Diagnosis and treatment of a child with alveolar capillary dysplasia with misalignment of pulmonary veins due to variant ofFOXF1 gene
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目的 探讨1例严重肺动脉高压、呼吸衰竭新生儿的诊治过程及遗传特征。 方法 以2021年3月于泉州市妇幼保健院·儿童医院收治的1例患儿作为研究对象。收集患儿的围产期情况、临床表现、实验室及影像学检查结果以及诊治资料。对患儿进行全外显子组测序，对检出的候选变异进行Sanger测序家系验证。 结果 患儿为女性，出生后不久出现进展性呼吸衰竭与顽固性肺动脉高压，机械通气、血管活性药物、吸入一氧化氮等常规治疗无效，经体外膜肺氧合治疗撤机后再发持续性肺动脉高压，家属放弃治疗后死亡。全外显子组测序发现其携带FOXF1基因c.682_683insGCGGCGGC(p.G234Rfs*148)新发杂合变异，根据美国医学遗传学与基因组学学会(ACMG)相关指南评级为致病性变异，证据项为PVS1_Strong+PM2_Supporting+PS2。根据其临床特征及基因检测结果，诊断患儿为肺泡毛细血管发育不良伴肺静脉错位(ACD/MPV)。 结论 FOXF1基因c.682_683insGCGGCGGC(p.G234Rfs*148)的发现丰富了FOXF1基因的变异谱，为其临床诊治和遗传咨询提供了依据。 Objective To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. Methods Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. Results The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c. 682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+ PM2_Supporting+ PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). Conclusion Discovery of the c. 682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Objective To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. Methods Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. Results The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c. 682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+ PM2_Supporting+ PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). Conclusion Discovery of the c. 682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Alveolar capillary dysplasia with misalignment of the pulmonary veinsFOXF1 genePulmonary hypertensionExtracorporeal membrane oxygenationNeonate
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