Two Enlarged Kidneys: A Manifestation of Erdheim-Chester Disease

André, Marc; Delévaux, I.; Fraissinette, B. de; Ponsonnaille, J; Chalret, N. Costes; Wechsler, B.; Piette, J.C.; Aumaître, O.

doi:10.1159/000046267

Cited by 30 publications

(11 citation statements)

References 4 publications

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“…Abdominal CT scanning reveals "hairy kidneys" (Fig. 3) in approximately half of patients with ECD [12,13]. Because histology biopsy is required for the diagnosis of ECD, ultrasound-guided biopsy of the perirenal infiltration (observed in approximately two thirds of patients) is an approach to be recommended [14].…”

Section: Diagnostic Criteriamentioning

confidence: 99%

Erdheim–Chester Disease

et al. 2014

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Erdheim-Chester disease (ECD) is a rare (approximately 500 known cases worldwide), non-inherited, nonLangerhans form of histiocytosis of unknown origin, first described in 1930. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes, "lipid-laden" macrophages, or histiocytes, surrounded by fibrosis. Diagnosis of ECD involves the analysis of histiocytes in tissue biopsies: these are typically foamy and CD68+ CD1a− in ECD, whereas in Langerhans cell histiocytosis (LCH) they are CD68+ CD1a+. 99 Technetium bone scintigraphy revealing nearly constant tracer uptake by the long bones is highly suggestive of ECD, and a "hairy kidney" appearance on abdominal CT scan is observed in approximately half of ECD cases. Central nervous system involvement is a strong prognostic factor and an independent predictor of death in cases of ECD. Optimum initial therapy for ECD seems to be administration of interferon α (or pegylated interferon α), and prolonged treatment significantly improves survival; however, tolerance may be poor. Cases of ECD present with strong systemic immune activation, involving IFNα, IL-1/IL1-RA, IL-6, IL-12, and MCP-1, consistent with the systemic immune Th-1-oriented disturbance associated with the disease. More than half of ECD patients carry the BRAF V600E mutation, an activating mutation of the protooncogene BRAF. A small number of patients harboring this mutation and with severe multisystemic and refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which was proved very beneficial.

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Section: Diagnostic Criteriamentioning

confidence: 99%

Erdheim–Chester Disease

et al. 2014

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“…Abdominal CT scan revealed 'hairy kidneys' (FIGURE 3) in 69 (57%) of the 122 ECD patients [14,15]. Biopsies are required for the histological diagnosis of ECD, and computed tomography-guided biopsy of the perirenal infiltration (observed in about two-thirds of patients) is recommended approach [16].…”

Section: Introductionmentioning

confidence: 99%

The histiocytosis Erdheim–Chester disease is an inflammatory myeloid neoplasm

Haroche

Cohen‐Aubart

Charlotte

et al. 2015

Expert Review of Clinical Immunology

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Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis, characterized by the infiltration of tissues by foamy CD68(+)CD1a(-) histiocytes. (99)Technetium bone scintigraphy revealing almost constant tracer uptake by the long bones is highly suggestive of ECD, and a 'hairy kidney' appearance on abdominal computed tomography scan is observed in about half of all ECD cases. CNS involvement is a strong prognostic factor and independent predictor of death. IFN-α seems to be the best initial treatment for ECD. More than half of all ECD patients carry the BRAF(V600E) mutation. More than 30 patients worldwide harboring this mutation and displaying multisystemic, refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which has proven highly beneficial. Other recurrent mutations of the MAPK and PIK3 pathways (NRAS, PIK3CA) have recently been described. These mutations should lead to a new classification of histiocytic disorders such that Langerhans cell histiocytosis and ECD are classified as inflammatory myeloid neoplasms.

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“…2) (96% of our 53 patients) [6,7] and a 'hairy kidney' appearance on abdominal computed tomographic (CT) scan ( Fig. 3) (%50% of cases) [8,9]. As a biopsy sample is needed to diagnose ECD, an 'elegant' diagnostic method is ultrasound-guided biopsy of the perirenal infiltration (when it is present, i.e.…”

Section: Diagnostic Criteriamentioning

confidence: 99%