Item type |
デフォルトアイテムタイプ(フル)(1) |
公開日 |
2020-10-13 |
タイトル |
|
|
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 |
|
言語 |
en |
作成者 |
Imafuku, Aya
Nozu, Kandai
Sawa, Naoki
Nakanishi, Koichi
Ubara, Yoshifumi
|
アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Thin basement membrane nephropathy |
主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Autosomal dominant Alport syndrome |
主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Heterozygous COL4A3 or COL4A4 variant |
内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
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. |
内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
論文 |
出版者 |
|
|
言語 |
en |
|
出版者 |
Springer |
言語 |
|
|
言語 |
eng |
資源タイプ |
|
|
資源タイプ |
journal article |
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
識別子 |
|
|
識別子 |
http://hdl.handle.net/20.500.12000/46978 |
|
識別子タイプ |
HDL |
関連情報 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1007/s10157-020-01880-1 |
関連情報 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1007/s10157-020-01880-1 |
収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1342-1751 |
収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1437-7799 |
収録物名 |
|
|
言語 |
en |
|
収録物名 |
Clinical and Experimental Nephrology |
書誌情報 |
巻 24,
号 8,
p. 651-656,
発行日 2020-03-30
|