Indolent renal involvement with BRAFV600E mutation: Erdheim-Chester, a rare disease with a wide spectrum of clinical manifestations

被引：1

作者：

Vanhomwegen, Charlotte ^{[1
]}

Mestrez, Fabienne ^{[2
]}

Faverly, Daniel ^{[3
]}

Holz, Serge ^{[4
]}

Taylor, Stephen ^{[5
]}

Rossi, Camelia ^{[6
]}

机构：

[1] Univ Libre Bruxelles, CHU Erasme Hosp, Internal Med, Brussels, Belgium

[2] Univ Libre Bruxelles, Nephrol Dept, Ambroise Pare Hosp, Brussels, Belgium

[3] Univ Libre Bruxelles, Pathol Dept, Ambroise Pare Hosp, Brussels, Belgium

[4] Univ Libre Bruxelles, Urol Dept, Ambroise Pare Hosp, Brussels, Belgium

[5] Univ Libre Bruxelles, Radiol Unit, Ambroise Pare Hosp, Brussels, Belgium

[6] Univ Libre Bruxelles, Infect Dis Dept, Ambroise Pare Hosp, Brussels, Belgium

来源：

CLINICAL CASE REPORTS | 2021年 / 9卷 / 08期

关键词：

BRAF(V600E); Erdheim-Chester disease; histiocytosis; retroperitoneum; review; MANAGEMENT; DIAGNOSIS;

D O I：

10.1002/ccr3.4683

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We present the case of a patient with three-year indolent bilateral ureteral and perirenal masses. Clinical presentation, radiological context, and histopathological findings with detection of BRAF(V600E) mutation confirmed the diagnosis of Erdheim-Chester disease (ECD). A review of current knowledge regarding diagnosis, clinical assessment, management, and treatment of ECD is also presented.

引用

页数：6

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