Neurological Surgery 脳神経外科43巻1号

2015年01月発行

総説

小児脳神経外科領域における遺伝子診断—Update

著者： 山崎麻美¹

所属機関： ¹愛仁会高槻病院小児脳神経外科

ページ範囲：P.5 - P.16

Ⅰ．はじめに
　遺伝子医学はその進歩によって，医療全般にわたって広く有効に活用される時代を迎えた．単一遺伝子疾患においては，病態解明から治療法開発研究へ発展している．小児脳神経外科領域で扱う疾患も，その原因遺伝子が同定され，病理診断や放射線学的診断から分子遺伝子学的診断へと進展し，より詳細な疾患分類へ書き換えられつつあるものもある．分子遺伝子学的診断が臨床にもたらす影響の程度から，次のように分けられる．すなわち，①遺伝子診断の意義が臨床的に確立し，疾患の確定診断，保因者診断，出生前診断などに寄与しているもの，あるいは疾患の分類が書き換えられつつあるもの，②疾患の一部に原因遺伝子が同定され，病態解明や疾患分類に新しい知見を呈しているものの，臨床的には遺伝子診断の意義は未確立のもの，③まったく研究段階で臨床的な意義は未確立のもの，である．
　小児脳神経外科領域の疾患で，遺伝子学的研究が進んだ疾患を上記に沿って分類すると，①は頭蓋縫合早期癒合症，X連鎖性劣性遺伝性水頭症，滑脳症など，②は全前脳胞症，孔脳症，③はDandy Walker症候群，脊髄髄膜瘤，もやもや病などである．
　平成22（2010）年度の診療報酬改定では，一部の先天性疾患の遺伝子診断や遺伝カウンセリング料は保険収載され，保険診療として認められるようになったが，小児脳神経外科領域の疾患はまだその中には含まれていない．
　本稿は，2011年1月号の本誌掲載論文（No Shinkei Geka 39:65-77, 2011）をもとに，最新の情報を加筆・修正したものである．

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