- 期刊
Gitelman's Syndrome: Report of One Case
Gitelman症候群：一病例報告
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。
並列摘要
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.