{"id":9206,"date":"2017-08-07T00:00:00","date_gmt":"2017-08-06T16:00:00","guid":{"rendered":"\/\/www.afterroberto.com\/?guid=2652008581d2c00a0b87295f1db36222"},"modified":"2018-08-17T18:11:34","modified_gmt":"2018-08-17T10:11:34","slug":"%e3%80%90%e9%86%ab%e7%99%82%e5%81%a5%e5%ba%b7%e3%80%91%e9%86%ab%e8%a8%80%e6%9c%89%e7%90%86%ef%bc%9a%e5%b0%8f%e6%9f%a5%e5%88%a9%e7%9a%84%e7%bd%95%e8%a6%8b%e7%97%85","status":"publish","type":"post","link":"\/\/www.afterroberto.com\/%e3%80%90%e9%86%ab%e7%99%82%e5%81%a5%e5%ba%b7%e3%80%91%e9%86%ab%e8%a8%80%e6%9c%89%e7%90%86%ef%bc%9a%e5%b0%8f%e6%9f%a5%e5%88%a9%e7%9a%84%e7%bd%95%e8%a6%8b%e7%97%85\/","title":{"rendered":"\u91ab\u8a00\u6709\u7406\uff1a\u5c0f\u67e5\u5229\u7684\u7f55\u898b\u75c5"},"content":{"rendered":"

\u3010\u660e\u5831\u5c08\u8a0a\u3011\u82f1\u570b\u4e00\u540d11\u500b\u6708\u5927\u7537\u5b30\u300c\u5c0f\u67e5\u5229\u300d\uff0c\u60a3\u6709\u7f55\u898b\u5148\u5929\u6027\u75be\u75c5\u300c\u7dda\u7c92\u9ad4\u812b\u6c27\u6838\u7cd6\u6838\u9178\u8017\u7aed\u75c7\u5019\u7fa4\u300d\uff08Mitochondrial DNA depletion syndrome\uff09\uff0c\u5c0e\u81f4\u5168\u8eab\u808c\u8089\u840e\u7e2e\uff0c\u591a\u500b\u5668\u5b98\u8870\u7aed\u3002\u5b30\u5152\u5eb7\u5fa9\u7121\u671b\uff0c\u91ab\u9662\u5efa\u8b70\u70ba\u300c\u5c0f\u67e5\u5229\u300d\u62d4\u9664\u6240\u6709\u7dad\u751f\u5100\u5668\uff0c\u8b93\u4ed6\u5b89\u8a73\u8fad\u4e16\u3002\u300c\u5c0f\u67e5\u5229\u300d\u7684\u7236\u6bcd\u5927\u529b\u53cd\u5c0d\uff0c\u6700\u5f8c\u96d9\u65b9\u5c0d\u7c3f\u516c\u5802\u3002\u7236\u6bcd\u8d77\u521d\u8981\u6c42\u6cd5\u5ead\u51c6\u8a31\u4ed6\u5011\u5e36\u300c\u5c0f\u67e5\u5229\u300d\u524d\u5f80\u7f8e\u570b\uff0c\u63a5\u53d7\u8a66\u9a57\u6027\u6cbb\u7642\uff0c\u4f46\u6700\u5f8c\u53ea\u5e0c\u671b\u53ef\u4ee5\u5e36\u300c\u5c0f\u67e5\u5229\u300d\u56de\u5bb6\u5171\u5ea6\u6700\u5f8c\u6578\u5929\u7684\u65e5\u5b50\u3002\u300c\u5c0f\u67e5\u5229\u300d\u7684\u500b\u6848\u5f15\u767c\u4e0d\u5c11\u6cd5\u5f8b\u53ca\u9053\u5fb7\u722d\u8b70\uff0c\u4ee4\u5168\u7403\u95dc\u6ce8\u3002\u82f1\u570b\u53ca\u6b50\u6d32\u4eba\u6b0a\u6cd5\u9662\u6700\u7d42\u5224\u6c7a\u91ab\u9662\u52dd\u8a34\uff0c\u300c\u5c0f\u67e5\u5229\u300d\u5728\u91ab\u9662\u5b89\u8a73\u96e2\u4e16\u3002<\/p>\n

