A Novel Mutation in <i>LMX1B</i> (p.Pro219Ala) Causes Focal Segmental Glomerulosclerosis with Alport Syndrome-like Phenotype
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- Oe Yuji
- Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan Department of Community Medical Support, Tohoku Medical Megabank Organization, Tohoku University, Japan
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- Mishima Eikan
- Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan
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- Mori Takayasu
- Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan
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- Okamoto Koji
- Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan Department of Community Medical Support, Tohoku Medical Megabank Organization, Tohoku University, Japan
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- Honkura Yohei
- Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan
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- Nagasawa Tasuku
- Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan
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- Yoshida Mai
- Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan
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- Sato Hiroshi
- JR Sendai Hospital, Japan
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- Suzuki Jun
- Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan
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- Ikeda Ryoukichi
- Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan
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- Sohara Eisei
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan
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- Uchida Shinichi
- Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Japan
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- Katori Yukio
- Department of Otolaryngology-Head and Neck Surgery, Tohoku University Graduate School of Medicine, Japan
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- Miyazaki Mariko
- Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan
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抄録
<p>A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a novel missense mutation in LMX1B, c.655C>G: p. (Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 60 (18), 2991-2996, 2021-09-15
一般社団法人 日本内科学会
