CEN Case Reports

, Volume 7, Issue 1, pp 83–89 | Cite as

Renal histopathological findings of retinal vasculopathy with cerebral leukodystrophy

  • Yutaka Tsubata
  • Takashi Morita
  • Tetsuo Morioka
  • Taiji Sasagawa
  • Kouzo Ikarashi
  • Noriko Saito
  • Hisaki Shimada
  • Shigeru Miyazaki
  • Shinji Sakai
  • Hajime Tanaka
  • Rie Saito
  • Yasuko Toyoshima
  • Hiroaki Nozaki
  • Ichiei Narita
Case Report

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.

Keywords

Retinal vasculopathy with cerebral leukodystrophy RVCL TREX1 Autosomal dominant disease Kidney biopsy 

Notes

Acknowledgements

This study was partially supported by a Grant ‘Initiative on Rare and Undiagnosed Diseases’ (to I.N.) from Japan Agency for Medical Research and Development.

Compliance with ethical standards

Conflict of interest

All the authors have declared no competing interests.

Ethical statement

This article does not contain any studies with human participants performed by any of the authors.

Informed consent

Informed consent was obtained.

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Copyright information

© Japanese Society of Nephrology 2018

Authors and Affiliations

  • Yutaka Tsubata
    • 1
  • Takashi Morita
    • 2
  • Tetsuo Morioka
    • 1
    • 2
  • Taiji Sasagawa
    • 1
  • Kouzo Ikarashi
    • 1
  • Noriko Saito
    • 1
  • Hisaki Shimada
    • 1
  • Shigeru Miyazaki
    • 1
  • Shinji Sakai
    • 1
  • Hajime Tanaka
    • 1
  • Rie Saito
    • 3
  • Yasuko Toyoshima
    • 3
  • Hiroaki Nozaki
    • 4
  • Ichiei Narita
    • 5
  1. 1.Department of Internal MedicineShinrakuen HospitalNiigataJapan
  2. 2.Department of PathologyShinrakuen HospitalNiigataJapan
  3. 3.Department of Pathology and Neurology, Brain Research InstituteNiigata UniversityNiigataJapan
  4. 4.Department of Medical Technology, School of Health Sciences Faculty of MedicineNiigata UniversityNiigataJapan
  5. 5.Divisions of Clinical Nephrology and RheumatologyNiigata University Graduate School of Medical and Dental SciencesNiigataJapan

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