter, low in Gitelman); plasma renin and aldosterone (high in Bartter and Gitelman, both suppressed in Liddle); urine diuretic screen; genetic testing confirms the subtype. ECG for hypokalaemic changes.
Imaging: Kidney ultrasound may show nephrocalcinosis in Bartter; adrenal imaging only if primary hyperaldosteronism is suspected.

Differential diagnosis

Surreptitious vomiting (bulimia nervosa) and diuretic or laxative misuse
Primary hyperaldosteronism (high aldosterone, low renin)
Apparent mineralocorticoid excess or liquorice ingestion
Cushing syndrome
Distal renal tubular acidosis (hypokalaemia with acidosis, not alkalosis)

Goal of treatment

Keep potassium and magnesium in a safe range, control blood pressure in Liddle, and support growth in children.

Treatment

Medical: Potassium and magnesium supplements and liberal salt intake for Bartter and Gitelman.
Medical: Potassium-sparing drugs (aldosterone antagonists or ENaC blockers) to reduce potassium loss in Bartter and Gitelman; NSAIDs (cyclo-oxygenase inhibitors) are used in Bartter to lower high prostaglandin levels.
Medical: Liddle syndrome: ENaC blockers (amiloride or triamterene) correct both hypertension and hypokalaemia; aldosterone antagonists do not work because aldosterone is already suppressed.
Follow-up: Monitoring of electrolytes, kidney function, growth in children and ECG; avoiding drugs that prolong QT.
Lifestyle: Low-salt diet in Liddle syndrome; family screening in dominant disease.

Complications

Arrhythmias and sudden cardiac death from severe hypokalaemia or hypomagnesaemia
Nephrocalcinosis and chronic kidney disease (Bartter)
Growth failure in children
Stroke, heart disease and kidney damage from untreated hypertension (Liddle)
Chondrocalcinosis (Gitelman)

Prognosis

Gitelman syndrome has a generally good outlook with supplements, though fatigue and cramps affect quality of life. Antenatal Bartter is more severe and can progress to chronic kidney disease. Liddle syndrome does well when recognised and treated with ENaC blockers.

Test yourself

Think of the answer, then tap the question to see it.

Which diuretic does Gitelman syndrome mimic, and what is the urinary calcium?

A thiazide diuretic; urinary calcium is low (hypocalciuria) and magnesium is low.

Which nephron segment and diuretic does Bartter syndrome resemble?

The thick ascending limb of the loop of Henle, like a loop diuretic, with high urinary calcium.

How do renin and aldosterone differ between Liddle syndrome and primary hyperaldosteronism?

Liddle: both renin and aldosterone are low. Primary hyperaldosteronism: aldosterone high with low renin.

What is the treatment of choice for Liddle syndrome?

An ENaC blocker such as amiloride or triamterene; aldosterone antagonists are ineffective.

Which urine test helps separate Bartter or Gitelman from hidden vomiting?

Urine chloride: high in Bartter, Gitelman and diuretic use, low in vomiting.

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Educational information, not medical advice. For any symptom, see a health professional.

Sources: Bartter syndrome: MedlinePlus Medical Encyclopedia (MedlinePlus (U.S. National Library of Medicine), 2024); Gitelman syndrome: MedlinePlus Genetics (MedlinePlus (U.S. National Library of Medicine), 2024); Liddle syndrome: MedlinePlus Genetics (MedlinePlus (U.S. National Library of Medicine), 2024).

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Representative model, for educational purposes only.

Kidneys highlighted on the Durgical 3D model