title: [I73T mutation in the pulmonary surfactant protein C gene associated with pediatric interstitial lung disease: a case study and the review of related literature].
abstract: OBJECTIVE
  To report a case of I73T mutation in the pulmonary surfactant protein (SP)-C gene associated with pediatric interstitial lung disease, and study the clinical diagnosis and review related literature, to investigate the role of gene detection in the diagnosis of interstitial lung disease in infants and children.
  
  
  METHODS
  The clinical, radiological, and genetic testing information of the case was analyzed and related literature was reviewed.
  
  
  RESULTS
  (1) An 8-month-old girl was hospitalized because of cough, tachypnea, continuous oxygen therapy and failure to thrive. Physical examination on admission revealed tachypnea, slight cyanosis and the three concave sign was positive, respiratory rate of 50 times/minute, scattered fine crackles could be heard over both lungs, clubbing fingers were found. No other abnormalities were noted. Laboratory test results: pathogenic examination was negative, multiple blood gas analysis suggested hypoxemia. Chest CT showed ground-glass like opacity, diffused tubercle infiltration. The I73T mutation in SP-C gene was identified by SP-related gene sequencing. (2) The review of related literature: Data of 3 infants with I73T mutation in SP-C gene showed that all the 3 cases had tachypnea and dyspnea, chest CT revealed diffuse infiltration or diffuse ground glass pattern in lungs, the major pathology of lungs was nonspecific interstitial pneumonia (NSIP).
  
  
  CONCLUSIONS
  A case of interstitial lung disease with I73T mutation in SP-C gene was preliminarily diagnosed in an infant. Gene test provides an important tool in the diagnosis of such pediatric interstitial lung disease.
authors.affiliation: Department of Pulmonology, Children's Hospital Affiliated to Soochow University, Suzhou 215003, China.
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.forename: Meijuan
authors.initials: M
authors.lastname: Wang
authors.forename: Zhengrong
authors.initials: Z
authors.lastname: Chen
authors.forename: Yongdong
authors.initials: Y
authors.lastname: Yan
authors.forename: Xinxing
authors.initials: X
authors.lastname: Zhang
authors.forename: Yuejie
authors.initials: Y
authors.lastname: Zheng
authors.forename: Huizhong
authors.initials: H
authors.lastname: Chen
authors.affiliation: Email: szdxjiwei@163.com.
authors.forename: Wei
authors.initials: W
authors.lastname: Ji
mesh_terms: D004417:Dyspnea; D005260:Female; D006801:Humans; D054988:Idiopathic Interstitial Pneumonias; D007223:Infant; D017563:Lung Diseases, Interstitial / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D011663:Pulmonary Surfactants; D014057:Tomography, X-Ray Computed
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C; D011663:Pulmonary Surfactants