SCNN1B基因突变引起的1型系统性假性醛固酮增多症1例报告

Q2 Medicine
Kamal Joshi, Prashant Kumar Verma, Manidipa Barman
{"title":"SCNN1B基因突变引起的1型系统性假性醛固酮增多症1例报告","authors":"Kamal Joshi,&nbsp;Prashant Kumar Verma,&nbsp;Manidipa Barman","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in <i>NR3C2 (MLR)</i> gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving <i>SCNN1B</i> gene. Our patient appears to be the first reported case of systemic PHAI due to <i>SCNN1B</i> mutation from India.</p>","PeriodicalId":37192,"journal":{"name":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","volume":"33 3","pages":"268-273"},"PeriodicalIF":0.0000,"publicationDate":"2022-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/25/96/ejifcc-33-268.PMC9644093.pdf","citationCount":"0","resultStr":"{\"title\":\"Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.\",\"authors\":\"Kamal Joshi,&nbsp;Prashant Kumar Verma,&nbsp;Manidipa Barman\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in <i>NR3C2 (MLR)</i> gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving <i>SCNN1B</i> gene. Our patient appears to be the first reported case of systemic PHAI due to <i>SCNN1B</i> mutation from India.</p>\",\"PeriodicalId\":37192,\"journal\":{\"name\":\"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine\",\"volume\":\"33 3\",\"pages\":\"268-273\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-10-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/25/96/ejifcc-33-268.PMC9644093.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/10/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/10/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

假性低醛固酮增多症(PHA)是一种导致新生儿危及生命的高钾血症、低钠血症和代谢性酸中毒的通道病。I型PHA (PHAI)以NR3C2 (MLR)基因或ENaC通道亚基相关基因突变为特征,而II型(A ~ E) PHA则由其他基因突变引起。I型PHA根据涉及的基因和器官进一步分为全身型和肾脏型。系统性PHAI是一种罕见的多系统疾病,表现为新生儿严重的盐消耗。在这篇文章中,我们报告了一例系统性假性低醛固酮增多症1型在2天大的新生儿与一个新的突变涉及SCNN1B基因。我们的患者似乎是印度首例SCNN1B突变引起的全身性PHAI病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

Systemic Pseudohypoaldosteronism Type 1 Due to a Novel Mutation in SCNN1B Gene: A Case Report.

Pseudo hypoaldosteronism (PHA) is a type of channelopathy leading to life-threatening hyperkalemia, hyponatremia and metabolic acidosis in neonates. Type I PHA (PHAI) is characterized by either mutation in NR3C2 (MLR) gene or genes related to subunit of ENaC channel, whereas Type II (A to E) PHA is due to mutations in other genes. Type I PHA is further divided into systemic and renal forms based on the gene and organ involved. Systemic PHAI is a rare, multisystem disease presenting as severe salt wasting in neonates. In this article, we report a case of systemic pseudohypoaldosteronism type 1 in a 2 days old neonate with a novel mutation involving SCNN1B gene. Our patient appears to be the first reported case of systemic PHAI due to SCNN1B mutation from India.

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
CiteScore
2.30
自引率
0.00%
发文量
0
×
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