nykek5i 发表于 2024-10-10 07:06:02

血脂反常亦会遗传？


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    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">2020年，美国国家脂质协会（<span style="color: black;">National Lipid Association</span>，NLA）发布了一项科学声明，关于基因检测在血脂<span style="color: black;">反常</span>方面应用。</p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/7c13d8d9eea44e749c25a8e14fc71f28~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=HQSAY8r3YWsLT%2Fzz25KTrG%2B19MU%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;">什么是血脂<span style="color: black;">反常</span>？</span></span></strong></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p26-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/90eea1b5f71740c298c9a639b0198686~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=dDt9ujyU0jkwRNz1eGu5P6wreCs%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">血脂<span style="color: black;">反常</span></span><span style="color: black;">指的是</span>血液中的胆固醇或脂肪（脂质）含量<span style="color: black;">反常</span><span style="color: black;">上升</span>。血脂<span style="color: black;">反常</span>会<span style="color: black;">增多</span>动脉堵塞（动脉粥样硬化）、心梗、中风或其他循环系统<span style="color: black;">疾患</span>的<span style="color: black;">出现</span>概率，尤其是在吸烟者中。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;"><span style="color: black;">身体</span>脂质代谢<span style="color: black;">错乱</span></span></span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;">由<span style="color: black;">那些</span><span style="color: black;">原因</span><span style="color: black;">导致</span>？</span></span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">身体</span>脂质代谢<span style="color: black;">错乱</span>由<span style="color: black;">环境</span>和<span style="color: black;">遗传</span><span style="color: black;">原因</span><span style="color: black;">导致</span>。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">其中一类血脂<span style="color: black;">反常</span><span style="color: black;">是由于</span><span style="color: black;">某单个基因缺陷</span><span style="color: black;">导致</span>。这类<span style="color: black;">病人</span>就<span style="color: black;">能够</span><span style="color: black;">经过</span>基因检测<span style="color: black;">发掘</span>缺陷的基因，并有利于家族内其他成员的血脂<span style="color: black;">反常</span>的管理和筛查。在这个方面，基因检测在临床上有很好适用性。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">另一类血脂<span style="color: black;">反常</span><span style="color: black;">是由于</span><span style="color: black;">多个基因缺陷</span><span style="color: black;">导致</span>，采用多基因评分系统去<span style="color: black;">评定</span>血脂<span style="color: black;">反常</span>的<span style="color: black;">危害</span>。在这个方面，基因检测在临床上应用很少，正<span style="color: black;">处在</span><span style="color: black;">科研</span><span style="color: black;">周期</span>。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;">遗传性的脂质<span style="color: black;">错乱</span><span style="color: black;">疾患</span>有</span></span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;"><span style="color: black;">那些</span>重要的临床特征？</span></span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">遗传性的脂质<span style="color: black;">错乱</span><span style="color: black;">疾患</span>最<span style="color: black;">重点</span>的几个指标<strong style="color: blue;"><span style="color: black;">低密度脂蛋白胆固醇</span></strong><span style="color: black;">（LDL-C）、</span><strong style="color: blue;"><span style="color: black;">甘油三酯</span></strong><span style="color: black;">(TG)、</span><strong style="color: blue;"><span style="color: black;">总胆固醇</span></strong><span style="color: black;">(TC)、</span><strong style="color: blue;"><span style="color: black;">高密度脂蛋白胆固醇</span></strong><span style="color: black;">(HDL-C)<span style="color: black;">反常</span></span>。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">日前</span><span style="color: black;">科研</span><span style="color: black;">知道</span>的，由单个基因缺陷<span style="color: black;">导致</span>的血脂<span style="color: black;">反常</span>的<span style="color: black;">疾患</span>有20 余种，简要介绍以下六种遗传性的脂质<span style="color: black;">错乱</span><span style="color: black;">疾患</span>。