耳鼻咽喉科・頭頸部外科88巻3号

2016年03月発行

特集 新しい指定難病制度を理解する

≪耳鼻咽喉科領域の指定難病≫

若年発症型両側性感音難聴

著者： 西尾信哉¹ 宇佐美真一¹

所属機関： ¹信州大学医学部耳鼻咽喉科

ページ範囲：P.224 - P.232

文献概要

POINT

●若年発症型両側性感音難聴は遅発性かつ若年発症（40歳未満の発症）の両側性感音難聴である。

●遅発性難聴を引き起こす原因遺伝子（ACTG1，CDH23，COCH，KCNQ4，TECTA，TMPRSS3，WFS1）の変異が同定されていることが必要である。

●重症度分類において，高度難聴以上（500，1000，2000Hzの平均値で70dBHL以上）で指定難病の申請ができる。

●補聴器，残存聴力活用型人工内耳，人工内耳の効果が期待できる。

参考文献

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