ＳＬＣ２６Ａ４に遺伝子変異を認めた前庭水管拡張症の２例

• 中西 啓

  浜松医科大学耳鼻咽喉科

• 岩崎 聡

  浜松赤十字病院耳鼻咽喉科

• 今井 篤志

  浜松医科大学耳鼻咽喉科

• 林 理佐子

  磐田市立総合病院耳鼻咽喉科

• 水田 邦博

  浜松医科大学耳鼻咽喉科

• 峯田 周幸

  浜松医科大学耳鼻咽喉科

書誌事項

タイトル別名

• Two Cases of Large Vestibular Aqueduct Syndrome with SLC26A4 Mutations
• 臨床 SLC26A4に遺伝子変異を認めた前庭水管拡張症の2例
• リンショウ SLC26A4 ニ イデンシ ヘンイ オ ミトメタ ゼンテイ スイカン カクチョウショウ ノ 2レイ

抄録

Pendred syndrome and nonsyndromic hearing loss with enlarged vestibular aqueduct (NSEVA) are caused by mutations of SLC26A4, which encodes Pendrin. In this report, we present two cases with a bilaterally enlarged vestibular aqueduct detected by high-resolution computed tomography (HRCT), with both showing SLC26A4 mutations.<br> Case 1 was a 56-year-old female with a complaint of bilateral progressive hearing loss. Pure tone audiometric examination revealed bilateral sensorineural hearing loss, and HRCT detected a bilaterally enlarged vestibular aqueduct. Diffuse enlargement of the thyroid was noted on ultrasound examination with a euthyroid state. Mutation analysis of SLC26A4 identified c.2168A>G (p.His723Arg) homozygously.<br> Case 2 was a 9-year-old girl with bilateral hearing loss detected in a school hearing screening test. Audiometric examination showed conductive hearing loss in the right ear and mixed hearing loss in the left ear, with severe hearing loss at low tones, and HRCT identified a bilaterally enlarged aqueduct. Ultrasound examination of the thyroid gland was within the normal range for the size. Her paternal grandmother and father also had bilateral hearing loss, in whom HRCT could not detect an enlarged vestibular aqueduct. Mutation screening revealed that the patient showed c.2168A>G homozygously and her father showed c.2168A>G heterozygously.<br> Clinical evaluation and the results of mutation analysis suggested that case 1 was likely to have typical Pendred syndrome. Case 2 showed mutations of SLC26A4, bilateral hearing loss severe at low tones, and a family history of hearing loss involving her grandmother and father, indicating that the case may differ from those diagnosed with typical NSEVA or Pendred syndrome, and this should be examined closely.<br>

収録刊行物

• 耳鼻咽喉科臨床

  耳鼻咽喉科臨床 102 (9), 713-718, 2009

  耳鼻咽喉科臨床学会

キーワード

• <i>SLC26A4</i>
• Pendred syndrome
• enlarged vestibular aqueduct
• Pendrin
• mutation analysis

詳細情報

• CRID: 1390282679238871552
• NII論文ID: 10025097109
• NII書誌ID: AN00107089
• DOI: 10.5631/jibirin.102.713
• ISSN: 18844545
• ISSN: 00326313
• NDL書誌ID: 10424105
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I10424105
• Web Site: https://search.jamas.or.jp/link/ui/2010027682
• 本文言語コード: ja
• データソース種別:
  • JaLC
  • NDL
  • Crossref
  • CiNii Articles
  • KAKEN
• 抄録ライセンスフラグ: 使用不可