レシュ・ニハンの症候群 歯科アプローチ:症例報告
Priscilla Sena Souza Luz Campos1, Luís Cândido Pinto da Silva1, Paulo Franco Taitson1,2
1Department of Pediatric Dentistry, Pontifical Catholic University of Minas Gerais, Belo Horizonte, MG, Brazil.
African health sciences
|August 21, 2025
まとめ
レシュ・ニハン症候群は,HGPRT酵素の欠乏によって引き起こされるX関連疾患で,神経学的問題と自傷を引き起こす. 歯科治療とアロプリノールは 症状の管理と尿酸の減少のための重要な治療法です.
科学分野:
- 遺伝 と 代謝 障害
- 神経学
- 歯科
背景:
- レシュ・ニーハン症候群 (LNS) は,希少なX関連後退性疾患である.
- 酵素ヒポキサンチン・グアニン・フォスフォリボシルトランスフェラーゼ (HGPRT) の欠乏から生じる.
- HGPRT欠乏症は purin代謝を乱し,神経機能障害と高尿血症を引き起こす.
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01:15Teeth
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