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題 名 | Gitelman's Syndrome: From Clinic to Gene=吉特曼症候群:從臨床至基因 |
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作 者 | 林石化; | 書刊名 | 臺灣腎臟醫學會雜誌 |
卷 期 | 17:3 2003.08[民92.08] |
頁 次 | 頁113-120+154 |
分類號 | 415.597 |
關鍵詞 | 氯離子通道; 吉特曼症候群; 低尿鈣; 低血鉀; 低血鎂; 代謝性鹼中毒; 基因突變; 鈉氯共同運輸器; Chloride channel; Gitelman's syndrome; Hypokalemia; Hypomagnesemia; Hypocalciuria; Metabolic alkalosis; Mutation; Sodium chloride cotransporter; |
語 文 | 英文(English) |
英文摘要 | Gitelman's syndrome (GS) is an inherited or acquired 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 the clinical symptoms during childhood or adolescence. Salt craving, nocturia, muscle weakness, tetanic episodes, paresthesias, and paralysis are the most common cardinal symptoms. Several extrarenal and renal disorders with similar laboratory findings and clinical presentations may be misdiagnosed as GS. Urine sodium (Na(superscript +)), chloride (Clˉ), and urine calcium to creatinine ratio (mmol/mmol) in the concentrated urine are very helpful in diagnosing GS. Although a minority of GS patients has mutations in the basolateral chloride channels (CLCNKB), the majority of GS results from inactivating mutations to the SLC12A3 gene, which encodes the thiazide-sensitive sodium chloride (NaCl) cotransporter (NCC) on the apical membrane of distal convoluted tubule cells. To date, more than 100 distinct NCC mutations have been reported. Functional expression of these NCC mutations in X. laevis oocytes or polarized epithelial cells revealed that misrouting of the mutant NCC is mainly responsible for defective NaCl reabsorption in GS. Gene therapy will be the future treatment for GS, like other inherited electrolyte and water disorders. |
本系統中英文摘要資訊取自各篇刊載內容。