一例由 NPHS1 基因变异的新型复合杂合子配对引起的先天性肾病综合征新月体病例

Case Reports in Nephrology Pub Date : 2024-02-27 eCollection Date: 2024-01-01 DOI:10.1155/2024/5121375
Kyle N Goodman, Pongpratch Puapatanakul, Kevin T Barton, Mai He, Jeffrey H Miner, Joseph P Gaut
{"title":"一例由 NPHS1 基因变异的新型复合杂合子配对引起的先天性肾病综合征新月体病例","authors":"Kyle N Goodman, Pongpratch Puapatanakul, Kevin T Barton, Mai He, Jeffrey H Miner, Joseph P Gaut","doi":"10.1155/2024/5121375","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in <i>NPHS1</i> including a known pathogenic variant and a missense variant of uncertain significance. Light microscopy revealed crescent formation-an atypical finding in congenital nephrotic syndrome caused by nephrin variants-in addition to focal segmental and global glomerulosclerosis. Electron microscopy showed diffuse podocyte foot process effacement. Confocal and Airyscan immunofluorescence microcopy showed aggregation of nephrin in the podocyte cell body that is not a result of diffuse podocyte foot process effacement as seen in minimal change disease. These findings confirm the novel variant as pathogenic.</p>","PeriodicalId":9604,"journal":{"name":"Case Reports in Nephrology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10914425/pdf/","citationCount":"0","resultStr":"{\"title\":\"A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of <i>NPHS1</i> Genetic Variants.\",\"authors\":\"Kyle N Goodman, Pongpratch Puapatanakul, Kevin T Barton, Mai He, Jeffrey H Miner, Joseph P Gaut\",\"doi\":\"10.1155/2024/5121375\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in <i>NPHS1</i> including a known pathogenic variant and a missense variant of uncertain significance. Light microscopy revealed crescent formation-an atypical finding in congenital nephrotic syndrome caused by nephrin variants-in addition to focal segmental and global glomerulosclerosis. Electron microscopy showed diffuse podocyte foot process effacement. Confocal and Airyscan immunofluorescence microcopy showed aggregation of nephrin in the podocyte cell body that is not a result of diffuse podocyte foot process effacement as seen in minimal change disease. These findings confirm the novel variant as pathogenic.</p>\",\"PeriodicalId\":9604,\"journal\":{\"name\":\"Case Reports in Nephrology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-02-27\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10914425/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Nephrology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2024/5121375\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Nephrology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/5121375","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

先天性肾病综合征是一种常染色体隐性遗传疾病,表现为出生后三个月内出现类固醇抵抗性大量蛋白尿。肾小球滤过机制缺陷是主要病因。我们为大家介绍的这名患儿在两周大时患上了严重的肾病综合征,最终需要进行双侧肾切除术。基因检测发现了 NPHS1 的复合杂合变异,包括一个已知的致病变异和一个意义不明的错义变异。光镜检查发现新月体形成--这是由肾素变异引起的先天性肾病综合征的非典型发现,此外还有局灶性节段性和全局性肾小球硬化。电子显微镜检查显示,荚膜足突弥漫性脱落。共焦和Airyscan免疫荧光显微镜检查显示,荚膜细胞体中的肾素聚集,但这并不是极小变化病中出现的弥漫性荚膜脚突起脱落的结果。这些发现证实了该新型变异体具有致病性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants.

Congenital nephrotic syndrome is an autosomal recessive inherited disorder that manifests as steroid-resistant massive proteinuria in the first three months of life. Defects in the glomerular filtration mechanism are the primary etiology. We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in NPHS1 including a known pathogenic variant and a missense variant of uncertain significance. Light microscopy revealed crescent formation-an atypical finding in congenital nephrotic syndrome caused by nephrin variants-in addition to focal segmental and global glomerulosclerosis. Electron microscopy showed diffuse podocyte foot process effacement. Confocal and Airyscan immunofluorescence microcopy showed aggregation of nephrin in the podocyte cell body that is not a result of diffuse podocyte foot process effacement as seen in minimal change disease. These findings confirm the novel variant as pathogenic.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Case Reports in Nephrology
Case Reports in Nephrology Medicine-Nephrology
CiteScore
1.70
自引率
0.00%
发文量
32
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信