Figure 1216

Proposed pathogenic model for Gitelman's syndrome. The electrolyte disturbances evident in Gitelman's syndrome also are observed with administration of thiazide diuretics, which inhibit the sodium-chloride (Na-Cl) cotransporter in the distal convoluted tubule (DCT). In families with Gitelman's syndrome, genetic studies have identified defects in the gene encoding the thiazide-sensitive cotransporter (NCCT) protein. The proposed pathogenic model is predicated on loss of function of the NCCT protein and, thus, most closely applies to those patients who inherit Gitelman's syndrome as an autosomal recessive trait. Given that the physiologic features of this syndrome are virtually indistinguishable in familial and sporadic cases, it may be reasonable to propose the same pathogenesis for all patients with Gitelman's syndrome. However, it is important to caution that evidence for NCCT mutations in sporadic cases has not yet been established [25]. Ca2+—calcium ion; Cl-—chloride ion; H+—hydrogen ion; K+—potassium ion; Mg2+—magnesium ion; Na+—sodium ion.

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