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Salt wasting and blood pressure

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.

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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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Devuyst, O. Salt wasting and blood pressure. Nat Genet 40, 495–496 (2008).

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