http://120.24.161.253:5617/index.php?action=history&feed=atom&title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0-%E5%91%95%E5%90%90 2026-05-13T11:56:09Z 本wiki的该页面的版本历史 MediaWiki 1.30.0 http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0-%E5%91%95%E5%90%90&diff=2028182&oldid=prev 2026-04-16T04:38:02Z

<p>导入1个版本</p> <table class="diff diff-contentalign-left" data-mw="interface"> <tr style="vertical-align: top;" lang="zh-CN"> <td colspan="1" style="background-color: white; color:black; text-align: center;">←上一版本</td> <td colspan="1" style="background-color: white; color:black; text-align: center;">2026年4月16日 (四) 04:38的版本</td> </tr><tr><td colspan="2" style="text-align: center;" lang="zh-CN"><div class="mw-diff-empty">（没有差异）</div> </td></tr></table>

KGadmin http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0-%E5%91%95%E5%90%90&diff=2007790&oldid=prev 2026-04-15T13:17:27Z

<p>导入1个版本</p> <table class="diff diff-contentalign-left" data-mw="interface"> <col class="diff-marker" /> <col class="diff-content" /> <col class="diff-marker" /> <col class="diff-content" /> <tr style="vertical-align: top;" lang="zh-CN"> <td colspan="2" style="background-color: white; color:black; text-align: center;">←上一版本</td> <td colspan="2" style="background-color: white; color:black; text-align: center;">2026年4月15日 (三) 13:17的版本</td> </tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l5" >第5行：</td> <td colspan="2" class="diff-lineno">第5行：</td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>===<del class="diffchange diffchange-inline">原发性肉碱缺乏症临床和基因突变特点及1例产前诊断研究</del>===</div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>===<ins class="diffchange diffchange-inline">经基因分析确诊的原发性肉碱缺乏症1例并文献复习</ins>===</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div><del class="diffchange diffchange-inline">摘要 目的 探讨[[原发性肉碱缺乏症]]的临床特点、基因突变及产前基因诊断. 方法 回顾分析8例[[原发性肉碱缺乏症]]患儿的临床资料、基因突变分析结果,以及1例患儿母亲再次妊娠羊水细胞产前基因诊断结果. </del>结果 <del class="diffchange diffchange-inline">6例男性、2例女性患儿,发病年龄5个月～3岁</del>,<del class="diffchange diffchange-inline">以</del>[[呕吐]]<del class="diffchange diffchange-inline">、腹泻、抽搐、意识障碍等就诊.血浆游离肉碱均降低(0.67～4.184μmol/L),血红蛋白均偏低(67～110 g/L).6例患儿存在不同程度肝功能和心肌酶异常,6例血氨升高,2例血糖降低.心脏彩超示心肌病4例.心电图异常2例.SLC22A5基因共检出6种突变</del>,<del class="diffchange diffchange-inline">分别为c.760C&amp;gt;T(p.Arg254X)、c.1400C&amp;gt;G(p.Ser467Cys)c.844dupC(p.R282PfsX10)、IVS2+1G&amp;gt;T、c.3G&amp;gt;T(p.Met1Ile)、c.338G&amp;gt;A(p.Cys113Tyr).1例患儿染色体微阵列分析显示5q23.3q31.3区域存在大片段杂合性缺失.1例患儿母亲再次妊娠18周时的羊水细胞检出c.760C&amp;gt;T杂合突变,提示胎儿为携带者,出生后外周血SLC22A5基因存在一个c.760C&amp;gt;T杂合突变位点,血浆游离肉碱浓度无异常.除1例患儿猝死外,其余7例经左卡尼汀治疗有效,随访中. 结论 </del>[[原发性肉碱缺乏症]]<del class="diffchange diffchange-inline">患儿起病急,心肌、肝脏损伤尤为突出,左卡尼汀治疗效果肯定.SLC22A5基因分析可作为确诊和产前诊断的依据</del>.</div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>结果 <ins class="diffchange diffchange-inline">女性患儿</ins>,<ins class="diffchange diffchange-inline">于3个月出现反应差、</ins>[[呕吐]]<ins class="diffchange diffchange-inline">及嗜睡</ins>,<ins class="diffchange diffchange-inline">经血糖、血液氨基酸、酯酰肉碱谱分析及影像学检查考虑</ins>[[原发性肉碱缺乏症]]<ins class="diffchange diffchange-inline">可能性大</ins>.</div></td></tr> <!-- diff cache key mediawiki:diff:version:1.11a:oldid:2028181:newid:2007790 --> </table>

KGadmin http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0-%E5%91%95%E5%90%90&diff=2028181&oldid=prev 2026-04-13T13:56:59Z

