Clinical characteristics of SFTPC gene mutations in children: a single-center experience
The c.218T > C (p.Ile73Thr) variant represents a hotspot mutation in the SFTPC gene, clinically manifesting as ILDs. The therapeutic efficacy of Hch in managing ILDs has been increasingly recognized in clinical practice. BAL is assuming a growing role in both the diagnosis and treatment of SFTPC-related pediatric ILD. Given the heterogeneity of mutation sites, the pathogenic mechanisms underlying lung injury may vary among patients, underscoring the need for personalized diagnostic and therapeutic strategies tailored to specific genetic profiles.
Authors
- Guimei Zheng (ORCID: https://orcid.org/0000-0001-9779-6014)
- Tongyu Yang
- Feizhou Zhang
- Lanfang Tang (ORCID: https://orcid.org/0000-0002-7994-7066)
- Lei Wu (ORCID: https://orcid.org/0000-0003-1875-7880)
- Dehua Yang (ORCID: https://orcid.org/0000-0003-3028-3243)
- Guohong Zhu
- Xuan Jia (ORCID: https://orcid.org/0000-0001-8207-5716)
Institutions
- Children's Hospital of Zhejiang University (CN)
- Zhejiang Lab (CN)
Publication Details
- Journal
- The Italian Journal of Pediatrics/Italian journal of pediatrics
- Published
- 2025-09-01
- DOI
- https://doi.org/10.1186/s13052-025-02101-9
- Primary Topic
- Neonatal Respiratory Health Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China