Mohamed Fatema, Basavaraju Umesh
Gastroenterology and Hepatology, Aberdeen Royal Infirmary Hospital, Aberdeen, GBR.
Cureus. 2024 Aug 12;16(8):e66700. doi: 10.7759/cureus.66700. eCollection 2024 Aug.
The VACTERL/VATER association is a rare congenital disorder characterized by the presence of at least three of its main components: vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistulas, esophageal atresia, renal anomalies, and limb defects. The exact cause of the VACTERL association is not fully understood. Most cases occur randomly. However, some research suggests that genetics and environmental factors may play a role. In addition to the core components of the VACTERL association, affected individuals may also have anomalies beyond the typical features. Biliary anomalies, although not classically included in the definition, have been documented in individuals with VACTERL syndrome, adding more complexity to this condition. Patients with biliary anomalies may present with jaundice, abdominal pain, or poor growth. The presence of biliary anomalies in individuals with VACTERL syndrome can have an impact on their care and outcomes. Detecting and treating these anomalies usually involves a multidisciplinary team. Timely identification and proper management of these bile-related issues are essential to prevent complications such as cholangitis.
VACTERL/VATER综合征是一种罕见的先天性疾病，其特征是至少存在以下主要组成部分中的三个：脊柱缺陷、肛门闭锁、心血管异常、气管食管瘘、食管闭锁、肾脏异常和肢体缺陷。VACTERL综合征的确切病因尚不完全清楚。大多数病例是随机发生的。然而，一些研究表明，遗传因素和环境因素可能起作用。除了VACTERL综合征的核心组成部分外，受影响的个体可能还存在典型特征以外的异常情况。胆汁异常虽然未被经典地纳入该综合征的定义中，但在VACTERL综合征患者中已有记录，这使得该病症更加复杂。患有胆汁异常的患者可能会出现黄疸、腹痛或生长发育不良。VACTERL综合征患者中胆汁异常的存在会对其治疗和预后产生影响。检测和治疗这些异常通常需要一个多学科团队。及时识别和妥善处理这些与胆汁相关的问题对于预防诸如胆管炎等并发症至关重要。
