Lupus & antiphospholipid syndrome
Ras/mitogen-activated protein kinase (Ras-MAPK) pathway in patients with lupus nephritis
Authors' conclusion
Kidney involvement may be the main feature of the clinical spectrum of RASopathy.
Study context
- Population
- Five unrelated patients with SLE carrying mutations associated with RASopathy
- Participants
- 5 unrelated patients
- Outcome
- Clinical and laboratory features of SLE patients with RASopathy-associated variants
Methodological detailswhole-exome/whole-genome sequencing, RNA sequencing, nephroseq database
- Whole-exome/whole-genome sequencing
- RNA sequencing
- Nephroseq database
Main finding
As reported in the abstract
- (Likely) pathogenic variants in four Ras-MAPK genes (NRAS p.G13D, ARAF p.R479C, KRAS p.V114A, PTPN11 p.R152H, NRAS p.G12S)
- 5
- Nephrotic syndrome
- 2/5
- Proteinuria and haematuria
- 2/5
- Acute kidney injury
- 1
- Rapidly progressive nephritic syndrome
- 1
- Mucocutaneous lesions
- 5/5
- Cardiac involvement
- 4/5
- Arthralgia
- 3/5
- Hypocomplementaemia
- 5/5
- aPL present
- 4/5
- Decreased regulatory T cells
- 3/3
- Pancytopenia
- 3/5
- Persistent monocytosis
- 2/5
Observational data: associations, not effects.
Further findings
Response to standard therapy
- Most patients responded well to standard therapy; the patient with NRAS p.G13D died
Original publication
Ras-MAPK pathway in patients with lupus nephritis. Lupus Sci Med. Published 18 March 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →