Pediatric Nephrology

, Volume 25, Issue 3, pp 545–548

A family with X-linked benign familial hematuria

  • Kazunari Kaneko
  • Sachiyo Tanaka
  • Masafumi Hasui
  • Kandai Nozu
  • Rafal Przybyslaw Krol
  • Kazumoto Iijima
  • Keisuke Sugimoto
  • Tsukasa Takemura
Brief Report

DOI: 10.1007/s00467-009-1370-z

Cite this article as:
Kaneko, K., Tanaka, S., Hasui, M. et al. Pediatr Nephrol (2010) 25: 545. doi:10.1007/s00467-009-1370-z

Abstract

Gene mutations in COL4A5 located on Xq22 are believed to cause X-linked Alport syndrome, whereas mutations in COL4A3 and COL4A4 located on chromosome 2 are associated with autosomal inherited Alport syndrome or benign familial hematuria. A family with benign familial hematuria caused by COL4A5 mutation, implying X-linked transmission, is reported here for the first time. This result suggests that COL4A5 should be added to the list of causative genes for benign familial hematuria, although the mechanism(s) by which the same mutation leads to the distinct phenotypes, i.e. X-linked Alport syndrome or benign familial hematuria, remains unknown.

Keywords

Alport syndrome Benign familial hematuria COL4A5 gene 

Copyright information

© IPNA 2009

Authors and Affiliations

  • Kazunari Kaneko
    • 1
  • Sachiyo Tanaka
    • 1
  • Masafumi Hasui
    • 1
  • Kandai Nozu
    • 2
  • Rafal Przybyslaw Krol
    • 2
  • Kazumoto Iijima
    • 2
  • Keisuke Sugimoto
    • 3
  • Tsukasa Takemura
    • 3
  1. 1.Department of PediatricsKansai Medical UniversityHirakata-shi, OsakaJapan
  2. 2.Department of PediatricsKobe University Graduate School of MedicineKobeJapan
  3. 3.Department of PediatricsKinki University School of MedicineOsakaJapan

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