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<div class="top-level-title-block"> <div class="top-level-title-block__inner"> <h1 class="top-level-title-block__title">AHPについて</h1> </div> </div> </div> <div id="block-link-to-supervisor-page" class="block block-fixed-block-content block-fixed-block-contentlink-to-supervisor-page"> <div class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><p class="link-to-supervisor-page"><span class="link-to-supervisor-page__label">監修:</span><a href="/supervision">堀江裕先生<span class="link-to-supervisor-page__position">（島根県済生会江津総合病院名誉院長、芝浦スリーワンクリニック・ポルフィリン症外来）</span></a></p> </div> </div> <div id="block-porphyriajp-content" class="block block-system block-system-main-block"> <article role="article" about="/about-AHP/porphyria-subtypes" typeof="schema:WebPage" class="node node--type-page node--view-mode-full"> <span property="schema:name" content="ポルフィリン症の分類" class="rdf-meta hidden"></span> <div class="node__content"> <div property="schema:text" class="clearfix text-formatted field field--name-body field--type-text-with-summary field--label-hidden field__item"><h1>ポルフィリン症の分類</h1> <p>ポルフィリン症は、ヘムの生合成経路の酵素異常により、中間代謝物が体内に蓄積する遺伝性の代謝疾患です。 <span class="br">急性肝性ポルフィリン症（acute hepatic porphyria：AHP）の代表的な症状としては激しい腹痛などの消化器症状があり、それに加えて、四肢の痛みや筋力低下などの神経症状、不安や幻想・妄想などの精神症状、嘔吐・便秘などの自律神経症状を伴うことがあります。</span> <span class="br">1874年に世界で初めての症例が、1920年に日本で初めての症例が報告されました<sup>1</sup>。</span> <span class="br">ポルフィリン症は、ヘム生合成過程のどの酵素に異常があるかに応じて、9つの病型に分類されています。</span></p> <div class="image-box"> <figure class="scalable-figure"> <figcaption class="scalable-figure__caption">ポルフィリン症の病型</figcaption> <div class="js-scalable-container"> <div class="scalable-content js-scalable-content"> <div class="classification-of-porphyria-table__wrapper"> <table class="classification-of-porphyria-table"> <thead> <tr> <th colspan="2">分類</th> <th>病型</th> <th>異常酵素</th> <th>遺伝形式</th> </tr> </thead> <tbody> <tr class="classification-of-porphyria-table__ahp-row"> <td rowspan="4">急性</td> <td class="classification-of-porphyria-table__hepatic" rowspan="6">肝性</td> <td class="classification-of-porphyria-table__type">急性間欠性ポルフィリン症（AIP）</td> <td>PBGD/HMBS</td> <td>常染色体<br /> 顕性遺伝（優性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__ahp-row"> <td class="classification-of-porphyria-table__type">遺伝性コプロポルフィリン症（HCP）</td> <td>CPO</td> <td>常染色体<br /> 顕性遺伝（優性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__ahp-row"> <td class="classification-of-porphyria-table__type">異型ポルフィリン症（VP）</td> <td>PPO</td> <td>常染色体<br /> 顕性遺伝（優性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__ahp-row"> <td class="classification-of-porphyria-table__type">ALA脱水酵素欠損ポルフィリン症（ADP）</td> <td>ALAD</td> <td>常染色体<br /> 潜性遺伝（劣性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__cp-row"> <td rowspan="6">皮膚型</td> <td class="classification-of-porphyria-table__type">晩発性皮膚型ポルフィリン症（PCT）</td> <td>UROD</td> <td>常染色体<br /> 顕性遺伝（優性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__cp-row"> <td class="classification-of-porphyria-table__type" rowspan="2">肝性骨髄性ポルフィリン症（HEP）</td> <td rowspan="2">UROD</td> <td rowspan="2">常染色体<br /> 潜性遺伝（劣性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__cp-row"> <td class="classification-of-porphyria-table__myeloid" rowspan="4">骨髄性</td> </tr> <tr class="classification-of-porphyria-table__cp-row"> <td class="classification-of-porphyria-table__type">先天性骨髄性ポルフィリン症（CEP）</td> <td>UROS</td> <td>常染色体<br /> 潜性遺伝（劣性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__cp-row"> <td class="classification-of-porphyria-table__type">骨髄性プロトポルフィリン症（EPP）</td> <td>FeC</td> <td>常染色体<br /> 顕性遺伝（優性遺伝）</td> </tr> <tr class="classification-of-porphyria-table__cp-row"> <td class="classification-of-porphyria-table__type">X連鎖顕性（優性）プロトポルフィリン症（XLPP）</td> <td>ALAS2</td> <td>X連鎖<br /> 顕性遺伝（優性遺伝）</td> </tr> </tbody> </table> <p class="classification-of-porphyria-table__note"><span>PBGD：PBG脱アミノ酵素、</span><span>HMBS：ヒドロキシメチルビラン合成酵素、</span><span>CPO：コプロポルフィリノーゲン酸化酵素、</span><span>PPO：プロトポルフィリノーゲン酸化酵素、</span><span>ALAD：ALA脱水酵素、</span><span>UROD：ウロポルフィリノーゲン脱炭酸酵素、</span><span>UROS：ウロポルフィリノーゲンⅢ合成酵素、</span><span>FeC：フェロケラターゼ、</span><span>ALAS2：アミノレブリン酸合成酵素2</span></p> </div> </div> </div> </figure> </div> <h2>臨床症状による分類</h2> <p>腹痛や運動麻痺などの、急性の神経症状が生じるものを「急性肝性ポルフィリン症」、光線過敏症など皮膚の症状を主体とするものを「皮膚型ポルフィリン症（cutaneous porphyria：CP）」に分類しています。AHPの発症頻度では、急性間欠性ポルフィリン症（acute intermittent porphyria：AIP）が最も多いのが特徴です。</p> <h2>ポルフィリン代謝異常が起こる部位による分類</h2> <p>異常酵素が過剰に産生される部位に基づいて、肝細胞内で起こるものを「肝性」、赤芽球内で起こるものを「骨髄性」に分類しています。</p> <dl class="references"> <dt class="references__label">参考文献</dt> <dd class="references__content"> <ol class="references__list"> <li class="references__item"><span>近藤雅雄, 矢野雄三, 浦田郡平. <i>ALA-Porphyrin Science</i>. 2012;1(2):73-82.</span></li> </ol> </dd> </dl> <ul class="node-pc-pager"> <li class="node-pc-pager__item 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