Indolent renal involvement with BRAF V600E mutation: Erdheim-Chester, a rare disease with a wide spectrum of clinical manifestations.

Autor: Vanhomwegen C; Internal Medicine CHU Erasme Hospital Université Libre de Bruxelles Bruxelles Belgium., Mestrez F; Nephrology Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium., Faverly D; Pathology Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium., Holz S; Urology Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium., Taylor S; Radiology Unit Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium., Rossi C; Infectious Disease Department Ambroise Paré Hospital Université Libre de Bruxelles Bruxelles Belgium.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2021 Aug 24; Vol. 9 (8), pp. e04683. Date of Electronic Publication: 2021 Aug 24 (Print Publication: 2021).
DOI: 10.1002/ccr3.4683
Abstrakt: 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.
Competing Interests: The authors declare no competing financials interests.
(© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE