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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.

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。

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