Ras-MAPK pathway in patients with lupus nephritis - PubMed
8 days ago
- #Ras-MAPK pathway
- #lupus nephritis
- #RASopathy
- Five patients with SLE carried mutations associated with RASopathy, affecting the Ras-MAPK pathway.
- Identified pathogenic variants included NRAS, ARAF, KRAS, and PTPN11 mutations.
- Kidney injury was a primary feature, presenting as nephrotic syndrome, proteinuria, and haematuria.
- Other clinical features included mucocutaneous lesions, cardiac involvement, and arthralgia.
- Laboratory abnormalities included hypocomplementaemia, antiphospholipid antibodies, and decreased regulatory T cells.
- Kidney biopsy confirmed lupus nephritis; most patients responded well to standard therapy except one with NRAS p.G13D mutation who died.
- The Ras-MAPK pathway was activated in PBMC and kidneys of patients with LN, indicated by altered gene expression.
- Genetic screening is recommended for early-onset lupus patients due to potential RASopathy involvement.