Division of Pediatric Hematology and Oncology, University of North Carolina School of Medicine, Chapel Hill, NC.
Department of Biostatistics, University of North Carolina-Chapel Hill, Chapel Hill, NC.
J Pediatr. 2018 Jun;197:207-213. doi: 10.1016/j.jpeds.2018.01.079. Epub 2018 Apr 11.
To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and adolescents.
This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard against which the clinical Curaçao criteria were compared. Patients were divided into 4 age categories: 0-5, 6-10, 11-15, and 16-21-years. Sensitivity and specificity were calculated for each age group, and for the overall population.
Overall the Curaçao criteria had a sensitivity of 68% (95% CI 60%-76%) and a specificity of 98% (95% CI 91%-100%). Sensitivity was lowest in the 0- to 5-year group, and increased with advancing age. The Curaçao criteria had the highest sensitivity in the 16- to 21-year-olds. Specificity was 100% in all age groups except for the 11- to 15-year-olds.
This study evaluated the use of the Curaçao criteria for the diagnosis of HHT in the pediatric population with a family history of HHT. In those between the age of 0 and 21 years who meet 1 criterion (unlikely HHT) or 2 criteria (possible HHT), genetic testing is preferred for diagnosis. The Curaçao criteria appear to reliably diagnose HHT in children and adolescents who meet 3 or 4 criteria (definite HHT).
评估临床 Curaçao 标准在儿童和青少年遗传性出血性毛细血管扩张症（HHT）诊断中的准确性。
这是一项回顾性、多中心病历回顾研究，共纳入 2002 年至 2016 年间评估的 673 例患者，其中 290 例符合研究条件。致病性突变的基因检测被认为是金标准，将其与临床 Curaçao 标准进行比较。患者被分为 4 个年龄组：0-5 岁、6-10 岁、11-15 岁和 16-21 岁。计算每个年龄组和总体的敏感性和特异性。
总体而言，Curaçao 标准的敏感性为 68%（95%CI 60%-76%），特异性为 98%（95%CI 91%-100%）。0-5 岁组的敏感性最低，随年龄增长而增加。Curaçao 标准在 16-21 岁组的敏感性最高。除 11-15 岁组外，所有年龄组的特异性均为 100%。
本研究评估了 Curaçao 标准在有 HHT 家族史的儿科人群中用于诊断 HHT 的应用。对于年龄在 0-21 岁之间符合 1 项标准（不太可能为 HHT）或 2 项标准（可能为 HHT）的患者，建议进行基因检测以明确诊断。Curaçao 标准似乎可可靠地诊断符合 3 或 4 项标准（明确为 HHT）的儿童和青少年的 HHT。
