Year: 2026
Type: article
Abstract: Erdheim-Chester disease (ECD) is a rare histiocytosis driven by somatic mutations involving genes of the MAPK pathway (e.g., BRAFV600E).1 Bilateral perirenal and retroperitoneal involvement occurs in approximately 70% of cases and typically consists of infiltration of the perirenal space (“hairy kidney” appearance), the pelvis, the proximal ureter, and the renal vascular peduncle2 (Figure 1a–f). It is often asymptomatic but may cause abdominal or lumbar pain and renovascular hypertension. Unrecognized long-standing perirenal infiltration can lead to obstructive or ischemic nephropathy, ultimately causing chronic kidney disease and, in some cases, kidney failure.
Source: Kidney International Reports
Institutions: Meyer Children's Hospital, University of Florence, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Hôpital Ambroise-Paré, Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie, Loyola University Medical Center, Vita-Salute San Raffaele University, IRCCS Ospedale San Raffaele, IRCCS San Raffaele Roma, Istituto Giannina Gaslini, Normandie Université, Centre Hospitalier Universitaire de Caen Normandie, Université de Caen Normandie, Sorbonne Université, Pitié-Salpêtrière Hospital, Inserm, Centre d'Immunologie et des Maladies Infectieuses
Language: English
Subfield: Transplantation
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,800
Funder: Ministero della Salute
OpenAlex ID: W7118036825