本文選題：先天性心臟病 + 高發(fā)家系��； 參考：《廣西醫(yī)科大學(xué)》2012年碩士論文

【摘要】：背景：先天性心臟病(Congenital heart disease, CHD)為一種血液循環(huán)結(jié)構(gòu)和功能的畸形,即可在剛出生時(shí)被檢查出,也可以在以后生活中被發(fā)現(xiàn),是世界上新生兒先天性缺損和導(dǎo)致新生兒顯著死亡率的最常見(jiàn)類型。大多數(shù)CHD畸形的原因仍然未知,但基因遺傳因素被認(rèn)為扮演重要的角色。大多數(shù)CHD患者都零散出現(xiàn)在家族中,病因至今不明。診斷和治療治療主要基于解剖和生理因素,隨著兒童心臟保健的不斷發(fā)展,大多數(shù)嬰幼兒可以通過(guò)兒科手術(shù)修復(fù)并且恢復(fù)良好,降低了CHD患者的死亡率。但對(duì)于CHD潛在病因知識(shí)的缺乏大大降低了對(duì)CHD預(yù)防和改變疾病發(fā)生的能力,從而阻礙了預(yù)防和早期治療策略的發(fā)展。流行病學(xué)研究已經(jīng)表明CHD復(fù)發(fā)高風(fēng)險(xiǎn)多為先證者的兄弟姐妹和后代,CHD家族聚集復(fù)發(fā)率為2-4%,隨著現(xiàn)代遺傳分析技術(shù)的發(fā)展,CHD不在受限于基因序列或基因鑒定能力,但達(dá)到成功的研究需要有三個(gè)預(yù)備知識(shí)或先決條件：1.豐富的顯形案例2.一個(gè)遺傳學(xué)固定框架3.健全的研究設(shè)計(jì)。所以積極達(dá)到需要條件后,通過(guò)遺傳分析技術(shù)找到CHD的發(fā)病原因作為CHD實(shí)驗(yàn)研究與臨床治療方向。但目前國(guó)內(nèi)關(guān)于CHD的高發(fā)家系的顯形案例和血液標(biāo)本少,不能達(dá)到檢測(cè)CHD相關(guān)基因篩查的目標(biāo),所以現(xiàn)在的任務(wù)是收集大量CHD高發(fā)家系的顯形案例和建立血液標(biāo)本庫(kù),為下一步CHD的基因篩查打下基礎(chǔ)。 目的：對(duì)廣西地區(qū)CHD患者進(jìn)行篩查,分析近2年廣西地區(qū)CHD家族聚集情況,整個(gè)家系中出現(xiàn)不少于2例(2例及2例以上) CHD患者的家系稱為高發(fā)家系,并收集高發(fā)家系先證者及其一、二級(jí)親屬血液標(biāo)本,建立血液標(biāo)本庫(kù)；對(duì)高發(fā)家系進(jìn)行遺傳學(xué)分析,進(jìn)一步研究CHD的臨床特點(diǎn)和遺傳方式,為CHD基因研究提供基礎(chǔ)。 方法：對(duì)廣西醫(yī)科大學(xué)第一附屬醫(yī)院小兒科、心胸外科住院治療CHD患者進(jìn)行逐個(gè)調(diào)查,成員包括先證者、及其一級(jí)親屬、二級(jí)親屬,收集CHD患者及其家系的資料,填寫CHD核心高發(fā)家系登記表,繪制家系圖譜,并采集先證者及其父母血液標(biāo)本；對(duì)于高發(fā)家系,對(duì)先證者一、二級(jí)親屬中患CHD者填寫CHD核心高發(fā)家系登記表,可疑者由內(nèi)科專家檢查并做心臟彩色B超等輔助檢查,確診后采集其親屬家系成員血液標(biāo)本,進(jìn)而對(duì)高發(fā)家系進(jìn)行遺傳性分析。 結(jié)果：2009年10月至2011年11月共收集140例CHD先證者,其中高發(fā)家系49例。把高發(fā)家系中先證者患病種類按傳統(tǒng)分類法分成13種,為室間隔缺損(Ventricular septal defect, VSD)、房間隔缺損(Atrial septal defect, ASD)、法洛四聯(lián)癥(Tetralogy of Fallot, TOF)、房室間隔缺損(Atrio-Ventricular septal defect,AVSD)等。49例高發(fā)家系中,一級(jí)親屬和二級(jí)親屬CHD總患病率為6.29%(71/779),其中一級(jí)親屬的患病率為20.60%(41/199),二級(jí)親屬為5.00%(30/580),一、二級(jí)親屬患病率比較,差異有統(tǒng)計(jì)學(xué)意義(X2=42.59,P0.001)。在49例高發(fā)家系中,父親既抽煙又喝酒占19例,母親孕前妊娠期用藥者占19例。在高發(fā)家系中有5例代表性典型病例,為發(fā)病例數(shù)最多的家系,ASD、VSD、AVSD同時(shí)存在的家系,一、二級(jí)親屬中都有CHD患者家系,與性別相關(guān)的CHD家系,只有AVSD存在的家系；140例先證者中有2例合并心外畸形(CHD合并六指畸形和CHD合并耳畸形),但不屬于高發(fā)家系。 結(jié)論：廣西地區(qū)CHD家系調(diào)查中有家族聚集現(xiàn)象；先證者親屬的發(fā)病率高低與先證者血緣關(guān)系近遠(yuǎn)有相關(guān)性,其發(fā)病率高低依次為先證者的一級(jí)親屬、二級(jí)親屬；遺傳學(xué)分析顯示,CHD符合多基因遺傳方式；49例高發(fā)家系先證者CHD類型構(gòu)成比最高的為VSD；外界環(huán)境因素也是先證者CHD發(fā)生的重要因素,如母親孕前和妊娠期細(xì)菌病毒感染史,父母孕前和妊娠期用藥史,父母吸煙史和喝酒史等。CHD合并發(fā)生心外畸形的可能性大(六指畸形,耳畸形)。
[Abstract]:Background : Congenital heart disease ( CHD ) is a kind of deformity of blood circulation structure and function . It can be checked out at birth . It is the most common type of congenital defects in the world .

