UMMS Affiliation

Department of Medicine

Publication Date

2021-08-24

Document Type

Article

Disciplines

Medical Genetics | Pediatrics | Pulmonology | Respiratory Tract Diseases

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

Rights and Permissions

Copyright © 2021, Acosta-Rivera et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

DOI of Published Version

10.7759/cureus.17422

Source

Acosta-Rivera V, Melendez-Montañez JM, Diaz-Sotomayor F, De Jesús-Rojas W. 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. PMID: 34589332; PMCID: PMC8460488. Link to article on publisher's site

Journal/Book/Conference Title

Cureus

Related Resources

Link to Article in PubMed

PubMed ID

34589332

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

Share

COinS