</p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p26-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/54939e075ce446d6896b965372c7511e~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=sOPR%2BkQiSVD%2Bwb3fQIqEzktRX%2BQ%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">家族性高胆固醇血症(FH,familial hypercholesterolemia)</span></strong><span style="color: black;">：常染色体显性遗传性<span style="color: black;">疾患</span>，家族聚集性的特征，<span style="color: black;">病人</span>本身</span><span style="color: black;">低密度脂蛋白胆固醇（LDL-C）数值<span style="color: black;">反常</span>超高(是正<span style="color: black;">一般人</span>2倍以上)</span><span style="color: black;">。本病最特征的临床表现为</span><span style="color: black;">血LDL-C水平<span style="color: black;">升高</span>、黄色瘤、角膜弓和早发性冠心病</span><span style="color: black;">。中国人群总体发病率为0.2%。家族性高胆固醇血症是<span style="color: black;">因为</span></span><span style="color: black;">LDLR基因, APOB基因, PCSK9基因</span><span style="color: black;">缺陷<span style="color: black;">导致</span>。<span style="color: black;">按照</span>LDL-R基因缺陷类型<span style="color: black;">区别</span>，<span style="color: black;">疾患</span>严重程度<span style="color: black;">亦</span><span style="color: black;">区别</span>。严重型(纯合子型)的<span style="color: black;">病人</span>，在儿童时期就患上严重的心血管<span style="color: black;">疾患</span>，会在20-30岁死亡。较轻类型(杂合子)的<span style="color: black;">病人</span>，血脂<span style="color: black;">上升</span>水平不如严重型，但<span style="color: black;">都数</span>在30-40岁时会患上心血管<span style="color: black;">疾患</span>。</span></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/8e00ebaa06324615a7dbc5dc78c25019~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=WsqkmRNIUBIsTMCwrUiCKg43wpg%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/fc8c0efb57694b8b82d98f2be0bbb3ab~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=cdBgVMlXAglBRV01CwakS%2B%2FhLAo%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/4f225579cbba4523841e782b46ffaa45~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=Y%2FxRskdHWL%2FhuEGj%2F5jCUhph5O4%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">家族性乳糜微粒血症<span style="color: black;">综合症</span>(Familial chylomicronemia syndrome,FCS)</span></strong>，又<span style="color: black;">叫作</span>脂蛋白脂肪酶缺乏症，需<span style="color: black;">长时间</span>限制<span style="color: black;">膳食</span>中脂肪的含量。发病早，多于10岁以前出现<span style="color: black;">急性<span style="color: black;">爆发</span>性腹痛</span>，<span style="color: black;">肝脾中度肿大，视网膜血管苍白，<span style="color: black;">平常</span>皮肤黄色瘤</span>，表现为<span style="color: black;">病人</span><span style="color: black;">身体</span>缺乏脂蛋白脂肪酶，使血液中的甘油三酯（高于正<span style="color: black;">一般人</span>10倍）和乳糜微粒浓度<span style="color: black;">上升</span>。2012年11月，欧盟首次<span style="color: black;">准许</span>了用于该病的基因<span style="color: black;">药品</span>Glybera，但<span style="color: black;">花费</span>昂贵，<span style="color: black;">病人</span>治疗<span style="color: black;">花费</span>可能高达125万欧元。脂蛋白脂酶缺乏病症<span style="color: black;">非常</span>罕见，每百万人中<span style="color: black;">大概</span>一到两例<span style="color: black;">病人</span>。<span style="color: black;">日前</span><span style="color: black;">发掘</span><span style="color: black;">有五个基因缺陷会<span style="color: black;">导致</span>这个病，分别是 </span><span style="color: black;">LPL基因</span><span style="color: black;"> (</span><span style="color: black;">&gt; 90%</span><span style="color: black;"> 的FCS是<span style="color: black;">由于</span>这个基因缺陷)、</span><span style="color: black;">APOC2基因</span><span style="color: black;">、</span><span style="color: black;">APOA5基因</span><span style="color: black;">、</span><span style="color: black;">LMF1基因</span><span style="color: black;">、</span><span style="color: black;">GPIHBP1基因</span><span style="color: black;">。</span></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/eed4ef37d6af45bb807178b7887f5638~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=cfBOmm6yJRXJSzkG1khBt3HRzog%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">家族性<span style="color: black;">反常</span>β脂蛋白血症(familial dysbetalipoproteinemia,FDBL)，又名Ⅲ型高脂蛋白血症</span></strong><span style="color: black;">。<span style="color: black;">血液</span>胆固醇和三酰甘油浓度均<span style="color: black;">显著</span><span style="color: black;">上升</span>。