0
Diffuse Lung Disease |

Heterozygous Mutation of Surfactant Protein-C Presenting as Lipoid Interstitial Pneumonia

Rizwana Popatia*, MD; Dawn Ericson, MD
Author and Funding Information

Children's Hospital, Boston, MA


Chest. 2012;142(4_MeetingAbstracts):452A. doi:10.1378/chest.1390559
Text Size: A A A
Published online

Abstract

SESSION TYPE: ILD Cases II

PRESENTED ON: Tuesday, October 23, 2012 at 11:15 AM - 12:30 PM

INTRODUCTION: Interstitial lung diseases are a heterogeneous group of disorders that are poorly understood at a molecular level. Mutations in the surfactant protein-C (SFTPC) gene are associated with chronic interstitial lung diseases in both pediatric and adult patients by accumulation of mutated proSP-C protein in the Type-II cell. We present an interesting case of a now 19 years old girl with endogenous lipoid interstitial pneumonia potentially due to the intron polymorphism in SP-C gene (IVS1-7G>A).

CASE PRESENTATION: 15 year old girl with no significant past medical history presented with symptoms of progressively worsening exertional dyspnea of 6 months duration. Extensive multisystem review was otherwise negative. No family members had significant lung disease. Her lungs were clear on examination. Laryngoscopic evaluation revealed normal vocal cord function. Her chest x-ray revealed slight interstitial prominence and a CT scan showed innumerable subpleural blebs as well multiple parenchymal blebs at the lung bases. An extensive laboratory evaluation including CBC, CRP, ESR, alpha-1-antitrypsin levels, karyotyping and TS genetic mutations were unremarkable. She underwent VATS with wedge biopsy, which revealed subpleural and intraparenchymal epithelium-lined small cysts with focal intramural smooth muscle and findings suggestive of endogenous lipoid pneumonia. Immunohistochemical staining was very robust for proSP-C. Genetic testing for SP-B and ABCA-3 deficiency was negative, however, a known mutation (IVS1-7G-A) of SP-C deficiency was identified, which was heterozygous. She had numerous pulmonary function tests over time, that continued to show a mildly restrictive pattern but seemed to be declining over time. The flows did not change following exercise or albuterol. Her FEV1 was 80% predicted at presentation, which decreased to 57% predicted 3 years later along with 10% decline in her DLCO in the same period. Her DL/VA reduced from 78% to 65% predicted. Repeat chest x-ray and CT-scan showed increase in interstitial markings as compared to previous films.

DISCUSSION: So far, there has been only one case of usual interstitial pneumonitis reported with IVSI-7G>A mutation. Lung biopsy and Genetic testing are gold standard for diagnosis. PFT’s are a sensitive tool to monitor the progression of disease as radiological findings may lag compared to clinical progression. Progressive pulmonary fibrosis is the usual outcome. Steroids and/or Plaquenil are the usual treatment of choice.

CONCLUSIONS: This is a rare case of heterozygous mutation in the SFTPC gene (IVSI-7G>A) presenting as lipoid interstitial pneumonia.

1) Fan LL Chronic interstitial lung disease in children. Pediatr Pulmonology 1993;16:184-196.

DISCLOSURE: The following authors have nothing to disclose: Rizwana Popatia, Dawn Ericson

No Product/Research Disclosure Information

Children's Hospital, Boston, MA

Sign In to Access Full Content

MEMBER & INDIVIDUAL SUBSCRIBER

Want Access?

NEW TO CHEST?

Become a CHEST member and receive a FREE subscription as a benefit of membership.

Individuals can purchase this article on ScienceDirect.

Individuals can purchase a subscription to the journal.

Individuals can purchase a subscription to the journal or buy individual articles.

Learn more about membership or Purchase a Full Subscription.

INSTITUTIONAL ACCESS

Institutional access is now available through ScienceDirect and can be purchased at myelsevier.com.

Sign In to Access Full Content

MEMBER & INDIVIDUAL SUBSCRIBER

Want Access?

NEW TO CHEST?

Become a CHEST member and receive a FREE subscription as a benefit of membership.

Individuals can purchase this article on ScienceDirect.

Individuals can purchase a subscription to the journal.

Individuals can purchase a subscription to the journal or buy individual articles.

Learn more about membership or Purchase a Full Subscription.

INSTITUTIONAL ACCESS

Institutional access is now available through ScienceDirect and can be purchased at myelsevier.com.

Figures

Tables

References

NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

MEMBER & INDIVIDUAL SUBSCRIBER

Want Access?

NEW TO CHEST?

Become a CHEST member and receive a FREE subscription as a benefit of membership.

Individuals can purchase this article on ScienceDirect.

Individuals can purchase a subscription to the journal.

Individuals can purchase a subscription to the journal or buy individual articles.

Learn more about membership or Purchase a Full Subscription.

INSTITUTIONAL ACCESS

Institutional access is now available through ScienceDirect and can be purchased at myelsevier.com.

Related Content

Customize your page view by dragging & repositioning the boxes below.

Find Similar Articles
CHEST Journal Articles
  • CHEST Journal
    Print ISSN: 0012-3692
    Online ISSN: 1931-3543