頁籤選單縮合
題名 | 陣發性低血鉀癱瘓症與離子通道基因的關係與回顧=Calcium Channel Disorder in Hypokalemic Periodic Paralysis Patients |
---|---|
作者 | 許燿東; Hsu, Yaw-don; |
期刊 | Acta Neurologica Taiwanica |
出版日期 | 20010900 |
卷期 | 10:3 2001.09[民90.09] |
頁次 | 頁215-218+214 |
分類號 | 415.826 |
語文 | chi |
關鍵詞 | 陣發性低血鉀癱瘓症; 離子通道基因; 肌肉疾病; 癱瘓症; Hypokalemic periodic paralysis; Dihydropyridine receptor of calcium channel; |
中文摘要 | ”陣發性低血鉀癱瘓症”是一種神經科常見的急診疾病。常見的臨床症狀為自發性的肌無力發作於夜晚或清晨起床時刻。大部份病患前的誘因包括攝取過度碳水化合或含鈉過多的飲食過度運動後休息狀態等。少部份病患則因暴露於寒冷天氣,或飲酒,或情緒壓力下發作。發作時在數小數內呈漸進性癱瘓或肌無力現象,甚至因呼吸困難而威脅生命,急診的血液分析中,可發現血鉀不正常的變化,其中以低血鉀狀態較多見,而少數患者呈高血鉀狀態。 近十年的探討,發現高血鉀癱瘓症與細胞膜納離子通道基因的突變有關,然而至1994年才陸續地發現陣發性低血鉀癱瘓症與細胞內endoreticular system或T-tubular system的dihydropyridine receptor的鈣離子通道基因的突變有相關聯。因此不同血鉀濃度引發的陣發性癱瘓症,因不同離子基因突變以致病理機轉也不盡相同。這種情況尤其發生於家族遺傳型的特吸明顯,在偶發性病患也有發現。值得我們進一步探討的是,方族群中,此病常合併甲狀腺功能亢進,而這類患者與西方傳統的低血鉀癱瘓症的基因突變不同。目前的研究數據似乎與鈣離子基因無關。 臨床方面若因腎臟病,或葯物,或因施行檢查引起的續發性低血鉀癱瘓症患者,發現其病因與離子基因也無關。目前已知國外型的基因突變熱點有序列528及1297處的限制酵素有突變現象,而臺灣目前的研究數據發現,無論家族性或偶發性病例,主要以序列528突變為主,且臨床上肌肉切片,或肌電圖檢查少見嚴重肌病變情形。 |
英文摘要 | Hypokalemic periodic paralysis (hypoKPP) is an autosomal dominant or sporadic disorder chacterized by periodic, reversible attacks of muscle weakness. Attacks usually start in adolescent with 60% occurring before age of 16 years. Attacks may occur spontaneously, often at night, so that patients awake with a variable degree of weakness even life threatening. Attacks are most commonly precipitated by carbohydrate intake and rest after exercise, but may also be provoked by cold exposure, alcohol, or emotional stress. Normally, attacks last between 1 and 4 hours, but they can occasionally persist for 3 days. During attacks there is a flaccid areflexic weakness without sensory involvement: ocular or bulbar involvement and respiratory failure rarely occur. Serum potassium concentration is commonly observed to be decreased during attack. Hypokalemic periodic paralysis was found to be linked to a skeletal muscle dihydropyridine receptor (CACNLA3) with at least three mutations of this calcium channel gene located on chromosome 1q in 1994. Hyperkalemic periodic paralysis is a less different clinical feature of disorder, however, is a quite different disorder from gene mutations that is linked to a skeletal muscle sodium channel. Thyrotoxic hypoKPP results from an alteration of muscle membrane permeability and is more common in Asians but also occurs in whites. The clinical presentations is often indistinguishable from primary hypoKPP but with additional and sometimes subtle evidence of hyperthyroidism. At present no research reports to support this type of kypoKPP is linked to which ion channel or different gene location. We have systematically screened the hot spot mutations (Arg528His and Arg1239His) of the CACNL1A3 in total 28 subjects (include 6 patients) in a panel of two familial hypoKPP and 3 single unrelated sporadic cases. Arg528His mutation by restriction site analysis of in entire sample was demonstrated in 11 cases (7 symptomatic patients and 4 asympotmatic cases). Incomplete penetrance is present in three men and one woman. These four non-penetrance mutation carriers also demonstrate one normal allele and on mutant allele of Arg528His. However, there was no Arg1239His mutation in our sample. Two sporadic cases of hypoKPP in this study and no mutation either in Arg528His or Arg1239His. In conclusion our study showed tow familial and one sporadic hypoPP of Taiwanese are segregated in CACNAL1A3 mutation. Point mutation of Arg528His is found only in our study. However, two sporadic hypoKPP patients are not segregated in CACNL1A3 mutation at present time. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。