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J-GLOBAL ID：201902281646763882   整理番号：19A0799749

成人における慢性腎臓病の単一遺伝子原因【JST・京大機械翻訳】

Monogenic causes of chronic kidney disease in adults

著者 (51件)： Connaughton Dervla M. (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Connaughton Dervla M. (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Connaughton Dervla M. (Trinity Health Kidney Centre, Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland) ,  Kennedy Claire (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Shril Shirlee (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Mann Nina (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Murray Susan L. (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Williams Patrick A. (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Williams Patrick A. (Royal College of Surgeons in Ireland, Dublin, Ireland) ,  Conlon Eoin (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Conlon Eoin (Royal College of Surgeons in Ireland, Dublin, Ireland) ,  Nakayama Makiko (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  van der Ven Amelie T. (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Ityel Hadas (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Kause Franziska (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Kolvenbach Caroline M. (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Dai Rufeng (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Vivante Asaf (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Vivante Asaf (Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel) ,  Braun Daniela A. (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Schneider Ronen (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Kitzler Thomas M. (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA) ,  Moloney Brona (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Moran Conor P. (Department of Nephrology, Belfast-Ulster Hospital, Belfast, Northern Ireland) ,  Smyth John S. (Department of Nephrology, Belfast-Ulster Hospital, Belfast, Northern Ireland) ,  Kennedy Alan (Trinity Health Kidney Centre, Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland) ,  Benson Katherine (Royal College of Surgeons in Ireland, Dublin, Ireland) ,  Stapleton Caragh (Royal College of Surgeons in Ireland, Dublin, Ireland) ,  Denton Mark (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Magee Colm (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  O’Seaghdha Conall M. (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Plant William D. (Department of Renal Medicine, Cork University Hospital and University College Cork, Cork, Ireland) ,  Griffin Matthew D. (Department of Nephrology, Galway University Hospital and School of Medicine, National University of Ireland, Galway, Ireland) ,  Awan Atif (National Paediatric Haemodialysis Centre and Renal Transplant Unit, Temple Street Children’s University Hospital, Dublin, Ireland) ,  Sweeney Clodagh (National Paediatric Haemodialysis Centre and Renal Transplant Unit, Temple Street Children’s University Hospital, Dublin, Ireland) ,  Mane Shrikant M. (Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA) ,  Lifton Richard P. (Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA) ,  Lifton Richard P. (Rockefeller University, New York, New York, USA) ,  Griffin Brenda (Trinity Health Kidney Centre, Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland) ,  Leavey Sean (Department of Nephrology, University Hospital Waterford, Waterford, Ireland) ,  Casserly Liam (Departments of Nephrology and Internal Medicine, University Hospital Limerick, Limerick, Ireland) ,  de Freitas Declan G. (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Holian John (Department of Nephrology, St. Vincent’s University Hospital, Dublin, Ireland) ,  Dorman Anthony (Royal College of Surgeons in Ireland, Dublin, Ireland) ,  Dorman Anthony (Department of Histopathology, Beaumont Hospital, Dublin, Ireland) ,  Doyle Brendan (Department of Histopathology, Beaumont Hospital, Dublin, Ireland) ,  Lavin Peter J. (Trinity Health Kidney Centre, Trinity College Dublin, Tallaght University Hospital, Dublin, Ireland) ,  Little Mark A. (Trinity Health Kidney Centre, Trinity Translational Medicine Institute, Trinity College Dublin, Dublin, Ireland) ,  Conlon Peter J. (Department of Nephrology & Transplantation, Beaumont Hospital, Dublin, Ireland) ,  Conlon Peter J. (Royal College of Surgeons in Ireland, Dublin, Ireland) ,  Hildebrandt Friedhelm (Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA)
資料名： Kidney International  (Kidney International)
巻： 95  号： 4 S  ページ： 914-928  発行年： 2019年 
JST資料番号： E0559B  ISSN： 0085-2538  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 慢性腎疾患(CKD)の約500の単原性原因が,主に小児集団において同定されている。CKDを有する成人の間の単原性原因の頻度は,より広範囲に研究されていない。アイルランドにおける腎臓学サービスを提示する成人におけるCKDの単遺伝子性原因を検出する可能性を決定するために,著者らは,CKDを有する138の影響を受けた個人を含む114の家族の多施設コホートにおいて,全体のexome配列決定(WES)を実施した。影響を受けた成人は,陽性家族歴を有する78家族,腎外性特徴を有する16家族,家族歴もない20家族,および腎臓外特徴を有する20家族から募集された。著者らは,114家族(37%)の42において既知のCKD遺伝子における病原性突然変異を検出した。単遺伝子性原因は,CKDの陽性家族歴を有する罹患家族の36%,腎外特徴を有するそれらの69%,家族歴または腎外特徴のないそれらのわずか15%において同定された。小児期対成人発症CKDの個人における遺伝子診断率に差はなかった。単遺伝子性原因が同定された42家族のうち,WESは17名(40%)で臨床診断を確認し,9名(22%)で臨床診断を修正し,未知の病因(38%)のCKDを参照した16家族で初めて診断を確立した。CKDを有する成人のこの多施設研究において,分子遺伝学的診断は家族の1/3以上で確立された。精密医療の進化時代において,WESは成人におけるCKDの原因を同定するための重要なツールである可能性がある。Copyright 2019 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 診断 ,  病因 ,  母集団 ,  アイルランド ,  *成人 ,  *慢性腎臓病 ,  突然変異 ,  遺伝子診断 ,  *遺伝 ,  *遺伝子 ,  子供 ,  小児期
準シソーラス用語： 臨床診断 ,  発症 ,  家族歴 , 【Automatic Indexing@JST】

著者キーワード (3件)： 慢性腎臓病 ,  遺伝性腎疾患 ,  全エクソーム配列決定

分類 (2件)： 泌尿生殖器の疾患  (GM03000L) ,  遺伝的変異  (EC01030Y)

タイトルに関連する用語 (4件)： 成人 ,  慢性腎臓病 ,  遺伝子 ,  原因