<p>修改1</p> <table class="diff diff-contentalign-left" data-mw="interface"> <col class="diff-marker" /> <col class="diff-content" /> <col class="diff-marker" /> <col class="diff-content" /> <tr style="vertical-align: top;" lang="zh-CN"> <td colspan="2" style="background-color: white; color:black; text-align: center;">←上一版本</td> <td colspan="2" style="background-color: white; color:black; text-align: center;">2026年4月13日 (一) 13:56的版本</td> </tr><tr><td colspan="2" class="diff-lineno" id="mw-diff-left-l5" >第5行：</td> <td colspan="2" class="diff-lineno">第5行：</td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"></td></tr> <tr><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td><td class='diff-marker'>&#160;</td><td style="background-color: #f9f9f9; color: #333333; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #e6e6e6; vertical-align: top; white-space: pre-wrap;"><div>==来源==</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>===<del class="diffchange diffchange-inline">经基因分析确诊的原发性肉碱缺乏症1例并文献复习</del>===</div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>===<ins class="diffchange diffchange-inline">原发性肉碱缺乏症临床和基因突变特点及1例产前诊断研究</ins>===</div></td></tr> <tr><td class='diff-marker'>−</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>结果 <del class="diffchange diffchange-inline">女性患儿</del>,<del class="diffchange diffchange-inline">于3个月出现反应差、</del>[[呕吐]]<del class="diffchange diffchange-inline">及嗜睡</del>,<del class="diffchange diffchange-inline">经血糖、血液氨基酸、酯酰肉碱谱分析及影像学检查考虑</del>[[原发性肉碱缺乏症]]<del class="diffchange diffchange-inline">可能性大</del>.</div></td><td class='diff-marker'>+</td><td style="color:black; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div><ins class="diffchange diffchange-inline">摘要 目的 探讨[[原发性肉碱缺乏症]]的临床特点、基因突变及产前基因诊断. 方法 回顾分析8例[[原发性肉碱缺乏症]]患儿的临床资料、基因突变分析结果,以及1例患儿母亲再次妊娠羊水细胞产前基因诊断结果. </ins>结果 <ins class="diffchange diffchange-inline">6例男性、2例女性患儿,发病年龄5个月～3岁</ins>,<ins class="diffchange diffchange-inline">以</ins>[[呕吐]]<ins class="diffchange diffchange-inline">、腹泻、抽搐、意识障碍等就诊.血浆游离肉碱均降低(0.67～4.184μmol/L),血红蛋白均偏低(67～110 g/L).6例患儿存在不同程度肝功能和心肌酶异常,6例血氨升高,2例血糖降低.心脏彩超示心肌病4例.心电图异常2例.SLC22A5基因共检出6种突变</ins>,<ins class="diffchange diffchange-inline">分别为c.760C&amp;gt;T(p.Arg254X)、c.1400C&amp;gt;G(p.Ser467Cys)c.844dupC(p.R282PfsX10)、IVS2+1G&amp;gt;T、c.3G&amp;gt;T(p.Met1Ile)、c.338G&amp;gt;A(p.Cys113Tyr).1例患儿染色体微阵列分析显示5q23.3q31.3区域存在大片段杂合性缺失.1例患儿母亲再次妊娠18周时的羊水细胞检出c.760C&amp;gt;T杂合突变,提示胎儿为携带者,出生后外周血SLC22A5基因存在一个c.760C&amp;gt;T杂合突变位点,血浆游离肉碱浓度无异常.除1例患儿猝死外,其余7例经左卡尼汀治疗有效,随访中. 结论 </ins>[[原发性肉碱缺乏症]]<ins class="diffchange diffchange-inline">患儿起病急,心肌、肝脏损伤尤为突出,左卡尼汀治疗效果肯定.SLC22A5基因分析可作为确诊和产前诊断的依据</ins>.</div></td></tr> <!-- diff cache key mediawiki:diff:version:1.11a:oldid:2007789:newid:2028181 --> </table>

Admin http://120.24.161.253:5617/index.php?title=%E5%8E%9F%E5%8F%91%E6%80%A7%E8%82%89%E7%A2%B1%E7%BC%BA%E4%B9%8F%E7%97%87-%E4%B8%B4%E5%BA%8A%E8%A1%A8%E7%8E%B0-%E5%91%95%E5%90%90&diff=2007789&oldid=prev 2026-04-13T13:56:59Z

<p>修改1</p> <p><b>新页面</b></p><div>主实体：[[原发性肉碱缺乏症]]，关系：[[临床表现]] ，尾实体：[[呕吐]]<br /> <br /> ==关系介绍==<br /> 待补充<br /> <br /> ==来源==<br /> ===经基因分析确诊的原发性肉碱缺乏症1例并文献复习===<br /> 结果 女性患儿,于3个月出现反应差、[[呕吐]]及嗜睡,经血糖、血液氨基酸、酯酰肉碱谱分析及影像学检查考虑[[原发性肉碱缺乏症]]可能性大.</div>

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