2024-03-28T12:29:20Z
https://u-ryukyu.repo.nii.ac.jp/oai
oai:u-ryukyu.repo.nii.ac.jp:02011146
2023-08-03T05:29:09Z
1642838163960:1642838338003
1642838403551:1642838407795
How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists
Imafuku, Aya
Nozu, Kandai
Sawa, Naoki
Nakanishi, Koichi
Ubara, Yoshifumi
Thin basement membrane nephropathy
Autosomal dominant Alport syndrome
Heterozygous COL4A3 or COL4A4 variant
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
http://purl.org/coar/resource_type/c_6501
Springer
2020-03-30
VoR
http://hdl.handle.net/20.500.12000/46978
1342-1751
1437-7799
Clinical and Experimental Nephrology
8
24
656
651
eng
https://doi.org/10.1007/s10157-020-01880-1
https://doi.org/10.1007/s10157-020-01880-1
open access