臨床検査56巻10号

2012年10月発行

今月の主題 鉄代謝のバイオマーカー 各論 〈疾患と鉄代謝〉

わが国における遺伝性鉄過剰症の遺伝子診断

著者： 巽康彰¹ 服部亜衣¹ 加藤宏一¹ 林久男¹

所属機関： ¹愛知学院大学薬学部薬物治療学講座

ページ範囲：P.1103 - P.1109

わが国の遺伝性鉄過剰症の分子病態も一部で明らかになった．白人の古典型ヘモクロマトーシスであるHFEのC282Yは1人，他にHFEの新規変異の1人が確認された．若年型の遺伝子であるHJVの変異は4家系の8人で確認された．その一部の臨床病型は古典型であった．最近HAMPの変異による若年型が1人確認された．わが国の主な古典型であるTFR2の変異は，5家系の7人で確認された．フェロポルチン病は，SLC40A1の変異が，3家系の4人で確認された．フェリチンH鎖のFTH1の変異による鉄過剰は，1家系の3人が確認されている．多くは常染色体性劣性遺伝であるが，フェロポルチン病とフェリチン異常症は優性である．無セルロプラスミン血症は日本発の特異な鉄過剰症であり補足した．

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