頁籤選單縮合
題 名 | Gitelman's Syndrome: Report of One Case=Gitelman症候群:一病例報告 |
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作 者 | 陳振輝; 穆淑琪; 劉明發; 張繼仁; 林石化; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 49:1 2008.01-02[民97.01-02] |
頁 次 | 頁31-34+47 |
分類號 | 415.597 |
關鍵詞 | Gitelman症候群; 低血鉀; 代謝性鹼中毒; 鈉氯離子協同轉運蛋白; SLC12A3基因; Gitelman's syndrome; Hypokalemia; Metabolic alkalosis; Na-Cl cotransporter; SLC12A3 gene; |
語 文 | 英文(English) |
中文摘要 | 吉特曼症候群是一種少見的遺傳性腎小管疾病,於1966年由吉特曼等人提出,其遺傳方式大多屬於自體隱性遺傳。臨床上症狀的差異性很大,多發生於青年及成年人;常見的症狀包括嗜鹽、夜尿、肌肉無力、疲倦、痙攣等;也有部份的病患是屬於意外發現的。診斷上可依賴實驗室檢查以及基因分析。在實驗數據方面會呈現典型的低血鉀、代謝性鹼中毒、低血鎂及低尿鈣。治療方面目前仍屬支持性療法,補充病患所需要的鉀離子及鎂離子,預後良好。本文報告一名八歲女童因急性闌尾炎住院,住院過程中因持續性低血鉀進而獲得診斷並以基因分析加以確診。 |
英文摘要 | Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule. We report an eight-year-old girl with incidental hypokalemia prior to appendectomy. All biochemical studies were consistent with GS. Genetic analysis of the NCC gene revealed two novel mutations (N442K and IVS6-1G>A). With regular potassium and magnesium supplementation, the patient has remained normal growth and development during two years of follow-up. |
本系統中英文摘要資訊取自各篇刊載內容。