Severe Glomerular Endothelial Injury Associated with a Short D4Z4 Repeat on Chromosome 4q35

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 w...

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Detalles Bibliográficos
Autores principales: Hibino, Satoshi, Takeda, Asami, Nishino, Ichizo, Iwata, Naoyuki, Nakano, Masaru, Tanaka, Kazuki, Yamakawa, Satoshi, Nagai, Takuhito, Uemura, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548678/
https://www.ncbi.nlm.nih.gov/pubmed/28717081
http://dx.doi.org/10.2169/internalmedicine.56.7441
Descripción
Sumario: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.

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