β-VLDL是家族性<span style="color: black;">反常</span>β脂蛋白血症的最<span style="color: black;">明显</span>表现，且<span style="color: black;">拥有</span><span style="color: black;">显著</span>的家族聚集性。</span><span style="color: black;">临床表现有掌纹状体黄瘤(手掌呈橙色或黄色变色)和肘部和膝盖上的结节性黄瘤</span><span style="color: black;">。这种<span style="color: black;">疾患</span>会<span style="color: black;">引起</span></span><span style="color: black;">动脉粥样硬化</span><span style="color: black;">过早<span style="color: black;">出现</span>，<span style="color: black;">因此呢</span>可能会<span style="color: black;">引起</span></span><span style="color: black;">冠状动脉<span style="color: black;">疾患</span></span><span style="color: black;">和<span style="color: black;">周边</span>血管<span style="color: black;">疾患</span>的<span style="color: black;">初期</span><span style="color: black;">爆发</span>，从而<span style="color: black;">引起</span></span><span style="color: black;">心脏病<span style="color: black;">爆发</span></span><span style="color: black;">，即心肌梗死、运动后胸痛，即青壮年或中年<span style="color: black;">病人</span></span><span style="color: black;">心绞痛或中风</span><span style="color: black;">。男性<span style="color: black;">病人</span>较女性多见，<span style="color: black;">况且</span>男性<span style="color: black;">病人</span>的发病年龄<span style="color: black;">显著</span>较女性提前。女性<span style="color: black;">一般</span>在绝经期后才发病。<span style="color: black;">同期</span>存在糖尿病或甲状腺功能减低<span style="color: black;">亦</span>可使本病发病年龄提前。家族性<span style="color: black;">反常</span>β脂蛋白血症由</span><span style="color: black;">ApoE</span><span style="color: black;">基因缺陷<span style="color: black;">导致</span>。</span></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/5e27d267463243508fb3f890041ae240~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=uH1y7ZlKm2jKGc6rhPI1Jhvz0wA%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">卵磷脂胆固醇酰基转移酶缺乏症(lecithin cholesterol ester transferase deficiency，LCATD)，</span></strong><span style="color: black;"><span style="color: black;">是由于</span></span><span style="color: black;">LCAT基因</span><span style="color: black;">缺陷<span style="color: black;">导致</span>的。LCAT部分缺乏的<span style="color: black;">病人</span>可能表现为</span><span style="color: black;">贫血</span><span style="color: black;">和</span><span style="color: black;">肝脾肿大</span><span style="color: black;">(<span style="color: black;">重点</span>表现)。其他临床表现是</span><span style="color: black;">肾功能不全</span><span style="color: black;">和</span><span style="color: black;">特征性角膜混浊(鱼眼病)</span><span style="color: black;">。家族性LCAT缺乏和鱼眼病与过早</span><span style="color: black;">动脉粥样硬化</span><span style="color: black;"><span style="color: black;">危害</span>的<span style="color: black;">增多</span><span style="color: black;">相关</span>。卵磷脂胆固醇脂酰转移酶（LCAT）由肝合成释放入血液，以游离或与脂蛋白结合的形式存在，是一种在<span style="color: black;">血液</span>中起催化<span style="color: black;">功效</span>的酶，其<span style="color: black;">功效</span>是将HDL的卵磷脂的C2位不饱和脂肪酸转移给游离胆固醇，生成溶血卵磷脂和胆固醇酯。<span style="color: black;">血液</span>胆固醇几乎70%-80%是胆固醇酯，均是LCAT催化生成<span style="color: black;">导致</span>。</span></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p26-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/d0a33ca538334a3c841b400d7abeeb34~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=dYWih8TM6Zu7jlwnDFAtYEvdPFE%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">家族性低β脂蛋白血症(familial hypobetalipoproteinemia,FHBL)</span></strong><span style="color: black;"><span style="color: black;">，由</span></span><span style="color: black;">APOB基因</span><span style="color: black;"><span style="color: black;">缺陷<span style="color: black;">导致</span>，在<span style="color: black;">少许</span><span style="color: black;">状况</span>下，它可能<span style="color: black;">是由于</span>其他基因突变<span style="color: black;">导致</span>的，致使apoB载脂蛋白的合成<span style="color: black;">反常</span>，<span style="color: black;">血液</span>中低密度脂蛋白胆固醇和β脂蛋白浓度呈极<span style="color: black;">显著</span>降低。<span style="color: black;">区别</span><span style="color: black;">病人</span>的病情的严重程度差别很大。轻型<span style="color: black;">病人</span>可能<span style="color: black;">无</span>任何症状或体征。大部分人会<span style="color: black;">显现</span></span></span><span style="color: black;"><span style="color: black;">肝脏脂肪的<span style="color: black;">反常</span>积聚(脂肪肝)</span></span><span style="color: black;"><span style="color: black;">。