• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

心面脂综合征伴 KRAS 基因突变致乳糜性心包积液

Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.

机构信息

Department of Cardiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

Department of Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

出版信息

Am J Med Genet A. 2020 Mar;182(3):532-535. doi: 10.1002/ajmg.a.61448. Epub 2020 Jan 11.

DOI:10.1002/ajmg.a.61448
PMID:31926049
Abstract

A 12-year-old female patient with cardiofaciocutaneous syndrome in the presence of a KRAS gene mutation had episodes of pericardial effusion on ultrasound, later confirmed to be chylopericardium, which resolved after a lymphangiography. We discussed herein the pathophysiological background of this rare case and the efficacy of lymphangiography in the treatment of chylopericardium.

摘要

一名 12 岁女性患者患有心面皮肤综合征，存在 KRAS 基因突变，超声检查显示有心包积液，后经证实为乳糜性心包积液，淋巴管造影后积液消退。本文讨论了这例罕见病例的病理生理学背景以及淋巴管造影治疗乳糜性心包积液的疗效。

相似文献

1
Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.心面脂综合征伴 KRAS 基因突变致乳糜性心包积液
Am J Med Genet A. 2020 Mar;182(3):532-535. doi: 10.1002/ajmg.a.61448. Epub 2020 Jan 11.
2
Unusual hair findings in a child with cardiofaciocutaneous syndrome.一名患有心面皮肤综合征儿童的异常毛发表现。
Int J Dermatol. 2019 Mar;58(3):354-356. doi: 10.1111/ijd.14087. Epub 2018 Aug 10.
3
LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.淋巴发育异常与KRAS突变：一例病例报告及文献综述
Lymphology. 2015 Sep;48(3):121-7.
4
[Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].[心脏颜面皮肤综合征，一种与努南综合征相关的疾病：11例患者的临床和分子学发现]
Med Clin (Barc). 2015 Jan 20;144(2):67-72. doi: 10.1016/j.medcli.2014.06.009. Epub 2014 Sep 4.
5
Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.具有独特BRAF突变的心面皮肤综合征的胎儿尸检结果
Pediatr Dev Pathol. 2014 Jan-Feb;17(1):59-63. doi: 10.2350/13-08-1365-CR.1. Epub 2013 Dec 4.
6
A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?一对因BRAF突变继发心脏颜面皮肤综合征（CFC）的同胞兄妹，其父母未受影响——这是CFC中首例生殖腺嵌合现象吗？
Am J Med Genet A. 2018 Jul;176(7):1637-1640. doi: 10.1002/ajmg.a.38725. Epub 2018 Apr 28.
7
Cardiofaciocutaneous syndrome and the dermatologist's contribution to diagnosis.心脏颜面皮肤综合征与皮肤科医生对诊断的贡献。
Cutis. 2017 Jan;99(1):E4-E7.
8
Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.阿根廷努南综合征及其他RAS病患儿的临床与分子特征
Arch Argent Pediatr. 2019 Oct 1;117(5):330-337. doi: 10.5546/aap.2019.eng.330.
9
Clinical Report: Cognitive decline in a patient with Cardiofaciocutaneous syndrome.临床报告：一名患有心脏颜面皮肤综合征患者的认知功能衰退
Am J Med Genet A. 2016 May;170A(5):1251-6. doi: 10.1002/ajmg.a.37552. Epub 2016 Feb 3.
10
Clinical and molecular analysis of RASopathies in a group of Turkish patients.一组土耳其患者中 RAS opathy 的临床和分子分析。
Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.

引用本文的文献

1
A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant [Letter].一例伴有MAP2K1致病变异的心脏颜面皮肤综合征病例报告[信函]
Pharmgenomics Pers Med. 2023 Oct 25;16:911-912. doi: 10.2147/PGPM.S442628. eCollection 2023.
2
Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.由镶嵌型、激活型 KRAS 变异引起的淋巴系统疾病对 MEK 抑制有反应。
JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888.
3
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.
努南综合征谱系障碍中的淋巴系统异常：一项系统综述。
Mol Syndromol. 2022 Feb;13(1):1-11. doi: 10.1159/000517605. Epub 2021 Sep 10.