Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy

Abstract

Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant systemic microvascular disease. Neurological disorders and visual disturbance are highlighted as manifestations of RVCL; however, there are few reports focused on nephropathy. Herein, we describe detailed renal histopathological findings in a daughter and father with RVCL, proven by TREX1 genetic analysis. A kidney biopsy of the daughter, 35-year-old with asymptomatic proteinuria, revealed unique and various glomerular changes. Atypical double contour (not tram track-like) of the capillary wall was widely found, an apparent characteristic finding. Glomerular findings were varied due to a combination of new and old segmental mesangial proliferative changes, mesangiolysis, and segmental glomerulosclerosis-like lesions; these changes may be related to endothelial cell damage. Collapsed tufts were also found and thought to be the result of ischemia due to arterial changes. Glomerular findings in a kidney biopsy of the father revealed similarity to the daughter's glomerulus at a relatively advanced stage, but the degree of variety in the glomerular findings was much less. Kidney biopsy findings suggesting endothelial cell damage of unknown etiology need to be considered for possible RVCL.

Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease

“…Patients with RVCL‐S had abnormal increased circulating levels of the markers of endothelial function angiopoietin‐2 and Von Willebrand Factor antigen and propeptide . Neuropathological studies revealed fibrinoid vascular necrosis or thickened hyalinized vessels, and multilaminated basement membranes on ultrastructural images of both the brain and internal organs, suggesting endothelial cell damage . Altogether, this seems to suggest that RVCL‐S is a systemic endotheliopathy.…”