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Identification of Early Interstitial Lung Disease in an Individual With Genetic Variations in ABCA3 and SFTPC

Peter F. Crossno, MD; Vasiliy V. Polosukhin, MD, PhD; Timothy S. Blackwell, MD; Joyce E. Johnson, MD; Cheryl Markin, BS; Paul E. Moore, MD; John A. Worrell, MD; Mildred T. Stahlman, MD; John A. Phillips, III, MD; James E. Loyd, MD; Joy D. Cogan, PhD; William E. Lawson, MD
Author and Funding Information

Correspondence to: William E. Lawson, MD, Assistant Professor of Medicine, Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, T-1218 MCN, Nashville, TN 37232-2650; e-mail: william.lawson@vanderbilt.edu


Funding/Support: This study was funded by the National Institutes of Health [Grants HL85317, HL85406, HL87738, M01 RR00095, and UL1 RR024975]; American Thoracic Society Research Grant Program; American Lung Association Dalsemer Research Grant; and the Francis Family Foundation. Dr Lawson is a Parker B. Francis Fellow in Pulmonary Research.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (www.chestpubs.org/site/misc/reprints.xhtml).


© 2010 American College of Chest Physicians


Chest. 2010;137(4):969-973. doi:10.1378/chest.09-0790
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A man with usual interstitial pneumonia (age of onset 58 years) was previously found to have an Ile73Thr (I73T) surfactant protein C (SFTPC) mutation. Genomic DNA from the individual and two daughters (aged 39 and 43 years) was sequenced for the I73T mutation and variations in ATP-binding cassette A3 (ABCA3). All three had the I73T SFTPC mutation. The father and one daughter (aged 39 years) also had a transversion encoding an Asp123Asn (D123N) substitution in ABCA3. The daughters were evaluated by pulmonary function testing and high-resolution CT (HRCT). Neither daughter had evidence of disease, except for focal subpleural septal thickening on HRCT scan in one daughter (aged 39 years). This daughter underwent bronchoscopy with transbronchial biopsies revealing interstitial fibrotic remodeling. These findings demonstrate that subclinical fibrotic changes may be present in family members of patients with SFTPC mutation-associated interstitial lung disease and suggest that ABCA3 variants could affect disease pathogenesis.

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