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Case Reports
A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome: A Case Report.
- Ryosuke Saiki, Kan Katayama, Masako Kitano, Kayo Tsujimoto, Fumika Tanaka, Yasuo Suzuki, Tomohiro Murata, Tairo Kurita, Ryuji Okamoto, Kazuhiko Takeuchi, and Kaoru Dohi.
- Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan.
- Intern. Med. 2022 Jul 1; 61 (13): 2033-2038.
AbstractBranchio-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.
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