Objective : To screen the CHD patients in Guangxi region , and analyze the aggregation of CHD family in Guangxi region in recent 2 years . There are not less than 2 cases in the whole family ( 2 cases and more than 2 cases ) .

The family of CHD patients is called high - hair family , and the blood samples of first and second - degree relatives of high - hair families are collected , and blood sample banks are established .
In order to provide the basis for the study of CHD gene , genetic analysis of high - hair family was carried out .

Methods : A case - by - case study of CHD patients was carried out in the first Affiliated Hospital of Guangxi Medical University . The members included the proband , their first relatives , the second relatives , the data collected from CHD patients and their families , completed the registration form of CHD core , mapped the family map , and collected the first proband and their parents ' blood specimens .
For the high incidence family , the CHD patients in the first and second relatives of the proband are filled with the CHD core high - risk family registration form . The suspicious persons are examined by the medical experts and subjected to auxiliary examination such as heart color Doppler ultrasound . After the diagnosis , the blood samples of the relatives of their relatives are collected , and then genetic analysis is carried out on the high - hair families .

Results : From October 2009 to November 2011 , 140 CHD probands were collected , including 49 cases with high incidence . Among them , the prevalence rate of first - degree relatives and second - degree relatives was 6.29 % ( 71 / 779 ) . Among them , the prevalence of first - degree relatives and second - degree relatives was 6.29 % ( 71 / 779 ) , and the prevalence of first - degree relatives was 20.60 % ( 41 / 199 ) . Among the 49 high - hair families , there were 19 cases of father ' s smoking and alcohol drinking , 19 cases of pregnant women before pregnancy . There were 5 representative cases in the family of high incidence . Among them , there were five representative cases in the family of high incidence , the family of ASD , VSD , AVSD , the family of CHD patients , the family of CHD patients with sex , and only AVSD ' s family .
Among the 140 probands , there were 2 cases of congenital anomaly ( CHD with six finger deformity and CHD combined ear deformity ) , but it was not belong to the high incidence family .

Conclusion : There are family aggregation in CHD family in Guangxi .
The incidence of the relatives of the probands is closely related to the blood relationship of the proband , the incidence of which is the first - degree relatives and the second - degree relatives of the probands in turn .
Genetic analysis showed that CHD was consistent with multi - gene inheritance .
Among the 49 patients with high incidence of CHD , CHD type was higher than that of VSD ;
The external environmental factors are important factors of CHD , such as the history of pre - maternal and pregnancy bacterial infection , the history of pre - pregnancy and pregnancy , smoking history of parents and the history of drinking alcohol .

【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R725.4

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