Pattloch Dagmar
Bundesanstalt für Arbeitsschutz und Arbeitsmedizin, Berlin.
Gesundheitswesen. 2019 Dec;81(12):986-992. doi: 10.1055/a-0719-5165. Epub 2018 Oct 17.
Sickle cell disease (SCD, ICD-10:D57) is a hemoglobinopathy of global public health relevance. As an autosomal recessive genetic disorder, it affects 70-150 newborns in Germany per year (1-2 per 10,000). Early detection during the asymptomatic first 3 months of life would meet national treatment recommendations and prevent disease sequelae.
Objectives are 1) to measure the prevalence of SCD in newborns in the AOK's claims data, 2) to determine the age at first diagnosis D57, and 3) to count typical hospitalizations.
Inpatient and outpatient data on 204 children born in 2009 and 2010, insured with the AOK for at least one day in their year of birth and coded as D57 during 6 calendar years were analyzed. The number of newborns in the AOK in 2009 and 2010 (denominator) is known.
Valid SCD cases (numerator) fulfilled the requirement for D57 (except D57.3) to be coded at least 2 times in different quarters of years. The prevalence proportion (PP) was calculated with a bootstrapped confidence interval (CI). The first mention of D57 per case was dated in quarters of years (Q). The Standardized Incidence Ratio (SIR) was calculated to compare hospitalizations from the month 13 to month 61 with the age- and sex-matched population (1-4-year olds). The calculations were performed with SPSS 22 and Excel.
The validation resulted in 78 SCD cases. The prevalence was 1.96 (95% CI 1.53-2.41) per 10,000 newborns. Regions of higher prevalence were Berlin, Bremen and Hamburg (summarized) and North Rhine-Westphalia. In only 15.4% of the cases, D57 was mentioned early (in Q1-2). The median date was in Q7. There were 266 hospitalizations in relation to 78 children, with an SIR=6.8. The rate of hospitalizations was thus 6.8 times higher than in the population. Feared outcomes such as pneumonia, septicemia and splenic disorders were among the hospital discharge diagnoses.
SCD in Germany is evident in claims data of Germany's largest statutory health insurance. At present, the opportunity for early detection is being widely missed. The time to diagnosis could be shortened by the inclusion of SCD in the universal newborn screening. Until this policy is implemented, parents with a relevant family background and health professionals should pay more attention to SCD.
镰状细胞病（SCD，国际疾病分类第十版：D57）是一种具有全球公共卫生意义的血红蛋白病。作为一种常染色体隐性遗传病，德国每年有70 - 150名新生儿受其影响（每10000名中有1 - 2名）。在出生后的无症状前3个月内进行早期检测符合国家治疗建议，并可预防疾病后遗症。
目标是1）测量AOK理赔数据中新生儿SCD的患病率，2）确定首次诊断为D57的年龄，3）统计典型住院病例数。
分析了2009年和2010年出生的204名儿童的住院和门诊数据，这些儿童在出生当年至少有一天参保于AOK，并在6个日历年中编码为D57。已知2009年和2010年AOK中的新生儿数量（分母）。
有效的SCD病例（分子）满足D57（D57.3除外）在不同年份季度至少编码2次的要求。患病率比例（PP）通过自举置信区间（CI）计算。每个病例首次提及D57的日期按年份季度（Q）确定。计算标准化发病率（SIR）以比较13个月至61个月的住院情况与年龄和性别匹配的人群（1 - 4岁）。计算使用SPSS 22和Excel进行。
验证后有78例SCD病例。患病率为每10000名新生儿1.96（95% CI 1.53 - 2.41）。患病率较高的地区是柏林、不来梅和汉堡（汇总）以及北莱茵 - 威斯特法伦州。仅15.4%的病例中，D57在早期（第1 - 2季度）被提及。中位日期在第7季度。78名儿童相关的住院病例有266例，SIR = 6.8。因此住院率比人群高6.8倍。令人担忧的结局如肺炎、败血症和脾脏疾病在出院诊断中出现。
德国的SCD在德国最大的法定健康保险理赔数据中很明显。目前，早期检测的机会被广泛错过。将SCD纳入普遍的新生儿筛查可缩短诊断时间。在该政策实施之前，有相关家族背景的父母和卫生专业人员应更加关注SCD。
