目的:获得1型(NF1)和2型(NF2)神经纤维瘤病的发病率和患病率的最新估计。
方法:我们对NF1和NF2发病率或患病率研究进行了系统搜索,在OVIDMedline,OVIDEmbase,WebofScience,还有Cinahl.使用JoannaBriggs研究所患病率批判性评估工具对研究进行了评估。通过随机效应荟萃分析估计合并的发病率和患病率。
结果:来自1,939份摘要,对20项研究进行了全面评估,其中12项纳入了最终审查。合并的NF1患病率为3,164中的1(95CI:1在4,712中的2,132-1中的95CI:1)。与通过医疗记录鉴定NF1相比,在筛选NF1的研究中这一比例更高(分别为2,020中的1和4,329中的1)。NF1合并出生发病率为2,662人中的1人(3,601人中的1,968-1人中的95CI:1人)。只有两项关于NF2患病率的研究,所以数据没有汇总。合并的NF2出生率为每50,000例出生1.08(95,CI:1/32,829-1/65,019)。
结论:我们提供了NF1和NF2的发病率和患病率的最新估计,以帮助计划医疗保健的获取和分配。筛查研究的NF1患病率高于病历研究,这表明这种疾病可能被认识到了。关于NF2的患病率需要更多的研究。
To obtain updated estimates of the incidence and prevalence of neurofibromatosis type 1 (NF1) and type 2 (NF2).
We conducted a systematic search of NF1 and NF2 incidence or prevalence studies, in OVID Medline, OVID Embase, Web of Science, and Cinahl. Studies were appraised with the Joanna Briggs Institute Prevalence Critical Appraisal tool. Pooled incidence and prevalence rates were estimated through random-effects meta-analysis.
From 1,939 abstracts, 20 studies were fully appraised and 12 were included in the final
review. Pooled NF1 prevalence was 1 in 3,164 (95%CI: 1 in 2,132-1 in 4,712). This was higher in studies that screened for NF1, compared to identification of NF1 through medical records (1 in 2,020 and 1 in 4,329, respectively). NF1 pooled birth incidence was 1 in 2,662 (95%CI: 1 in 1,968-1 in 3,601). There were only 2 studies on NF2 prevalence, so data were not pooled. Pooled NF2 birth incidence was 1.08 per 50,000 births (95%CI: 1 in 32,829-1 in 65,019).
We present updated estimates of the incidence and prevalence of NF1 and NF2, to help plan for healthcare access and allocation. The prevalence of NF1 from screening studies is higher than from medical record studies, suggesting that the disease may be under recognized. More studies are needed regarding the prevalence of NF2.