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Book

Bartter Syndrome

Syed Rizwan A. Bokhari  1 , Hassam Zulfiqar  2 , Abeera Mansur  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Bartter Syndrome

Syed Rizwan A. Bokhari et al.
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Excerpt

Bartter syndrome is an autosomal recessive disorder of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure. It is characterized by several electrolyte abnormalities including low potassium and chloride and, in few cases, hypomagnesemia. Other abnormalities include high renin, secondary hyperaldosteronism, and elevated levels of prostaglandin E2. Acid-base manifestation is typically metabolic alkalosis.

Patients often present in infancy with failure to thrive. Various phenotypes are classified according to the site of impaired salt transport.

Important clinical variants are neonatal (antenatal) Bartter syndrome, classical Bartter syndrome, and Gitelman syndrome.

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Conflict of interest statement

Disclosure: Syed Rizwan Bokhari declares no relevant financial relationships with ineligible companies.

Disclosure: Hassam Zulfiqar declares no relevant financial relationships with ineligible companies.

Disclosure: Abeera Mansur declares no relevant financial relationships with ineligible companies.

References

    1. Heilberg IP, Tótoli C, Calado JT. Adult presentation of Bartter syndrome type IV with erythrocytosis. Einstein (Sao Paulo) 2015 Oct-Dec;13(4):604-6. - PMC - PubMed
    1. Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. J Am Soc Nephrol. 2009 Jan;20(1):145-53. - PMC - PubMed
    1. Kitanaka S, Sato U, Maruyama K, Igarashi T. A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. Pediatr Nephrol. 2006 Feb;21(2):190-3. - PubMed
    1. Krämer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. - PubMed
    1. McLarnon S, Holden D, Ward D, Jones M, Elliott A, Riccardi D. Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor. Biochem Biophys Res Commun. 2002 Sep 13;297(1):71-7. - PubMed

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