Department of Pediatrics, The Department of Biostatistics and Epidemiology at the University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. doi: 10.1097/MPG.0b013e3181cb9629.
: In this retrospective study, we aimed to determine the incidence and distribution of fractures in patients with Alagille syndrome, 1 of the leading inherited causes of pediatric cholestatic liver disease.
: Surveys regarding growth, nutrition, and organ involvement were distributed to patient families in the Alagille Syndrome Alliance of the Children's Hospital of Philadelphia research database. Patients with a history of fracture were identified by their response to 1 question, and details characterizing each patient's medical, growth, and fracture history were obtained through chart review and telephone contact.
: Twelve of 42 patients (28%) reported a total of 27 fractures. Patients experienced fractures at a mean age of 5 years, which contrasts with healthy children, in whom fracture incidence peaks in adolescence. Fractures occurred primarily in the lower extremity long bones (70%) and with little or no trauma (84%). Estimated incidence rate calculations yielded 399.6 total fractures per 10,000 person-years (95% confidence interval 206.5, 698.0) and 127.6 femur fractures per 10,000 person-years (95% confidence interval 42.4, 297.7). There were no differences in sex, age distribution, or organ system involvement between the fracture and no-fracture groups.
: Children with Alagille syndrome may be at risk for pathologic fractures, which manifest at an early age and in a unique distribution favoring the lower extremity long bones. Although this preliminary study is limited by small sample size and potential ascertainment bias, the data suggest that larger studies are warranted to further characterize fracture risk and explore factors contributing to bone fragility in these children.
在这项回顾性研究中，我们旨在确定 1 种导致小儿胆汁淤积性肝病的主要遗传性病因——Alagille 综合征患者骨折的发生率和分布情况。
我们向费城儿童医院 Alagille 综合征联盟的患儿家庭研究数据库中的患者家属分发了关于生长、营养和器官受累情况的调查。通过对 1 个问题的回答来识别有骨折病史的患者，并通过病历回顾和电话联系获取每位患者的医疗、生长和骨折病史的详细信息。
42 名患者中有 12 名（28%）报告了总共 27 处骨折。患者骨折的平均年龄为 5 岁，与健康儿童形成对比，后者的骨折发生率在青春期达到高峰。骨折主要发生在下肢长骨（70%），且几乎没有或没有创伤（84%）。估计的发病率计算得出，每 10,000 人年有 399.6 例总骨折（95%置信区间 206.5，698.0）和 127.6 例股骨骨折（95%置信区间 42.4，297.7）。骨折组和无骨折组在性别、年龄分布或器官系统受累方面无差异。
Alagille 综合征患儿可能存在病理性骨折风险，这些骨折在早期发生且分布独特，以下肢长骨为主。尽管这项初步研究受到样本量小和潜在检测偏倚的限制，但数据表明需要进行更大规模的研究以进一步确定骨折风险，并探讨导致这些儿童骨骼脆弱的因素。
