A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

Yoshifusa Abe; Masayuki Iyoda; Kandai Nozu; Satoshi Hibino; Kei Hihara; Yutaka Yamaguchi; Tomohiko Yamamura; Shogo Minamikawa; Kazumoto Iijima; Takanori Shibata; Kazuo Itabashi

doi:10.2169/internalmedicine.55.6873

CASE REPORTS

A Novel Mutation in a Japanese Family with X-linked Alport Syndrome

Yoshifusa Abe, Masayuki Iyoda, Kandai Nozu, Satoshi Hibino, Kei Hihara, Yutaka Yamaguchi, Tomohiko Yamamura, Shogo Minamikawa, Kazumoto Iijima, Takanori Shibata, Kazuo Itabashi

Author information

Yoshifusa Abe
Department of Pediatrics, Showa University School of Medicine, Japan
Masayuki Iyoda
Division of Nephrology, Department of Medicine, Showa University School of Medicine, Japan
Kandai Nozu
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Satoshi Hibino
Department of Pediatrics, Showa University School of Medicine, Japan
Kei Hihara
Division of Nephrology, Department of Medicine, Showa University School of Medicine, Japan
Yutaka Yamaguchi
Yamaguchi's Pathology Laboratory, Japan
Tomohiko Yamamura
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Shogo Minamikawa
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Kazumoto Iijima
Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
Takanori Shibata
Division of Nephrology, Department of Medicine, Showa University School of Medicine, Japan
Kazuo Itabashi
Department of Pediatrics, Showa University School of Medicine, Japan

Keywords: Alport syndrome, X-linked, COL4A5 mutation, woman

JOURNAL OPEN ACCESS

2016 Volume 55 Issue 19 Pages 2843-2847

DOI https://doi.org/10.2169/internalmedicine.55.6873

Details

Abstract

We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important.

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