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

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 48_50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。

Abstract:

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 48_50, and a hemizygous mutation, c.7915C > T(p.R2639X), 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.