CASE REPORT
A rare case of co-existence of hereditary multiple exostoses and steroid-sensitive nephrotic syndrome
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1
Students’ Scientific Group, Department of Pediatric Nephrology, Medical University, Lublin, Poland
2
Department of Paediatric Nephrology, Medical University, Lublin, Poland
Corresponding author
Tomasz Szawłoga
Students’ Scientific Group, Department of Paediatric Nephrology, Medical University, Lublin, Poland
J Pre Clin Clin Res. 2023;17(3):195-197
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ABSTRACT
Introduction:
Hereditary multiple exostoses (HME) is a rare autosomal dominant disorder, caused primarily by loss of
function mutations in 2 genes EXT1 and EXT2 linked to the synthesis of heparan sulfate (HS). Deficiency of HS causes the formation of numerous benign cartilage-capped bone tumours. There is no causal treatment for this disease. Surgery is recommended only for symptomatic lesions and malignant transformations.
Case Report:
The case is presented of an 11-year-old boy with a pathogenic variant in the EXT1 gene and steroid-sensitive nephrotic syndrome (NS), diagnosed at the age of 8. There are only single reports of the co-existence of HME and NS. Conceivably, HS deficiency may explain ultra-structural changes in kidney glomeruli that result in NS, although unknown, contributions. Further research is necessary.
Szawłoga T, Strzoda A, Sobieszczańska A. A rare case of coexistence of hereditary multiple exostoses and steroid-sensitive nephrotic
syndrome. J Pre-Clin Clin Res. 2013; 17(3): 195–197. doi: 10.26444/jpccr/168133
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