Wahrmann Sakari, Kainulainen Leena, Lempainen Johanna, Kytö Ville
Department of Paediatrics and Adolescent Medicine, Turku University Hospital and University of Turku, Turku, Finland.
ERN-RITA Core Centre, RITAFIN, Turku, Finland.
Acta Paediatr. 2025 Jun;114(6):1298-1304. doi: 10.1111/apa.17569. Epub 2024 Dec 30.
Studies on treating infections in children with 22q11.2 deletion syndrome (22q11.2DS) have been limited. We characterised inpatient infections and outpatient antibiotic treatment.
Children born during 2005-2018 were eligible for this national Finnish retrospective register-based study. We recruited 98 children (54% male) with DiGeorge or velocardiofacial syndrome. The 980 matched controls had a benign murmur diagnosed before 1 year of age. The cumulative incidence of infections and antibiotic prescriptions and total prescriptions were measured.
The median age for 22q11.2DS diagnoses was under 1 year of age (range 0-14 years), with a median follow-up time of 9 years for diagnoses and 11 years for prescriptions. Children with 22q11.2DS had significantly higher hospitalisation rates than the controls for any infection (68.1% vs. 30.5%), gastroenteritis (16.8% vs. 4.0%), pneumonia (23.4% vs. 4.3%), severe bacterial infections, excluding pneumonia or pyelonephritis (15.0% vs. 4.1%) and viral wheezing (23.2% vs. 9.1%). Outpatient antibiotic prescriptions were similar, but the children with 22q11.2DS received them earlier than the controls, with a hazard ratio of 3.29 for ages 0-5 years and 1.84 for the entire follow-up.
Children with 22q11.2DS had significantly more infections requiring hospitalisation than controls without the syndrome.
关于治疗22q11.2缺失综合征（22q11.2DS）患儿感染的研究有限。我们对住院感染情况和门诊抗生素治疗进行了特征描述。
2005年至2018年出生的儿童符合这项基于芬兰全国回顾性登记的研究要求。我们招募了98名患有DiGeorge综合征或腭心面综合征的儿童（54%为男性）。980名匹配的对照组儿童在1岁前被诊断出有良性杂音。测量了感染、抗生素处方和总处方的累积发生率。
22q11.2DS诊断的中位年龄在1岁以下（范围0 - 14岁），诊断的中位随访时间为9年，处方的中位随访时间为11年。22q11.2DS患儿因任何感染的住院率显著高于对照组（68.1%对30.5%），包括肠胃炎（16.8%对4.0%）、肺炎（23.4%对4.3%）、不包括肺炎或肾盂肾炎的严重细菌感染（15.0%对4.1%）以及病毒性喘息（23.2%对9.1%）。门诊抗生素处方情况相似，但22q11.2DS患儿比对照组更早接受抗生素治疗，0至5岁时的风险比为3.29，整个随访期间为1.84。
与无该综合征的对照组相比，22q11.2DS患儿因感染需要住院治疗的情况明显更多。