\u6bcf\u500b\u4eba\u9ad4\u7d30\u80de\u5305\u542b\u300c\u7d30\u80de\u6838\u300d\uff08cellular nucleus\uff09\u3001\u300c\u7d30\u80de\u8cea\u300d\uff08cytoplasm\uff09\u53ca\u300c\u7d30\u80de\u819c\u300d\uff08cellular membrane\uff09\u4e09\u500b\u90e8\u5206\uff1b\u300c\u7dda\u7c92\u9ad4\u300d\uff08mitochondria\uff09\u5c6c\u65bc\u300c\u7d30\u80de\u8cea\u300d\u5167\u5176\u4e2d\u4e00\u7a2e\u300c\u7d30\u80de\u5668\u300d\uff08organelle\uff09\uff0c\u5167\u542b\u5c0f\u91cf\u6e90\u81ea\u6bcd\u5375\u7684\u300c\u7dda\u7c92\u9ad4\u812b\u6c27\u6838\u7cd6\u6838\u9178\u300d\uff08mitochondrial DNA\uff09\u3002\u7d30\u80de\u7528\u300c\u8461\u8404\u7cd6\u300d\uff08glucose\uff09\u4f5c\u71c3\u6599\uff0c\u5176\u300c\u6c27\u5316\u4f5c\u7528\u300d\uff08oxidation\uff09\u6d89\u53ca\u300c\u9ec3\u7d20\u817a\u560c\u5464\u4e8c\u6838\u82f7\u9178\u300d\uff08Flavin Adenine Dinucleotide, FAD\uff09\u53ca\u300c\u7159\u9170\u80fa\u817a\u560c\u5464\u4e8c\u6838\u82f7\u9178\u300d\uff08Nicotinamide adenine dinucleotide, NAD\uff09\u5169\u7a2e\u7269\u8cea\u7684\u300c\u6c2b\u5316\u904e\u7a0b\u300d\uff08hydrogenation\uff09\uff0c\u6700\u5f8c\u300c\u7dda\u7c92\u9ad4\u300d\u63a5\u68d2\uff0c\u5c07\u5b83\u5011\u8f49\u5316\u6210\u300c\u4e09\u78f7\u9178\u817a\u82f7\u300d\uff08Adenosine Triphosphate, ATP\uff09\uff0c\u70ba\u7d30\u80de\u63d0\u4f9b\u6240\u9700\u80fd\u91cf\uff0c\u56e0\u800c\u300c\u7dda\u7c92\u9ad4\u300d\u53c8\u88ab\u7a31\u70ba\u7d30\u80de\u7684\u300c\u767c\u96fb\u5ee0\u300d\uff08power house\uff09\u3002<\/p>\n

\u5927\u8166\u809d\u81df\u7b49\u5668\u5b98\u53d7\u5f71\u97ff<\/p>\n

\u300c\u7dda\u7c92\u9ad4\u812b\u6c27\u6838\u7cd6\u6838\u9178\u8017\u7aed\u75c7\u5019\u7fa4\u300d\u4e43\u4e00\u7d44\u907a\u50b3\u6027\u75be\u75c5\uff0c\u82e5\u7236\u6bcd\u540c\u6642\u651c\u6709\u96b1\u6027\u7684\u7570\u5e38\u57fa\u56e0\uff0c\u4e0b\u4e00\u4ee3\u5373\u6709\u56db\u5206\u4e4b\u4e00\u6a5f\u6703\u67d3\u75c5\uff0c\u5c6c\u300c\u5e38\u67d3\u8272\u9ad4\u96b1\u6027\u907a\u50b3\u300d\uff08autosomal recessive inheritance\uff09\uff0c\u60a3\u8005\u9ad4\u5167\u7d30\u80de\u7d44\u7e54\u7684\u300c\u7dda\u7c92\u9ad4\u812b\u6c27\u6838\u7cd6\u6838\u9178\u300d\u5927\u5e45\u4e0b\u964d\uff0c\u53d7\u5f71\u97ff\u5668\u5b98\u5305\u62ec\u300c\u808c\u8089\u300d\uff08myopathy\uff09\u3001\u300c\u809d\u81df\u300d\uff08hepatopathy\uff09\u3001\u300c\u5927\u8166\u300d\uff08encephalomyopathy\uff09\u53ca\u300c\u8178\u80c3\u6d88\u5316\u9053\u300d\uff08gastrointestinal tract\uff09\uff1b\u76ee\u524d\u672a\u6709\u6548\u7642\u6cd5\uff0c\u60a3\u8005\u4e00\u822c\u65e9\u901d\uff0c\u53ea\u6709\u6975\u5c11\u6578\u53ef\u6d3b\u81f3\u5341\u591a\u6b72\u3002\u79d1\u5b78\u5bb6\u6b63\u7a4d\u6975\u5c0b\u627e\u6709\u6548\u7684\u9810\u9632\u6216\u6cbb\u7642\u65b9\u6cd5\u3002<\/p>\n

