How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants？Discussion and suggestions from nephrologists
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DOI[10.1007/s10157-020-01880-1]to the data of the same series
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- Material Type
- 記事
- Author/Editor
- Aya ImafukuKandai NozuNaoki Sawa
- Publication, Distribution, etc.
- Publication Date
- 2020-03-30
- Publication Date (W3CDTF)
- 2020-03-30
- Periodical title
- Clinical and experimental nephrology : official publication of the Japanese Society of Nephrology
- No. or year of volume/issue
- 24(8)
- Volume
- 24(8)
- ISSN (Periodical Title)
- 1437-7799
- ISSN-L (Periodical Title)
- 1437-7799
- Text Language Code
- eng
- DOI
- 10.1007/s10157-020-01880-1
- Persistent ID (NDL)
- info:ndljp/pid/11659256
- Collection
- Collection (Materials For Handicapped People:1)
- Collection (particular)
- 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
- Acquisition Basis
- オンライン資料収集制度
- Date Accepted (W3CDTF)
- 2021-04-07T03:01:22+09:00
- Date Captured (W3CDTF)
- 2021-03-11
- Format (IMT)
- application/pdf
- Access Restrictions
- 国立国会図書館内限定公開
- Service for the Digitized Contents Transmission Service
- 図書館・個人送信対象外
- Availability of remote photoduplication service
- 可
- Periodical Title (URI)
- Periodical Title (Persistent ID (NDL))
- info:ndljp/pid/11659255
- Data Provider (Database)
- 国立国会図書館 : 国立国会図書館デジタルコレクション
- Summary, etc.
- 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
- Access Restrictions
- インターネット公開
- Related Material (URI)
- Is Referenced By
- Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndromeVI．CKDに潜在する遺伝性腎疾患の重要性
- Data Provider (Database)
- 国立情報学研究所 : CiNii Research
- Original Data Provider (Database)
- 学術機関リポジトリデータベース雑誌記事索引データベースCrossrefCiNii ArticlesCrossrefCrossref
- Bibliographic ID (NDL)
- 11659256
- NAID
- 120006891160