One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study
复制标题
DOI：
10.1016/s2213-8587(13)70007-x
复制
发表时间：
2013-09-01
影响因子：
44.5
通讯作者：
Nordenstrom, Anna
中科院分区：
文献类型：
--
作者：
Gidlof, Sebastian;Falhammar, Henrik;Nordenstrom, Anna
由于21-羟化酶缺乏引起的先天性肾上腺皮质增生导致皮质醇和醛固酮缺乏，严重时是致命的。我们的目的是评估随着时间的推移，这种疾病的患者的护理中的历史医疗改进的效果，并评估新生儿筛查在Sweden.Methods的影响对于这种回顾性的，以人群为基础的队列研究，我们收集了所有已知的先天性肾上腺皮质增生症患者在瑞典1910年和2011年之间的数据。数据来源包括瑞典国家筛查实验室的登记处，通过瑞典新生儿筛查计划确定的患者，向实验室报告的晚期诊断患者，以及接受遗传诊断或通过临床接触为我们所知的患者。所有已知的患者被纳入一项基于人群的队列研究的分布的临床严重程度，基因型，性别和全国范围内的新生儿screening.Findings的效果，我们确定了606例患者的疾病，出生于1915年和2011年之间。490例患者（81%）的CYP 21 A2基因型（21-羟化酶缺乏）是已知的。在整个队列中，女性与男性的比例为1.25，但在筛选检测到的患者中接近1。我们注意到，在20世纪60年代和70年代诊断出的患者数量急剧增加，在1986年引入新生儿筛查后，患有盐耗型先天性肾上腺增生症的患者比例在男女中都有所增加，从1950年至1985年的242人中的114人（47%）到1986年至2011年的292人中的165人（57%）（p=0.038）。在1970年以前，平均每年有5到10名儿童失踪。非经典形式的疾病被诊断出更经常在女性比男性，这占女性优势，在我们的coherent.Interpretation我们的研究结果表明，相反，目前的信念，男孩和女孩的盐耗性先天性肾上腺皮质增生同样错过了临床。新生儿筛查改善了对男孩和女孩的盐耗形式的检测，挽救了男女的生命。非经典形式在女性中的诊断频率高于男性，导致该队列中女性占优势。
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency results in cortisol and aldosterone deficiency and is, in its most severe form, lethal. We aimed to assess the effect of historical medical improvements in the care of patients with this disorder over time and to assess the effects of neonatal screening in Sweden.Methods For this retrospective, population-based cohort study, we collected data for all known patients with congenital adrenal hyperplasia in Sweden between 1910 and 2011. Data sources included the registry at the Swedish national screening laboratory, patients identified via the Swedish neonatal screening programme, late-diagnosed patients reported to the laboratory, and patients who underwent genetic diagnostics or became known to us through clinical contacts. All known patients were included in a population-based cohort study of the distribution of clinical severity, genotype, sex, and the effect of nationwide neonatal screening.Findings We identified 606 patients with the disorder, born between 1915 and 2011. The CYP21A2 genotype (conferring deficiency of 21-hydroxylase) was known in 490 patients (81%). The female-to-male ratio was 1.25 in the whole cohort, but close to 1 in patients detected by the screening. We noted a sharp increase in the number of patients diagnosed in the 1960s and 1970s, and after the introduction of neonatal screening in 1986 the proportion of patients with the salt-wasting form of congenital adrenal hyperplasia increased in both sexes, from 114 (47%) of 242 individuals between 1950 and 1985 to 165 (57%) of 292 individuals between 1986 and 2011 (p=0.038). On average, five to ten children were missed every year before 1970. The non-classic form of the disorder was diagnosed more often in women than in men, which accounts for the female preponderance in our cohort.Interpretation Our findings suggest that, contrary to current belief, boys and girls with salt-wasting congenital adrenal hyperplasia were equally missed clinically. Neonatal screening improved detection of the salt-wasting form in girls as well as boys, saving lives in both sexes. The non-classic form was diagnosed more often in women than it was in men, leading to the female preponderance in this cohort.