Renal Pathology of Ciliopathies

IF 1.3 4区 医学 Q3 PATHOLOGY Pediatric and Developmental Pathology Pub Date : 2024-04-15 DOI:10.1177/10935266241242173
Thivya Sekar, Neil J. Sebire
{"title":"Renal Pathology of Ciliopathies","authors":"Thivya Sekar, Neil J. Sebire","doi":"10.1177/10935266241242173","DOIUrl":null,"url":null,"abstract":"Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize the current understanding of the pathophysiological and pathological features of renal ciliopathies in childhood, including autosomal dominant and recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, as well as skeletal dysplasia associated renal ciliopathies. The genetic basis of these disorders is now well-established in many cases, with mutations in a large number of cilia-related genes such as PKD1, PKD2, BBS, MKS, and NPHP being responsible for the majority of cases. Renal ciliopathies are broadly characterized by development of interstitial fibrosis and formation of multiple renal cysts which gradually enlarge and replace normal renal tissue, with each condition demonstrating subtle differences in the degree, location, and age-related development of cysts and fibrosis. Presentation varies from prenatal diagnosis of congenital multisystem syndromes to an asymptomatic childhood with development of complications in later adulthood and therefore clinicopathological correlation is important, including increasing use of targeted genetic testing or whole genome sequencing, allowing greater understanding of genetic pathophysiological mechanisms.","PeriodicalId":54634,"journal":{"name":"Pediatric and Developmental Pathology","volume":"23 1","pages":""},"PeriodicalIF":1.3000,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric and Developmental Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/10935266241242173","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize the current understanding of the pathophysiological and pathological features of renal ciliopathies in childhood, including autosomal dominant and recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, as well as skeletal dysplasia associated renal ciliopathies. The genetic basis of these disorders is now well-established in many cases, with mutations in a large number of cilia-related genes such as PKD1, PKD2, BBS, MKS, and NPHP being responsible for the majority of cases. Renal ciliopathies are broadly characterized by development of interstitial fibrosis and formation of multiple renal cysts which gradually enlarge and replace normal renal tissue, with each condition demonstrating subtle differences in the degree, location, and age-related development of cysts and fibrosis. Presentation varies from prenatal diagnosis of congenital multisystem syndromes to an asymptomatic childhood with development of complications in later adulthood and therefore clinicopathological correlation is important, including increasing use of targeted genetic testing or whole genome sequencing, allowing greater understanding of genetic pathophysiological mechanisms.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
纤毛虫病的肾脏病理学
肾纤毛疾病是一组影响肾脏及其他器官原发性纤毛功能的遗传疾病。由于原发性纤毛对细胞信号通路的调节非常重要,纤毛功能障碍会导致一系列临床表现,包括肾功能衰竭、囊肿形成和高血压。我们总结了目前对儿童肾脏纤毛疾病的病理生理和病理特征的认识,包括常染色体显性和隐性多囊肾、肾炎和巴尔德-比德综合征,以及骨骼发育不良相关的肾脏纤毛疾病。这些疾病的遗传基础现已在许多病例中得到证实,PKD1、PKD2、BBS、MKS 和 NPHP 等大量纤毛相关基因的突变是导致大多数病例的原因。肾纤毛疾病的主要特征是肾间质纤维化和多发性肾囊肿的形成,囊肿逐渐增大并取代正常的肾组织,每种疾病在囊肿和纤维化的程度、位置以及与年龄相关的发展方面都有细微差别。临床表现各不相同,既有产前诊断为先天性多系统综合征,也有儿童期无症状,成年后才出现并发症,因此临床病理相关性非常重要,包括越来越多地使用靶向基因检测或全基因组测序,以便更好地了解遗传病理生理机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
期刊最新文献
A Rare Case of an Infant With TFE3 Mutation Presenting With Direct Hyperbilirubinemia and Hepatomegaly. Whole Slide Imaging, Artificial Intelligence, and Machine Learning in Pediatric and Perinatal Pathology: Current Status and Future Directions. Occurrence of Eosinophilic Granulocytes in the Decidua of Placentas With Perinatal Clinical Findings. CD163 Expression in Chronic Intervillositis of Unknown Etiology and SARS-CoV-2 Placentitis. Cord Hemangioma Versus Angiomyxoma: How Many Angels Can Dance on the Head of a Pin?
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1