How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants？Discussion and suggestions from nephrologists

• 資料種別: 記事
• タイトル: How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants？Discussion and suggestions from nephrologists
• 著者・編者: Aya Imafuku; Kandai Nozu; Naoki Sawa
• 出版事項: 日本 : Springer Nature
• 出版年月日等: 2020-03-30
• 出版年（W3CDTF）: 2020-03-30
• タイトル（掲載誌）: Clinical and experimental nephrology : official publication of the Japanese Society of Nephrology
• 巻号年月日等（掲載誌）: 24(8)
• 掲載巻: 24(8)
• ISSN（掲載誌）: 1437-7799
• ISSN-L（掲載誌）: 1437-7799
• 本文の言語コード: eng
• DOI: 10.1007/s10157-020-01880-1; https://doi.org/10.1007/s10157-020-01880-1
• 国立国会図書館永続的識別子: info:ndljp/pid/11659256; https://dl.ndl.go.jp/pid/11659256
• コレクション（共通）: 障害者向け資料
• コレクション（障害者向け資料：レベル1）: テキストデータ
• コレクション（個別）: 国立国会図書館デジタルコレクション > 電子書籍・電子雑誌 > その他; https://dl.ndl.go.jp/collections/B00035
• 収集根拠: オンライン資料収集制度
• 受理日（W3CDTF）: 2021-04-07T03:01:22+09:00
• 保存日（W3CDTF）: 2021-03-11
• 記録形式（IMT）: application/pdf
• オンライン閲覧公開範囲: 国立国会図書館内限定公開
• デジタル化資料送信: 図書館・個人送信対象外
• 遠隔複写可否（NDL）: 可
• 掲載誌（URI）: https://link.springer.com/article/10.1007/s10157-020-01880-1
• 掲載誌（国立国会図書館永続的識別子）: info:ndljp/pid/11659255; https://dl.ndl.go.jp/pid/11659255
• 連携機関・データベース: 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

• 要約等: Both thin basement membrane nephropathy (TBMN) and autosomal dominant Alport syndrome (ADAS) are types of hereditary nephritis resulting from heterozygous mutations in COL4A3 or COL4A4 genes. Although TBMN is characterized by hematuria and thinning of the glomerular basement membrane (GBM) with excellent renal prognosis, some patients develop end-stage renal disease (ESRD) later in life. In contrast, although AS is characterized by progressive nephropathy with lamellation of the GBM, there are some patients diagnosed with ADAS from a family history of ESRD but who only suffer from hematuria with GBM thinning. These findings indicate a limitation in distinction between TBMN and ADAS. Diagnosis of AS is significant because it facilitates careful follow-up and early treatment, whereas diagnosis of TBMN can underestimate the risk of ESRD. However, some experts are against using the term ADAS as the phenotypes of heterozygous variants vary from no urinary abnormality to ESRD, even between family members with the same mutations, indicating that unknown secondary factors may play a large role in the disease severity. These diagnostic difficulties result in significant confusion in clinical settings. Moreover, recent studies revealed that the number of patients with chronic kidney disease caused by these gene mutations is far higher than previously thought. The aim of this article is to review differing opinions regarding the diagnosis of heterozygous COL4A3 or COL4A4 variants, and to highlight the importance for nephrologists to recognize this disease, and the importance of the need to reclassify this disease to minimize the current confusion.; 論文
• DOI: 10.1007/s10157-020-01880-1; https://doi.org/10.1007/s10157-020-01880-1
• オンライン閲覧公開範囲: インターネット公開
• 関連情報（URI）: http://hdl.handle.net/20.500.12000/46978; https://u-ryukyu.repo.nii.ac.jp/records/2011146; http://id.ndl.go.jp/digimeta/11659256; https://dl.ndl.go.jp/pid/11659256; http://link.springer.com/content/pdf/10.1007/s10157-020-01880-1.pdf; http://link.springer.com/article/10.1007/s10157-020-01880-1/fulltext.html; https://search.jamas.or.jp/link/ui/2021198939
• 参照: Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome; https://cir.nii.ac.jp/crid/1050856995321972736; VI．CKDに潜在する遺伝性腎疾患の重要性; https://cir.nii.ac.jp/crid/1390863041926474112
• 連携機関・データベース: 国立情報学研究所 : CiNii Research; https://cir.nii.ac.jp/
• 提供元機関・データベース: 学術機関リポジトリデータベース; https://irdb.nii.ac.jp; 雑誌記事索引データベース; https://ndlsearch.ndl.go.jp; Crossref; https://www.crossref.org; CiNii Articles
• 書誌ID（NDLBibID）: 11659256; http://id.ndl.go.jp/bib/11659256
• NII論文ID: 120006891160