Alport syndrome-like basement membrane changes in Frasier syndrome: An electron microscopy study

Shu ichi Ito, Hiroshi Hataya, Masahiro Ikeda, Ayako Takata, Haruhito Kikuchi, Jun ichi Hata, Yukihiko Morikawa, Sadao Kawamura, Masataka Honda

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11 Citations (Scopus)

Abstract

Frasier syndrome (FS) is a rare disease characterized by male pseudohermaphroditism and slowly progressing nephropathy. FS originates from heterozygous mutation in the intron 9 splicing donor site of Wilms' tumor suppressor gene (WT1). Focal segmental glomerular sclerosis is common in FS, but there have not been so many detailed pathologic investigations. The authors examined the kidneys of 3 patients with FS. The results showed that nephropathy started as mesangial proliferative glomerulonephritis, and later a concomitant focal segmental lesion developed. In all cases, electron microscopy results showed widespread thinning, splitting, and lamellation of the glomerular basement membrane, which mimicked hereditary nephritis. Throughout adulthood, WT1 protein expresses on glomerular podocytes. Recent reports described that podocytes expressing WT1 play an important role in maintaining the glomerular basement membrane. Hereditary nephritis-like glomerular basement membrane findings in FS suggest that one of the important functions of podocytes is to form and maintain the glomerular basement membrane.

Original languageEnglish
Pages (from-to)1110-1115
Number of pages6
JournalAmerican Journal of Kidney Diseases
Volume41
Issue number5
DOIs
Publication statusPublished - 2003 May 1
Externally publishedYes

Keywords

  • Alport syndrome
  • Basement membrane
  • Electron microscopy
  • Frasier syndrome
  • Splitting
  • Thinning
  • Wilms' tumor suppressor gene (WT1)

ASJC Scopus subject areas

  • Nephrology

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    Ito, S. I., Hataya, H., Ikeda, M., Takata, A., Kikuchi, H., Hata, J. I., Morikawa, Y., Kawamura, S., & Honda, M. (2003). Alport syndrome-like basement membrane changes in Frasier syndrome: An electron microscopy study. American Journal of Kidney Diseases, 41(5), 1110-1115. https://doi.org/10.1016/S0272-6386(03)00209-9