在严重的<span style="color: black;">状况</span>下，这可能发展为</span></span><span style="color: black;"><span style="color: black;">肝硬化</span></span><span style="color: black;"><span style="color: black;">。有些人在童年时期<span style="color: black;">亦</span>有消化问题，<span style="color: black;">引起</span><span style="color: black;">没法</span>茁壮成长。平时需要减少<span style="color: black;">膳食</span>中的脂肪和<span style="color: black;">弥补</span>维生素E。</span></span></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p26-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/d07b7b2204094b6b86f097ce56f30a40~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=05BSndJ11pRso%2FFR%2B3yp9HPUvfo%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">β脂蛋白缺乏症(abetalipoproteinemia,ABL)</span></strong><span style="color: black;"><span style="color: black;">亦</span><span style="color: black;">叫作</span>棘红细胞β-脂蛋白缺乏症,是家族性遗传性<span style="color: black;">疾患</span>。以血中</span><span style="color: black;"><span style="color: black;">海量</span>棘形红细胞</span><span style="color: black;">和</span><span style="color: black;">β脂蛋白</span><span style="color: black;">缺如或减少为特征。男女发病率无<span style="color: black;">显著</span>差别。本病的五个基本特征是：β-脂蛋白缺乏，脂肪吸收不良，棘红细胞<span style="color: black;">增加</span>，</span><span style="color: black;">共济失调和视网膜色素变性</span><span style="color: black;">。</span></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">病人<span style="color: black;">首要</span><span style="color: black;">显现</span>脂肪性腹泻和腹胀，但到4～5岁腹泻常<span style="color: black;">自动</span>减轻。约在6岁<span style="color: black;">上下</span>逐步<span style="color: black;">显现</span></span><span style="color: black;">进行性共济失调，腱反射消失</span><span style="color: black;">，</span><span style="color: black;">病理征阳性和双下肢深感觉消失</span><span style="color: black;">。<span style="color: black;">也</span>可伴</span><span style="color: black;">发肌肉萎缩、眼球震颤、眼睑下垂、眼外肌麻痹，手足徐动，脊柱侧凸</span><span style="color: black;">等征。<span style="color: black;">少许</span><span style="color: black;">病人</span>有</span><span style="color: black;">心脏扩大</span><span style="color: black;">，心电图<span style="color: black;">反常</span>。实验室<span style="color: black;">检测</span>可<span style="color: black;">发掘</span>血清中β-脂蛋白缺乏，血棘红细胞<span style="color: black;">增加</span>，血维生素E低，血胆固醇和三酰甘油低。<span style="color: black;">周边</span>神经活检可见脱髓鞘改变。分子遗传学<span style="color: black;">科研</span><span style="color: black;">发掘</span></span><span style="color: black;">微粒体三酰甘油转运蛋白(microsomal triglyceride transfer protein，MTP)基因</span><span style="color: black;">突变<span style="color: black;">导致</span>了该<span style="color: black;">疾患</span>，可能与维生素E代谢<span style="color: black;">反常</span><span style="color: black;">相关</span>。本病尚无特效疗法，<span style="color: black;">重点</span>是<span style="color: black;">尽可能</span>减少脂肪<span style="color: black;">膳食</span>，<span style="color: black;">运用</span>中链三酰甘油，<span style="color: black;">海量</span><span style="color: black;">弥补</span>维生素E可能有效。</span></p>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/ff2a60de07ee4ba697546fa0cca8a07e~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=CMYFCOCaPH1CH58xvfqE85ZtCQA%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://p3-sign.toutiaoimg.com/tos-cn-i-qvj2lq49k0/f9440e9906784541b54177d09fe87710~noop.image?_iz=58558&amp;from=article.pc_detail&amp;lk3s=953192f4&amp;x-expires=1728785902&amp;x-signature=ZPwKrtF75rpJRjg84CahFy6ed6g%3D" style="width: 50%; margin-bottom: 20px;"></div>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;">有<span style="color: black;">那些</span>表现需要<span style="color: black;">思虑</span></span></span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;"><span style="color: black;">血脂<span style="color: black;">反常</span>方向的基因检测？</span></span></strong></p>一个<span style="color: black;">家族</span>中多个成员表现<span style="color: black;">流血</span>脂<span style="color: black;">反常</span>；<span style="color: black;">显现</span><span style="color: black;">特征性临床表现</span>，<span style="color: black;">例如</span>鱼眼病，角膜弓，棘红细胞，视网膜色素变性，黄色瘤等等列举在<span style="color: black;">以上</span>表格中的特征。


4lqedz 发表于 2024-11-7 21:50:09

“沙发”（SF，第一个回帖的人）‌
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