並列摘要
Gitelman's syndrome (GS) is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. The electrolyte disturbances resemble those observed in chronic administration of thiazide diuretics. Patients with GS usually present during childhood or adolescence. Salt craving, nocturia, muscle weakness, tetanic episodes, paresthesias, and paralysis are the most common cardinal symptoms. Clinical presentations similar to GS may also be caused by surreptitious vomiting or laxative use, use of diuretics, acquired GS, and other inherited renal electrolyte disorders. Urine sodium (Na^+), chloride (Cl^-), and urine calcium to creatinine ratio (mmol/mmol) in the concentrated urine are very helpful in narrowing the differential diagnosis. Most cases of GS result from inactivating mutations to the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule (DCT) cells. A minority of GS patients have mutations in the basolateral chloride channels (CLCNKB). To date, more than 100 distinct NCC mutations, including 11 newly-established mutations from Chinese patients, have been found. Functional expression of these mutations in Xenopus laevis oocytes revealed that misrouting of the mutant NCC is responsible for defective NaCl reabsorption in GS. Because GS patients may not universally have hypocalciuria and hypomagnesemia, screening and identification of NCC mutations are warranted even in patients with a clinical diagnosis of GS or Bartter's syndrome (BS)-like syndrome. Early diagnosis, treatment, and education of the family may be helpful for their understanding of GS. Gene therapy will be the definitive treatment for GS, like other inherited electrolyte and water disorders.
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