先天性上尺桡关节融合的研究进展

Research Progress of Congenital Radioulnar Synostosis

摘要: 先天性上尺桡关节融合是一种罕见的先天性疾病，表现为前臂近端桡骨与尺骨之间异常融合，导致前臂旋转功能受限。这种疾病与骨形态发生蛋白(BMP)信号通路的异常有关，但其确切机制尚不清楚。制定科学的分类和筛查标准对于早期诊断和干预至关重要。目前，X线和CT扫描仍然是诊断CRUS的主要影像学工具。对于复杂病例，MRI在评估软组织结构异常方面也具有重要价值。在治疗方面，选择方案需根据患者的个体功能需求制定。旋转截骨术已被证明是改善严重功能障碍的一种有效手术方法，可显著提高患者的生活质量。然而，对于症状较轻或功能需求较低的患者，保守治疗和功能训练可能已足够满足其生活需求。建立先天性尺桡骨近端融合的分类系统和早期筛查方案是改善患者预后的关键。更深入地了解与这种疾病相关的遗传因素和BMP通路异常将利于更好地筛查管理以及制定更有效的治疗策略。

Abstract: Congenital radioulnar synostosis (CRUS) is a rare condition characterized by abnormal fusion of the proximal radius and ulna, leading to restricted forearm rotation. This disorder is associated with abnormalities in the bone morphogenetic protein (BMP) signaling pathway, although the exact mechanism remains unclear. Developing robust classification and screening criteria is essential for early diagnosis and intervention. Currently, X-rays and CT scans are the primary diagnostic tools for CRUS. In complex cases, MRI provides additional value by evaluating soft tissue abnormalities. Treatment strategies should be tailored to the patient’s functional needs. Rotational osteotomy has proven effective in addressing severe dysfunction, significantly enhancing patients’ quality of life. For those with mild symptoms or lower functional demands, conservative management and functional training are often sufficient to maintain daily activities. Establishing a comprehensive classification system and early screening program is crucial to improving patient outcomes. Further research into the genetic underpinnings of CRUS, particularly BMP pathway abnormalities, will facilitate better diagnostic methods, management protocols, and innovative treatment strategies.