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Updated: May 12, 2026

Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
Published on: June 8, 2022
Renal Disease in ROSAH Syndrome Masquerading as Lupus Nephritis: A Case Report and Cohort Analysis
Anirban Ganguli1, Manisha Uppal2, Shigeaki Umeda3
1Clinical Nephrology Service, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD.
ROSAH syndrome, a rare autoinflammatory disorder, can cause kidney disease and be misdiagnosed as lupus. This study highlights a case and assesses chronic kidney disease prevalence in ROSAH patients.
Area of Science:
- Genetics
- Immunology
- Nephrology
Background:
- ROSAH syndrome is a rare, autosomal dominant autoinflammatory disorder.
- It is caused by ALPK1 gain-of-function mutations, leading to NF-κB activation and multisystemic disease.
- Patients are often misdiagnosed with immune-mediated conditions like lupus nephritis due to overlapping symptoms.
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