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芬兰全国性对照登记研究发现,22q11.2缺失综合征患儿的住院感染率有所上升。

Finnish nationwide controlled register study found increased inpatient infections in children with 22q11.2 deletion syndrome.

作者信息

Wahrmann Sakari, Kainulainen Leena, Lempainen Johanna, Kytö Ville

机构信息

Department of Paediatrics and Adolescent Medicine, Turku University Hospital and University of Turku, Turku, Finland.

ERN-RITA Core Centre, RITAFIN, Turku, Finland.

出版信息

Acta Paediatr. 2025 Jun;114(6):1298-1304. doi: 10.1111/apa.17569. Epub 2024 Dec 30.

Abstract

AIM

Studies on treating infections in children with 22q11.2 deletion syndrome (22q11.2DS) have been limited. We characterised inpatient infections and outpatient antibiotic treatment.

METHODS

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.

RESULTS

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.

CONCLUSION

Children with 22q11.2DS had significantly more infections requiring hospitalisation than controls without the syndrome.

摘要

目的

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。

方法

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。

结果

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。

结论

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1954/12066910/c3fe4c8c48ae/APA-114-1298-g002.jpg

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