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Salt wasting and blood pressure

Nature Genetics volume 40, pages 495–496 (2008)Cite this article

Recessive loss-of-function mutations in genes involved in renal NaCl handling cause rare diseases characterized by salt wasting and reduced blood pressure of variable severity. A new study shows that the carrier state for rare inactivating mutations in three genes involved in NaCl transport in the kidney is associated with a significant blood pressure reduction and a reduced risk of hypertension in the general population.

Every day, an individual's kidneys filter 180 l of plasma and reabsorb more than 99% of the filtered sodium, corresponding to over 1 kg of salt. This massive reabsorption of NaCl results from transport mechanisms operating in the epithelial cells lining specialized tubular segments. Richard Lifton and colleagues have previously provided critical insights into the role these processes have in homeostasis, with studies demonstrating that rare mendelian diseases altering renal salt handling significantly affect blood pressure regulation1. These diseases include the recessively inherited Bartter's and Gitelman's syndromes, which lead to renal salt wasting potentially associated with life-threatening hypotension and electrolyte disturbances. On page 592 of this issue, Weizhen Ji, Richard Lifton and colleagues2 now take this one step further and provide persuasive data suggesting that the carrier state for rare functional mutations in three genes involved in Bartter's and Gitelman's syndromes influences blood pressure regulation in the general population.

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Figure 1: Reabsorption of NaCl in the thick ascending limb (TAL) of Henle's loop and the distal convoluted tubule (DCT) of the kidney.

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Authors and Affiliations

  1. Olivier Devuyst is at the Division of Nephrology, Université catholique de Louvain Medical School, B-1200 Brussels, Belgium. Olivier.Devuyst@uclouvain.be,

    Olivier Devuyst

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Devuyst, O. Salt wasting and blood pressure. Nat Genet 40, 495–496 (2008). https://doi.org/10.1038/ng0508-495

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