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Case Reports
. 2010 Aug;25(8):1551-4.
doi: 10.1007/s00467-010-1474-5. Epub 2010 Feb 27.

Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

Ben C Reynolds  1 , Richard J L F Lemmers, John Tolmie, Allan G Howatson, David A Hughes
Affiliations
Case Reports

Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association

Ben C Reynolds et al. Pediatr Nephrol. 2010 Aug.

Abstract

We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats' disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome.

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Figures

Fig. 1
Fig. 1
Haematoxylin and eosin stain demonstrating glomerulosclerosis and mesangial thickening
See this image and copyright information in PMC

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