title: [Clinical analysis of heterozygous ABCA3 mutations in children].
abstract: OBJECTIVE
  To investigate the association of ATP-binding cassette transporter A3 (ABCA3) gene mutations with severe neonatal respiratory distress syndrome (NRDS) and lung disease in children.
  
  
  METHODS
  Thirty-eight children hospitalized with respiratory disorders in Children's Hospital of Chongqing Medical University from January 2010 to December 2011 were screened. Two mutations (E292V, G1221S) in the ABCA3 gene were identified. Interstitial lung disease (ILD) was present in 10 cases, NRDS was found in 23 and congenital pulmonary dysplasia in 5 cases. There were 24 males and 14 females, with an age range of 1 hour to 15 years. Genomic DNA was prepared from blood samples and sequences were analyzed by polymerase chain reaction (PCR). Clinical feature, imaging characteristics and the results of gene detection were retrospectively analyzed.
  
  
  RESULTS
  Four cases with ABCA3 gene mutations were found; 2 patients (case 2 and case 4) had the heterozygous mutation of ABCA3 E292V. One was a 3-hour-old girl and another was a 52-day-old boy, 2 patients (case 1 and case 4) had the heterozygous mutation of ABCA3 G1221S. One was a 78-day-old boy and another was a girl, 15 years and one month old. The family history was negative for respiratory disease. Three patients (case 1, 2, 4 ) had NRDS and 2 (case 1, 2) of them were premature. One patient (case 3) had normal growth and development. She was diagnosed clinically as interstitial lung disease (ILD) after admission. The clinical outcomes of 4 cases were various. Case 1 had recurrent wheezing and inhaled corticosteroid was needed. Case 2 died because she failed to wean from mechanical ventilator. Case 3 was discharged with improvement but lost to follow-up. Case 4 grows normally.
  
  
  CONCLUSIONS
  Genetic variants within ABCA3 may be the genetic causes or background of a contributor to some unexplained refractory NRDS, and chronic lung disease developed in latter childhood. Identification of ABCA3 genetic variants in NRDS infants is important to offer genetic counseling, as well as early prognosis estimation and intervention in pediatric chronic lung disease.
authors.affiliation: Center of Respiratory Disorders, Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing CSTC2009CA5002 Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Xiujuan
authors.initials: X
authors.lastname: Xu
authors.affiliation: Center of Respiratory Disorders, Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing CSTC2009CA5002 Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China. Email: emliu186@126.com.
authors.forename: Enmei
authors.initials: E
authors.lastname: Liu
authors.affiliation: Center of Respiratory Disorders, Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing CSTC2009CA5002 Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Zhengxiu
authors.initials: Z
authors.lastname: Luo
authors.affiliation: Center of Respiratory Disorders, Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing CSTC2009CA5002 Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Luo
authors.affiliation: Center of Respiratory Disorders, Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing CSTC2009CA5002 Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Fu
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D017563:Lung Diseases, Interstitial / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011859:Radiography; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics*
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters