Ehlers-Danlos syndrome presenting with primary nocturnal enuresis.
congenital disorders
connective tissue disease
genetic screening/counselling
musculoskeletal and joint disorders
urinary and genital tract disorders
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
04 Feb 2020
04 Feb 2020
Historique:
entrez:
7
2
2020
pubmed:
7
2
2020
medline:
8
10
2020
Statut:
epublish
Résumé
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
Identifiants
pubmed: 32024714
pii: 13/2/e231977
doi: 10.1136/bcr-2019-231977
pmc: PMC7021119
pii:
doi:
Substances chimiques
COL5A1 protein, human
0
Collagen Type V
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
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