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- Yoshifusa Abe, Masayuki Iyoda, Kandai Nozu, Satoshi Hibino, Kei Hihara, Yutaka Yamaguchi, Tomohiko Yamamura, Shogo Minamikawa, Kazumoto Iijima, Takanori Shibata, and Kazuo Itabashi.
- Department of Pediatrics, Showa University School of Medicine, Japan.
- Intern. Med. 2016 Jan 1; 55 (19): 284328472843-2847.
AbstractWe 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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