A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
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- Abe Yoshifusa
- Department of Pediatrics, Showa University School of Medicine, Japan
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- Iyoda Masayuki
- Division of Nephrology, Department of Medicine, Showa University School of Medicine, Japan
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- Nozu Kandai
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Hibino Satoshi
- Department of Pediatrics, Showa University School of Medicine, Japan
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- Hihara Kei
- Division of Nephrology, Department of Medicine, Showa University School of Medicine, Japan
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- Yamaguchi Yutaka
- Yamaguchi's Pathology Laboratory, Japan
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- Yamamura Tomohiko
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Minamikawa Shogo
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Iijima Kazumoto
- Department of Pediatrics, Kobe University Graduate School of Medicine, Japan
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- Shibata Takanori
- Division of Nephrology, Department of Medicine, Showa University School of Medicine, Japan
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- Itabashi Kazuo
- Department of Pediatrics, Showa University School of Medicine, Japan
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Abstract
<p>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. </p>
Journal
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- Internal Medicine
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Internal Medicine 55 (19), 2843-2847, 2016
The Japanese Society of Internal Medicine
