A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to <i>De novo</i> Branchio-oto-renal Syndrome
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- Saiki Ryosuke
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Katayama Kan
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Kitano Masako
- Department of Otorhinolaryngology-Head & Neck Surgery, Mie University Graduate School of Medicine, Japan
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- Tsujimoto Kayo
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Tanaka Fumika
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Suzuki Yasuo
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Murata Tomohiro
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Kurita Tairo
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Okamoto Ryuji
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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- Takeuchi Kazuhiko
- Department of Otorhinolaryngology-Head & Neck Surgery, Mie University Graduate School of Medicine, Japan
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- Dohi Kaoru
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan
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Description
<p>Branchio-oto-renal syndrome is an autosomal dominant disorder characterized by branchial anomalies, hearing loss, and renal urinary tract malformations. We herein report a 32-year-old Japanese man with a right preauricular pit, bilateral mixed hearing loss, and malposition of the right kidney who presented with proteinuria. The findings of a left kidney biopsy were compatible with a perihilar variant of secondary focal segmental glomerular sclerosis. A trio exome analysis conducted among the patient and his parents failed to identify the causal gene variant, despite a sporadic pattern. His kidney function remained stable for 11 years with an angiotensin II receptor blocker. </p>
Journal
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- Internal Medicine
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Internal Medicine 61 (13), 2033-2038, 2022-07-01
The Japanese Society of Internal Medicine