CASE REPORT
A rare case of co-existence of hereditary multiple exostoses and steroid-sensitive nephrotic syndrome
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
Students’ Scientific Group, Department of Paediatric Nephrology, Medical University, Lublin, Poland
J Pre Clin Clin Res. 2023;17(3):195-197
KEYWORDS
TOPICS
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.
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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| eISSN: | 1898-7516 |
| ISSN: | 1898-2395 |
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