medicina58巻10号

2021年09月発行

特集 腎疾患—エキスパートへの質問で学ぶ診療のキホンと最新情報 遺伝性腎疾患

ミトコンドリア腎症とは？ その診断と治療について教えてください

著者： 今澤俊之¹²

所属機関： ¹国立病院機構千葉東病院腎臓内科 ²国立病院機構千葉東病院臨床研究部腎ミトコンドリア研究室

ページ範囲：P.1655 - P.1659

Point
◎ミトコンドリア腎症は，核DNAもしくはミトコンドリアDNA変異による遺伝性疾患である．
◎腎病理でのミトコンドリアの質的・数的異常が診断のきっかけとなる．
◎診断のための補助的方法はあるものの，最終診断には遺伝学的検査を行うことが望まれる．
◎遺伝子診断に基づいた効果的治療が可能となりつつある．

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