Internal medicine (Tokyo, Japan) · 2017
Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Hibino Satoshi, Takeda Asami, Nishino Ichizo, Iwata Naoyuki, Nakano Masaru, Tanaka Kazuki, Yamakawa Satoshi, Nagai Takuhito, Uemura Osamu
Аннотация
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality. Screening of renal complications may be necessary for FSHD patients. This patient requires close follow-up for her muscle symptoms.