PDF(Pubmed)
Abstract：
Ehlers-Danlos syndrome (EDS) is a collection of genetic disorders caused by abnormalities in collagen and typified by hyperflexible joints, hyperextensible skin, and a tendency for easy bruising and tissue injuries. Hypermobile Ehlers-Danlos syndrome (hEDS), the most common subtype, presents a diagnostic challenge due to the lack of specific genetic markers. This case report describes a 13-year-old girl with hEDS, presenting with hypermobility, thoracolumbar scoliosis, constipation, glucosuria, microscopic hematuria, urticaria, and intermittent episodes of bilateral hand and feet swelling. Genetic testing revealed a variant of uncertain significance in the COL9A2 gene. An echocardiogram showed a mildly dilated aortic root. The complexity of her presentation underscores the challenges in diagnosing and managing hEDS with multisystem involvement.
摘要：
Ehlers-Danlos综合征（EDS）是一组由胶原蛋白异常引起的遗传性疾病，以超柔性关节为代表，过度伸展的皮肤，以及容易瘀伤和组织损伤的趋势。HypermobileEhlers-Danlos综合征（hEDS），最常见的亚型，由于缺乏特定的遗传标记，提出了诊断挑战。这个病例报告描述了一个13岁的女孩患有hEDS,呈现过度活动，胸腰段脊柱侧凸,便秘,糖尿,镜下血尿,荨麻疹,双侧手脚肿胀的间歇性发作。基因检测揭示了COL9A2基因中具有不确定意义的变异。超声心动图显示主动脉根部轻度扩张。她的演讲的复杂性强调了在多系统参与下诊断和管理hEDS的挑战。
