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Case Reports in Pulmonology
Volume 2017, Article ID 9541419, 6 pages
Case Report

Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation

1Department of Pulmonary Medicine, Mayo Clinic, Jacksonville, FL, USA
2Department of Transplant Medicine, Mayo Clinic, Jacksonville, FL, USA
3Department of Laboratory Medicine and Pathology, Mayo Clinic, Jacksonville, FL, USA
4Eudowood Neonatal Pulmonary Division, Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA

Correspondence should be addressed to Norlalak Jiramethee; moc.em@anij_rd

Received 15 May 2017; Revised 28 July 2017; Accepted 3 October 2017; Published 9 November 2017

Academic Editor: Coline van Moorsel

Copyright © 2017 Norlalak Jiramethee et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Familial interstitial lung disease (ILD) is defined as presence of ILD in 2 or more family members. Surfactant protein C (SFTPC) gene mutations are rare, but well-known cause of familial ILD. We reported a 20-year-old male, who was referred for lung transplantation. He was symptomatic at age 3 and underwent surgical lung biopsy at age 6, which revealed a nonspecific interstitial pneumonia (NSIP) pattern. Genetic workup revealed a novel SFTPC mutation in the first intron with a C to A transversion. At age 21, he underwent bilateral lung transplantation. Explanted lung histology suggested NSIP. In addition there was pulmonary neuroendocrine cell (PNEC) hyperplasia and carcinoid tumorlets. His mother had undergone lung transplantation several years earlier, and her explanted lung showed similar pathology. SFTPC mutations are inherited in an autosomal dominant pattern. Various types of ILD have been associated with SFTPC mutation including NSIP, usual interstitial pneumonia (UIP), and desquamative interstitial pneumonia (DIP). PNEC hyperplasia has been described to occur in association with lung inflammation but has not been previously described with familial ILD associated with SFTPC mutation.