Analysis Study Of A Case Of NRDS Carrying ABCA3 Compound Heterozygous Mutation

Objective:We analyzed and reported a case of neonatal respiratory distress syndrome（NRDS）causing by ATP-binding cassette transporter A3（ABCA3）compound heterozygous mutation,in order to improve the understanding of this kind of diseases.Methods:We analyzed a case of NRDS who carried compound heterozygous ABCA3 mutation,and summarized its clinical characteristics and disease course.The amino acid sequences of ABCA3 of different species were searched and multiple sequence alignments were performed to analyze conservation of the corresponding amino acid sites of the mutant sites.Results:The male full-term child patient was admitted 14 hours after birth because of ’groaning aggravating progressively for 12 hours’ and expiratory groaning and mild three concave sign were seen on admission.On the first day with oxygen hood child patient’s skin appeared grey and tachypnea aggravated.He was intubated and supported by ventilator and given porcine pulmonary surfactant.The condition was improved after treatment.On the 11th day and 38th day,the child patient was treated with porcine pulmonary surfactant according to the condition and condition was improved after treatment.He kept depending on ventilator for a long time after birth.On the 57th day the result of gene test showed compound heterozygous mutation of ABCA3（C.3997₃998del and C.3137C>T）.On the 80th day,the ventilator mode was adjusted to non-invasive ventilator ventilation.On the 214th day,he was given oxygen through nasal cannula.On the 271th day,the tachypnea aggravated,cyanosis appeared,and oxygen saturation decreased.Non-invasive ventilator ventilation was given.Oxygen saturation still decreases intermittently.The parents requested to terminate treatment and went through the discharge formalities on the 275th day.Multiple sequence alignments revealed that the corresponding amino acid sites of the mutations were highly conserved.Conclusion:The child patient was a full-term newborn who depended on ventilator or oxygen support for a long time after birth,and still depended on ventilator support at 9 months.The parents decided to terminate treatment.The disease course of the child patient was consistent with previous reports,namely,null/null mutation of ABCA3 gene could lead to rapid death of the newborn after birth.However,the clinical course of null/other mutations can be quite different.When full-term infants appear with persistent respiratory distress,the possibility of genetic NRDS（such as ABCA3 gene mutation）should be alerted.Imaging findings,genetic test should be considered to confirm the diagnosis.Both pulmonary surfactant replacement therapy and mechanical ventilation therapy can effectively improve the symptoms of NRDS,but there is still no radical cure for lung diseases which are caused by ABCA3 mutations,such as NRDS.