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Bartter Syndrome

An inherited tubulopathy with impaired sodium-chloride reabsorption in the loop of Henle, causing hypokalemic metabolic alkalosis and hypercalciuria.

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)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Bartter Syndrome?

Bartter syndrome is a group of autosomal recessive disorders caused by defects in the NKCC2, ROMK, CLCNKB, Barttin, or CaSR proteins located in the thick ascending limb of the loop of Henle. Five types are described; antenatal Bartter (Types I and II) is the most severe form.

Clinically, antenatal polyhydramnios, premature birth, polyuria, dehydration, hypokalemia, hypercalciuria, hypochloremic metabolic alkalosis, and renal magnesium wasting are seen. Failure to thrive is common. Serum renin and aldosterone are elevated, with normal blood pressure.

Treatment includes high-dose potassium and salt supplementation, NSAIDs (indomethacin), and sometimes ACE inhibitors or spironolactone. Careful electrolyte monitoring and nephrology follow-up are essential.

Symptoms

Antenatal polyhydramnios
Premature birth
Severe polyuria and polydipsia
Failure to thrive
Muscle weakness
Constipation
Tetany and arrhythmias (severe hypokalemia)

Risk Factors

Consanguineous marriage
Family history of similar disease
Autosomal recessive inheritance
History of antenatal polyhydramnios
Congenital sensorineural hearing loss (Type IV)
Premature birth

When to See a Doctor?

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

  • For follow-up of antenatal polyhydramnios
  • Severe polyuria and dehydration in a newborn
  • A child presenting with failure to thrive
  • Unexplained hypokalemia and metabolic alkalosis
  • When elevated renin and aldosterone are detected

Treatment Methods

01
High-dose potassium and salt replacement
02
Indomethacin (NSAID)
03
Spironolactone or amiloride
04
Magnesium replacement
05
Nephrology follow-up and electrolyte monitoring
06
Growth and development assessment

Which Department to Visit?

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

Learn About Çocuk Sağlığı ve Hastalıkları Department

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.