Original articlesSurfactant protein deficiency in familial interstitial lung disease☆,☆☆
Section snippets
Case histories
Patient I, an 11-year-old girl, was given a diagnosis of ILD at the age of 7 years. Her family reported that for several years she seemed to tire easily with exertion. There was no history of cough, chest pain, fever, or recurrent sinopulmonary infections. There was also no evidence of cardiac, dermatologic, gastrointestinal, hepatic, immunologic, renal, or skeletal disorders. The patient was born 5 weeks prematurely, weighing 2250 g, to a 20-year-old mother. She remained in the hospital for 3
Radiologic studies
Chest radiographs demonstrated hyperinflation in all 3 patients. HRCT showed extensive areas of decreased attenuation. Expiratory images in patients I and III showed air trapping in these areas. This appearance reflects destructive changes in the parenchyma. The presence of hyperinflation and air trapping suggests that the predominant abnormality is emphysema or cystic lung disease. Ground-glass opacity was a predominant feature in patient III. Ground-glass opacity is a nonspecific finding but
Discussion
Surfactant deficiency is the principal cause of respiratory distress syndrome seen in infants born prematurely. A selective deficiency of SP-B has also been recognized as a cause of RDS in term infants.18 Successful trials of exogenous surfactant administration in the treatment of neonatal and adult forms of RDS demonstrate that surfactant deficiency and/or abnormality of its biophysical functions play an essential role in the development of acute lung injury.19 SP-C associates with surfactant
Acknowledgements
We thank Sherri A. Profitt for her technical assistance in performing the immunohistochemistry.
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Cited by (0)
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Supported by grants HL-56387, HL-54703, and HL-54187 from the National Institutes of Health and the Cystic Fibrosis Foundation.
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Reprint requests: Raouf Amin, MD, Children’s Hospital Medical Center, Division of Pulmonary Medicine, 3333 Burnet Ave, Cincinnati, OH 45229-3039.