Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
A Novel Mutation in a Japanese Family with X-linked Alport Syndrome
Yoshifusa AbeMasayuki IyodaKandai NozuSatoshi HibinoKei HiharaYutaka YamaguchiTomohiko YamamuraShogo MinamikawaKazumoto IijimaTakanori ShibataKazuo Itabashi
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JOURNAL OPEN ACCESS

2016 Volume 55 Issue 19 Pages 2843-2847

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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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© 2016 by The Japanese Society of Internal Medicine
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