Cunha Margarida, Matias Mafalda, Marques Inês
Paediatrics, Centro Hospitalar Barreiro Montijo EPE, Barreiro, Portugal
Paediatrics, Centro Hospitalar Barreiro Montijo EPE, Barreiro, Portugal.
BMJ Case Rep. 2020 Feb 4;13(2):e231977. doi: 10.1136/bcr-2019-231977.
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 gene not yet described in the literature.
埃勒斯-当洛综合征（EDS），活动过度型，可能是最常见的EDS类型，也是最常见的遗传性结缔组织疾病。膀胱功能障碍是EDS罕见的临床表现，表现为原发性夜间遗尿。我们报告一名10岁男孩，因原发性夜间遗尿和白天尿急症状转诊至儿科肾脏病咨询门诊。就诊期间，发现其有关节活动过度倾向。评估时发现皮肤过度伸展，Beighton评分呈阳性。基因检测发现了一个文献中尚未描述的基因变异。
