The genetic mutation is in the gene coding for the thiazide-sensitive Na-Cl cotransporter in the distal tubule, resulting in a presentation similar to that of patients with chronic thiazide diuretic use. Prevalence is 1 in 40 000.
For more information, see OMIM.
See also Bartter Syndrome.
N15.8 – Other specified renal tubulo-interstitial diseases
707756004 – Gitelman Syndrome