Which genetic mutations cause Bartter syndrome?

Updated: Dec 06, 2018
  • Author: Eleanor Lederer, MD, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Antenatal Bartter syndrome types 1, 2, 3, and 4A are inherited in an autosomal recessive manner. They result from the following mutations:

  • Type 1 is caused by mutation in the Na-K-2Cl cotransporter NKCC2 gene

  • Type 2 is caused by a mutation in the adenosine triphosphate (ATP)–sensitive potassium channel ROMK gene

  • Type 3 is caused by mutations in the kidney chloride channel B CLCNKB gene [28]

  • Type 4A is caused by mutation in the BSND gene; it can also be associated with hearing loss


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