3日龄男婴呼吸困难合并内脏反位  

Dyspnea and situs inversus in a boy aged 3 days

作　　者：林慧佳[1] 罗芳 马晓路[1] LIN Hui-Jia;LUO Fang;MA Xiao-Lu(Neonatal Intensive Care Unit,Children’s Hospital,Zhejiang University School of Medicine/National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院新生儿重症监护室/国家儿童健康与疾病临床医学研究中心,浙江杭州310052 [2]浙江大学医学院附属第一医院儿科,浙江杭州310003

出　　处：《中国当代儿科杂志》2021年第6期633-638,共6页Chinese Journal of Contemporary Pediatrics

摘　　要：患儿,男,生后3 d,因气促2 d、发绀1 d入院。主要临床表现为生后早期出现的呼吸困难,合并内脏反位,最终确诊为Kartagener综合征。予以氧疗、抗感染、雾化等治疗后,患儿病情好转。基因检测结果提示患儿DNAH5基因存在1个大片段杂合缺失和1个半合子突变:exon 4850杂合缺失,c.7915C>T (p.R2639X)的半合子突变。Kartagener综合征是一种临床罕见的常染色体隐性遗传性疾病,该病例为国内首例报道新生儿期确诊的Kartagener综合征。[中国当代儿科杂志,2021,23 (6):633-638]A boy was admitted on day 3 after birth due to shortness of breath for 2 days and cyanosis for 1 day. He had clinical manifestations of dyspnea in the early postnatal period and situs inversus, and was finally diagnosed with Kartagener syndrome. His condition was improved after oxygen therapy, anti-infective therapy, and aerosol therapy. The genetic testing showed that there was a large-fragment loss of heterozygosity, exon 4850, and a hemizygous mutation,c.7915 C>T(p.R2639 X), in the DNAH5 gene. Kartagener syndrome is a rare autosomal recessive disease, and this is the first case of Kartagener syndrome diagnosed in the neonatal period in China.[Chinese Journal of Contemporary Pediatrics, 2021, 23(6): 633-638]

关 键 词：KARTAGENER综合征 内脏反位 呼吸困难 新生儿 

分 类 号：R726.5[医药卫生—儿科] R725.6[医药卫生—临床医学]