Clinical characteristics of SFTPC gene mutations in children: a single-center experience.

ABSTRACT:

Background

In pulmonary surfactants, surfactant protein C (SP-C) plays a critical role in regulating surface tension at the air-liquid interface of alveoli, primarily due to its robust hydrophobic property. Genetic mutations in the SP-C gene can compromise its structural integrity, thereby impairing its functional efficiency in surface tension modulation.

Method

A retrospective analysis was performed on 11 pediatric patients harboring SP-C gene mutations who were admitted to our medical center between June 2014 and June 2024.

Results

11 pediatric patients with heterozygous SFTPC gene mutations were identified at our center. The age of onset spanned from birth to 5 years 2 months. Genetic analysis revealed that 9 patients carried the same SFTPC gene mutation at c.218T 

SUBMITTER: Yang T 

PROVIDER: S-EPMC12403953 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature