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[I73T mutation in the pulmonary surfactant protein C gene associated with pediatric interstitial lung disease: a case study and the review of related literature].

AbstractOBJECTIVE:
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.
METHOD:
The clinical, radiological, and genetic testing information of the case was analyzed and related literature was reviewed.
RESULT:
(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).
CONCLUSION:
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.
AuthorsLi Huang, Meijuan Wang, Zhengrong Chen, Yongdong Yan, Xinxing Zhang, Yuejie Zheng, Huizhong Chen, Wei Ji
JournalZhonghua er ke za zhi = Chinese journal of pediatrics (Zhonghua Er Ke Za Zhi) Vol. 52 Issue 11 Pg. 846-50 (Nov 2014) ISSN: 0578-1310 [Print] China
PMID25582472 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • Pulmonary Surfactant-Associated Protein C
  • Pulmonary Surfactants
Topics
  • Dyspnea
  • Female
  • Humans
  • Idiopathic Interstitial Pneumonias
  • Infant
  • Lung Diseases, Interstitial (diagnosis, genetics)
  • Mutation
  • Pulmonary Surfactant-Associated Protein C (genetics)
  • Pulmonary Surfactants
  • Tomography, X-Ray Computed

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