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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Bibliographic Details
Published in:Internal Medicine 2017/07/15, Vol.56(14), pp.1849-1853
Main Authors: Hibino, Satoshi, Takeda, Asami, Nishino, Ichizo, Iwata, Naoyuki, Nakano, Masaru, Tanaka, Kazuki, Yamakawa, Satoshi, Nagai, Takuhito, Uemura, Osamu
Format: Article
Language:English
Subjects:
Age
Blotting, Southern
Case Report
Child, Preschool
Chromosome 4
Chromosomes
Chromosomes, Human, Pair 4 - genetics
Coats disease
Complications
D4Z4 repeat
Deafness
Dystrophy
Endothelium, Vascular - pathology
facioscapulohumeral muscular dystrophy
Female
focal segmental glomerulosclerosis
Genetic screening
glomerular endothelial injury
Humans
Internal medicine
Kidney Glomerulus - pathology
Kidneys
Muscles
Muscular dystrophy
Muscular Dystrophy, Facioscapulohumeral - pathology
Nephrotic syndrome
Retinopathy
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Summary: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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.56.7441