Disease Directory Bartter Syndrome
Renal

Bartter Syndrome

Also known as: hypokalemic alkalosis with hypercalciuria, renal tubular hypokalemia, salt-wasting nephropathy

Prevalence

Approximately 1 in 1,000,000

Onset

Antenatal / Neonatal (Types I–III); childhood (Type IV–V)

Type

Rare autosomal recessive renal tubular disorder

Gene

SLC12A1, KCNJ1, CLCNKB (multiple)

About Bartter Syndrome

Bartter syndrome encompasses a group of autosomal recessive renal tubular disorders caused by mutations in genes encoding ion transporters in the thick ascending limb of the loop of Henle, resulting in salt wasting, hypokalaemic metabolic alkalosis, and secondary hyperaldosteronism. The neonatal forms (Types I and II) present with life-threatening polyuria, dehydration, and electrolyte disturbances in utero or at birth, while Type III (CLCNKB mutation) is more variable in severity. Long-term complications include nephrocalcinosis and progressive renal impairment.

Common Clinical Features

Polyhydramnios and premature birth (severe neonatal types) Severe neonatal polyuria and dehydration Hypokalaemia and metabolic alkalosis Failure to thrive and growth retardation Salt craving and polydipsia Nephrocalcinosis Muscle weakness and cramps

Clinical Trial Eligibility Tips

What to know before applying to Bartter Syndrome trials.

Genotype confirmation specifying Bartter subtype (I–V) is essential as disease severity, age of onset, and eligibility criteria differ substantially between subtypes.

Electrolyte profiles (potassium, chloride, bicarbonate, aldosterone, renin) at baseline and on current supplementation therapy must be documented; trials may require electrolytes to be within defined ranges at screening.

Some trials exclude patients on high-dose potassium supplementation or prostaglandin synthetase inhibitors; clarify medication requirements with the coordinating centre.

Patient Resources

Patient Organization

Rare Renal Disease Foundation

Visit website ↗

Natural History Registry

European Rare Kidney Disease Reference Network (ERKNet) Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:112)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Bartter Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Bartter Syndrome. Updated daily.

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