本文選題：Gitelman綜合征 + 突變��； 參考：《青島大學(xué)》2017年碩士論文

【摘要】：目的:對(duì)收集的青島地區(qū)和棗莊地區(qū)的20例確診的Gitelman綜合征患者進(jìn)行相關(guān)的致病基因SLC12A3的突變基因型及表型進(jìn)行分析比較,旨在探討其中高發(fā)突變的基因型與表型的關(guān)系。方法:本研究組選取2013至2016年在青島大學(xué)附屬醫(yī)院和棗莊礦業(yè)集團(tuán)中心醫(yī)院住院治療的20例經(jīng)基因測(cè)序確診的Gitelman綜合征患者。其中男性患者13例,女性患者7例,平均年齡(33± 12)歲。收集20例患者的一般臨床資料和相關(guān)的實(shí)驗(yàn)室檢查結(jié)果:性別、發(fā)病年齡、癥狀、體征、血壓、血鉀、血鎂、血碳酸氫根、血漿腎素、血漿醛固酮、24h尿鈣/尿肌酐。查找20例經(jīng)基因確診患者的突變基因型。將不同突變基因型的患者的一般臨床資料和實(shí)驗(yàn)室檢查結(jié)果進(jìn)行相應(yīng)的分析比較。對(duì)50例非相關(guān)的健康患者進(jìn)行相關(guān)的基因測(cè)序,查找有無SLC12A3基因上的突變。采用SPPSS13.0軟件進(jìn)行統(tǒng)計(jì)學(xué)處理。結(jié)果:20例確診的患者中14例患者表現(xiàn)為四肢乏力,4例患者表現(xiàn)為手足搐搦,1例患者表現(xiàn)為多尿、夜尿增多,6例患者無相應(yīng)的臨床癥狀,僅僅在查體中發(fā)現(xiàn)了低血鉀,5例患者發(fā)病年齡"f 18歲。20例患者均有低鉀血癥,16例患者有低鎂血癥,20例患者血碳酸氫根均大于27mmol/L,20例患者均有低尿鈣(24 h尿Ca2+/Cr0.1摩爾比)。20例患者中都發(fā)現(xiàn)SLC12A3基因上的突變,其中共發(fā)現(xiàn)了 15個(gè)相關(guān)的突變位點(diǎn),其中錯(cuò)義突變 9 個(gè)(Cys430Gly、Leu571Pro、Thr60Met、Asp486Asn、Glu429Lys、Ala264Gly、Ser283Thr、Thr163Met、Arg913Gln),缺失突變 5 個(gè)(1384delG、346-353delACTGATGG、2883-2884delAG、1740delC、2877-2878delAG),1 個(gè)插入突變(997insCys),其中雜合突變2例,純合突變1例,復(fù)合雜合突變17例,有8例患者發(fā)現(xiàn)了 Ala264Gly的突變,發(fā)生率約為21.1%(8/38)。有2例患者僅存在1個(gè)位點(diǎn)突變(2/20=10%),遠(yuǎn)遠(yuǎn)低于既往文獻(xiàn)報(bào)道的40%。50例非相關(guān)的健康患者中未檢測(cè)出SLC12A3基因上的突變。ALa264GLy攜帶者的發(fā)病年齡、四肢乏力、手足搐搦、多尿(夜尿增多)等癥狀的發(fā)生與攜帶其他突變的患者無顯著的統(tǒng)計(jì)學(xué)差異,實(shí)驗(yàn)室檢查方面ALa264GLy攜帶者的血鉀、血鎂、血碳酸氫根、血漿血管緊張素、血漿醛固酮、24h尿鈣/尿肌酐與攜帶其他突變的患者亦無顯著的統(tǒng)計(jì)學(xué)差異。結(jié)論:不同地區(qū)Gitelman綜合征患者的表型及相關(guān)的突變基因可能有所不同。Gitelman綜合征表型的多樣性和異質(zhì)性是基因型和表型的聯(lián)系較難以確定的關(guān)鍵因素,而Gitelman綜合征患者表型的呈現(xiàn)是多個(gè)致病突變基因相互共同作用的結(jié)果;后天的飲食、性別以及環(huán)境的影響也是不能忽略的因素。目前尚無直接的證據(jù)支持本研究中的高發(fā)突變ALa264GLy與表型有明確的關(guān)系。
[Abstract]:Objective: to analyze and compare the genotypes and phenotypes of the related pathogenic gene SLC12A3 in 20 patients with Gitelman syndrome in Qingdao and Zaozhuang, in order to explore the relationship between the genotype and phenotype of the high incidence mutation. Methods: 20 patients with Gitelman syndrome diagnosed by gene sequencing were selected from 2013 to 2016 in Qingdao University affiliated Hospital and Zaozhuang Mining Group Central Hospital. There were 13 males and 7 females with an average age of 33 鹵12 years. The general clinical data and related laboratory findings of 20 patients were collected: sex, age of onset, symptoms, signs, blood pressure, blood potassium, blood magnesium, blood bicarbonate, plasma renin, plasma aldosterone 24 hours urine calcium / urinary creatinine. The mutation genotypes of 20 patients confirmed by gene were found. The general clinical data and laboratory results of patients with different genotypes were analyzed and compared. A total of 50 unrelated healthy patients were sequenced to identify mutations in the SLC12A3 gene. SPPSS13.0 software was used for statistical processing. Results of the 20 confirmed cases, 14 cases were characterized by fatigue, 4 cases showed tetany, 1 case showed polyuria, 6 cases with nocturia had no corresponding clinical symptoms. The age of hypokalemia was found only in 5 patients with hypokalemia. "f 18 years old. 20 cases all had hypokalemia. 16 cases had hypomagnesemia. 20 cases had blood bicarbonate > 27 mmol 路L ~ (-1). All 20 cases had hypocalcemia for 24 h and urine Ca2 / Cr _ (0.1) mole." A mutation in the SLC12A3 gene was found in 20 patients. 鍏朵腑鍏卞彂鐜頒簡(jiǎn) 15涓浉鍏崇殑紿佸彉浣嶇偣,鍏朵腑閿欎箟紿佸彉 9 涓，

本文編號(hào)：1820969