Autoinflammatory & rare systemic diseases
A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signature
Authors' conclusion
We present a novel mutation in the TNFRSF1A gene associated with amyloidosis. Canakinumab is an effective treatment for individuals with this new likely pathogenic variant. Alterations in the metabolome were most prominent in the pathways related to arginine biosynthesis, tryptophan metabolism, and metabolism of cysteine and methionine, and seemed to be unaffected by treatment with canakinumab.
Study context
- Population
- Family with a novel TNFRSF1A mutation causing TNF receptor-associated periodic syndrome (TRAPS) with renal AA amyloidosis
- Exposure
- TRAPS patients vs healthy controls
- TRAPSn = 3
- Outcome
- TNFRSF1A variant in symptomatic family members; plasma metabolome of TRAPS patients vs healthy controls
Methodological detailsfamily case series, plasma metabolomics vs healthy controls (mass spectrometry)
- Family case series
- Plasma metabolomics vs healthy controls (mass spectrometry)
Main finding
As reported in the abstract
Metabolic compounds upregulated vs healthy controls
31
Metabolic compounds downregulated vs healthy controls
35
Metabolic changes in all three TRAPS patients seemed independent of canakinumab treatment and subsequent remission
3
Observational data: associations, not effects.
Further findings
Proteinuria in one patient with suspected renal amyloidosis
- Near normalization of proteinuria under treatment
Original publication
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