Diagnosis and treatment of multisystem amyloidosis associated with SGPL1 mutation: A case report and review of the literature
SGPL1 mutation may cause multisystem amyloidosis by disrupting S1P homeostasis and increasing monoclonal IGA-κ protein production, leading to amyloidosis. This case highlights the importance of genetic screening and an improved understanding of SGPL1 gene mutations.
Authors
- Yinghua Chen (ORCID: https://orcid.org/0000-0001-7268-9108)
- Xuedong Yi
- Ya Chen (ORCID: https://orcid.org/0000-0001-7643-919X)
- Xiuying Fan (ORCID: https://orcid.org/0009-0001-3382-3789)
- YaWen Luo
- Y. He (ORCID: https://orcid.org/0009-0009-8662-356X)
- Yue Liao
- Bangneng Yu
- Mingxia Ding
- Yunfen Chen
Institutions
- Zunyi Medical University (CN)
- First People’s Hospital of Zunyi (CN)
- Affiliated Hospital of Zunyi Medical College (CN)
Publication Details
- Journal
- Medicine
- Published
- 2026-01-02
- DOI
- https://doi.org/10.1097/md.0000000000046653
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00