Ehlers-Danlos syndrome (EDS), hypermobility type, is probably the most common EDS type, as well as the most common heritable connective tissue disorder. Bladder dysfunction is a rare clinical manifestation of EDS and manifests itself as primary nocturnal enuresis. We present a 10-year-old boy referred to the paediatrics nephrology consultation due to primary nocturnal enuresis and day time symptoms of urinary urgency. During the appointment, a tendency to joint hypermobility was noted. On evaluation the skin was hyperextensible and the Beighton score was positive. The genetic testing revealed a variant of the COL5A1 gene not yet described in the literature.
- musculoskeletal and joint disorders
- urinary and genital tract disorders
- genetic screening/counselling
- congenital disorders
- connective tissue disease
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Contributors Conception and design: MC, MM, IM. Acquisition of data: MC, MM. Analysis and interpretation of data: MC, MM, IM. Drafting the article: MC, MM. Critical revision: IM. Contribute with intellectual content: MC, MM, IM. Final approval of the version published: MC, MM, IM. Agreement to be accountable for the article and to ensure that all questions regarding the accuracy or integrity of the article are investigated and resolved: MC, MM, IM.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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