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Diagnosis and treatment of multisystem amyloidosis associated with SGPL1 mutation: A case report and review of the literature.

Medicine - 2 Jan 2026

Chen Yunfen, Liao Yue, Ding Mingxia, Chen Yinghua, Chen Ya, Yu Bangneng, Fan Xiuying, Yi Xuedong, He Yihuai, Luo Yawen

Abstract excerpt

RATIONALE: Amyloidosis is a rare, clinically heterogeneous disease, which makes its diagnosis difficult. The relationship between amyloidosis and gene mutations is insufficiently understood. We report a case of sphingosine-1-phosphate lyase 1 (SGPL1) mutation-related amyloidosis, and review the related literature. PATIENT CONCERNS: A 53-year-old man was admitted to our hospital with a 5-month history of renal...

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Identifiers

PMID: 41496093
DOI: 10.1097/MD.0000000000046653
PMCID: PMC12778122

Genes

SGPL1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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