Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant

Victor Acosta-Rivera; Jesus M Melendez-Montañez; Francisco Diaz-Sotomayor; Wilfredo De Jesús-Rojas

doi:10.7759/cureus.17422

Surfactant Protein C Deficiency in a Puerto Rican Adolescent With a Rare SFTPC Genetic Variant

Cureus. 2021 Aug 24;13(8):e17422. doi: 10.7759/cureus.17422. eCollection 2021 Aug.

Authors

Victor Acosta-Rivera^{1

2}, Jesus M Melendez-Montañez³, Francisco Diaz-Sotomayor⁴, Wilfredo De Jesús-Rojas^{5

4}

Affiliations

¹ Department of Internal Medicine, University of Massachusetts Medical School, Massachusetts, USA.
² Department of Internal Medicine, Ponce Health Sciences University, Ponce, PRI.
³ School of Medicine, Ponce Health Sciences University, Ponce, PRI.
⁴ Department of Pediatrics, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
⁵ Department of Pediatrics, Ponce Health Sciences University, Ponce, PRI.

Abstract

Surfactant protein C (SP-C) is a hydrophobic lipoprotein necessary for lowering alveolar surface tension and lung defense mechanisms. Defects in its function due to genetic mutations in the SFTPC gene have been increasingly identified in patients presenting with childhood interstitial lung disease. SFTPC mutations are inherited in an autosomal dominant pattern with reduced penetration and variable expressivity, although de novo mutations have also been documented. In this article, we present the case of an oxygen-dependent 13-year-old male with interstitial lung disease and severe pulmonary hypertension. Genetic analysis and lung biopsy confirmed the diagnosis of SP-C deficiency with the rare heterozygous mutation IVS4+2. To our knowledge, this is the first documented case of SP-C deficiency in the Puerto Rican population and the second worldwide with the IVS4+2 genetic mutation.

Keywords: childhood interstitial lung disease; digital clubbing; rare lung disease; sftpc mutations; surfactant protein c.

Publication types

Case Reports

Grants and funding

This research was funded by the Hispanic Center of Excellence, University of Puerto Rico School of Medicine, Grant Number: D34HP24463, U.S. Department of Health and Human Services, Health Resources and Services Administration, Bureau of Health Workforce.