\u6587\uff1a\u6881\u61b2\u5b6b\uff08\u8840\u6db2\u53ca\u8840\u6db2\u816b\u7624\u79d1\u5c08\u79d1\u91ab\u751f\uff09<\/p>\n

https:\/\/health2.mingpao.com\/ftp\/Health2\/20170807\/news\/_07YC001_.jpg\u7f55\u898b\u75c5\u7537\u5b30\u2014\u2014\u82f1\u570b\u7537\u5b30\u67e5\u5229\u52a0\u5fb7\u60a3\u6709\u7f55\u898b\u907a\u50b3\u75c5\uff0c\u5f15\u767c\u5176\u7236\u6bcd\u548c\u91ab\u9662\u9593\u7684\u77db\u76fe\uff0c\u6700\u5f8c\u8981\u5c0d\u7c3f\u516c\u5802\u3002\uff08\u8cc7\u6599\u5716\u7247\uff09;<\/inline><\/p>\n","protected":false},"excerpt":{"rendered":"

【明報專訊】英國一名11個月大男嬰「小查利」，患有罕見先天性疾病「線粒體脫氧核糖核酸耗竭症候群」（Mitochondrial DNA depletion syndrome），導致全身肌肉萎縮，多個器官衰竭。嬰兒康復無望，醫院建議為「小查利」拔除所有維生儀器，讓他安詳辭世。「小查利」的父母大力反對，最後雙方對簿公堂。父母起初要求法庭准許他們帶「小查利」前往美國，接受試驗性治療，但最後只希望可以帶「小查利」回家共度最後數天的日子。「小查利」的個案引發不少法律及道德爭議，令全球關注。英國及歐洲人權法院最終判決醫院勝訴，「小查利」在醫院安詳離世。<\/p>\n

每個人體細胞包含「細胞核」（cellular nucleus）、「細胞質」（cytoplasm）及「細胞膜」（cellular membrane）三個部分；「線粒體」（mitochondria）屬於「細胞質」內其中一種「細胞器」（organelle），內含小量源自母卵的「線粒體脫氧核糖核酸」（mitochondrial DNA）。細胞用「葡萄糖」（glucose）作燃料，其「氧化作用」（oxidation）涉及「黃素腺嘌呤二核苷酸」（Flavin Adenine Dinucleotide, FAD）及「煙酰胺腺嘌呤二核苷酸」（Nicotinamide adenine dinucleotide, NAD）兩種物質的「氫化過程」（hydrogenation），最後「線粒體」接棒，將它們轉化成「三磷酸腺苷」（Adenosine Triphosphate, ATP），為細胞提供所需能量，因而「線粒體」又被稱為細胞的「發電廠」（power house）。<\/p>\n

大腦肝臟等器官受影響<\/p>\n

「線粒體脫氧核糖核酸耗竭症候群」乃一組遺傳性疾病，若父母同時攜有隱性的異常基因，下一代即有四分之一機會染病，屬「常染色體隱性遺傳」（autosomal recessive inheritance），患者體內細胞組織的「線粒體脫氧核糖核酸」大幅下降，受影響器官包括「肌肉」（myopathy）、「肝臟」（hepatopathy）、「大腦」（encephalomyopathy）及「腸胃消化道」（gastrointestinal tract）；目前未有效療法，患者一般早逝，只有極少數可活至十多歲。科學家正積極尋找有效的預防或治療方法。<\/p>\n

文：梁憲孫（血液及血液腫瘤科專科醫生）<\/p>\n

https:\/\/health2.mingpao.com\/ftp\/Health2\/20170807\/news\/_07YC001_.jpg罕見病男嬰——英國男嬰查利加德患有罕見遺傳病，引發其父母和醫院間的矛盾，最後要對簿公堂。（資料圖片）;<\/inline><\/p>\n","protected":false},"author":2,"featured_media":9293,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"rank_math_lock_modified_date":false,"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[3],"tags":[972,974,1172,973,855],"class_list":["post-9206","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-3","tag-972","tag-974","tag-1172","tag-973","tag-855"],"publishpress_future_action":{"enabled":false,"date":"2026-11-16 11:57:10","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/posts\/9206"}],"collection":[{"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/comments?post=9206"}],"version-history":[{"count":0,"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/posts\/9206\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/media\/9293"}],"wp:attachment":[{"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/media?parent=9206"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/categories?post=9206"},{"taxonomy":"post_tag","embeddable":true,"href":"\/\/www.afterroberto.com\/wp-json\/wp\/v2\/tags?post=9206"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}