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CEN Case Reports

, Volume 6, Issue 2, pp 189–193 | Cite as

A case of mild phenotype Alport syndrome caused by COL4A3 mutations

  • Masafumi Kamijo
  • Mineaki KitamuraEmail author
  • Kumiko Muta
  • Tadashi Uramatsu
  • Yoko Obata
  • Kandai Nozu
  • Hiroshi Kaito
  • Kazumoto Iijima
  • Hiroshi Mukae
  • Tomoya Nishino
Case report

Abstract

In a case of 41-year-old man with mild nephropathy, Alport syndrome (AS) was diagnosed from the renal biopsy. However, the α5 chain of type IV collagen expressed in the glomerular basement membrane, which was the atypical staining pattern of AS. Genetic testing suggested autosomal recessive AS from heterozygous mutations at two positions in the type IV collagen α3 chain. These two gene mutations represented a new pattern of mutation and was suggested the association with an atypical α5 chain expression and mild phenotype.

Keywords

Alport syndrome The type IV collagen α3 chain (COLA4A3) 

Notes

Compliance with ethical standards

Conflict of interest

There is no conflict interest.

Research involving human participants informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Japanese Society of Nephrology 2017

Authors and Affiliations

  • Masafumi Kamijo
    • 1
  • Mineaki Kitamura
    • 1
    Email author
  • Kumiko Muta
    • 1
  • Tadashi Uramatsu
    • 1
  • Yoko Obata
    • 1
  • Kandai Nozu
    • 2
  • Hiroshi Kaito
    • 2
  • Kazumoto Iijima
    • 2
  • Hiroshi Mukae
    • 3
  • Tomoya Nishino
    • 1
  1. 1.Department of NephrologyNagasaki University HospitalNagasakiJapan
  2. 2.Department of PediatricsKobe University Graduate School of MedicineKobeJapan
  3. 3.Department of Respiratory MedicineNagasaki University HospitalNagasakiJapan

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