自体主有多囊性腎臓病
Emilie Cornec-Le Gall1, Ahsan Alam2, Ronald D Perrone3
1Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre Hospitalier Universitaire, Brest, France; UMR1078 Génétique, Génomique Fonctionnelle et Biotechnologies, INSERM, Université de Brest, Brest, France; Université de Bretagne Occidentale, Brest, France.
Lancet (London, England)
|March 2, 2019
まとめ
自体主有多囊性腎臓病 (ADPKD) は,腎臓の拡大と腎不全を引き起こす一般的な遺伝疾患です. 遺伝学,イメージング,治療の進歩により ADPKD 患者の診断,予後,病気を修正する治療法が改善されています.
科学分野:
- 腎臓科
- 遺伝学
- 内科 医学
背景:
- 自体主有多囊性腎疾患 (ADPKD) は,最も一般的な遺伝性腎疾患であり,末期性腎疾患の主な原因である.
- ADPKDは,腎臓の拡大,高血圧,肝臓のキスト,頭蓋内動脈瘤,心弁疾患を含む多様な臨床的症状を有する全身疾患である.
研究 の 目的:
- ADPKDの理解と管理の最近の進歩をレビューする.
- 分子遺伝学,先進的なイメージング, 患者ケアにおける新しい治療法の影響を強調します.
主な方法:
- 3期無作為化プラセボ対照試験を含む臨床研究のレビュー
- 分子遺伝学と高度なイメージング技術からのデータの統合.
主要な成果:
- ADPKD患者およびその家族には,診断と予後のための改善されたツールが提供されています.
- 高リスクのADPKD患者に対して 病気を修正する薬が承認され 治療戦略が改善されています
結論:
- 最近の進展は,ADPKDの管理における証拠に基づいた勧告のための強力な基盤を提供します.
- これらの進歩を実装することで 腎不全を遅らせ 症状を軽減し 心血管疾患を改善し 寿命を延ばすことができます
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