| Item type |
デフォルトアイテムタイプ（フル）(1) |
| 公開日 |
2024-12-25 |
| タイトル |
|
|
タイトル |
Familial focal segmental glomerulosclerosis with Alport-like glomerular basement changes caused by paired box protein 2 gene variant |
|
言語 |
en |
| 作成者 |
山田,祐子
Yokoyama,Hiroki
Kinoshita,Ryo
Kitamoto,Koichi
Kawaba,Yasuo
研究者総覧鳥取大学
0
e-Rad_Researcher
0
| ja |
Kawaba,Yasuo
|
| en |
Kawaba,Yasuo
|
| ja-Kana |
カワバ,ヤスオ
|
Search repository
岡田,晋一
Horie,Takashi
Nagano,China
Nozu,Kandai
難波,範行
|
| 主題 |
|
|
主題 |
PAX2(en), Focal segmental glomerulosclerosis(en), Glomerular basement membrane(en), Alport-like(en) |
| 内容記述 |
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|
内容記述タイプ |
Other |
|
内容記述 |
Paired box protein 2 (PAX2) gene variant causes renal coloboma syndrome (MIM#120330). Further, they are associated with focal segmental glomerulosclerosis and characterized by basement membrane changes similar to Alport syndrome.Herein, we report an 8-year-old boy who presented with proteinuria and decreased renal function. His paternal uncle has focal segmental glomerulosclerosis and renal failure, and his paternal grandmother has renal failure and is receiving peritoneal dialysis. Further, his father has stage 2 chronic kidney disease. At 3 years of age, his serum creatinine-estimated glomerular filtration rate was 40-50 mL/min/1.73 m<sup>2</sup>. At 8 years of age, his renal function further decreased and he had proteinuria (urinary protein/Cr 3.39 g/g Cr). Renal histopathology showed oligonephronia and focal segmental glomerulosclerosis. A partial basket-weave pattern, similar to Alport syndrome, was also observed on a transmission electron microscope, and low-vacuum scanning electron microscopy revealed coarse meshwork changes in the glomerular basement membrane. Genetic analysis revealed a PAX2 heterozygous variant (NM_003987.4:c.959C > G), a nonsense variant in which the serine at position 320 changes to a stop codon, in our patient and his father. PAX2 is a transcription factor that is important for the podocyte variant. However, podocytes with PAX2 gene variants may cause abnormal basement membrane production and repair, thereby resulting in Alport-like changes. |
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言語 |
en |
| 出版者 |
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|
出版者 |
Springer Nature |
|
言語 |
en |
| 日付 |
|
|
日付 |
2023-10-28 |
|
日付タイプ |
Issued |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ |
journal article |
| 出版タイプ |
|
|
出版タイプ |
VoR |
| 関連情報 |
|
|
関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
DOI |
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|
関連識別子 |
https://doi.org/10.1007/s13730-023-00830-6 |
| 収録物識別子 |
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|
収録物識別子タイプ |
EISSN |
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収録物識別子 |
21924449 |
| 収録物名 |
|
|
収録物名 |
CEN case reports |
|
言語 |
en |
| 巻 |
|
|
巻 |
13 |
| 開始ページ |
|
|
開始ページ |
204 |
| 終了ページ |
|
|
終了ページ |
208 |
| 書誌情報 |
en : CEN case reports
巻 13,
p. 204-208,
発行日 2023-10-28
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| アクセス権 |
|
|
アクセス権 |
open access |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
(C) The Author(s) 2023. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. |
cencr13(3)_204.pdf (1.2 MB)
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