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Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study.
Souhaila El Gazzane1, Amine Ichane1, Chaimae Nahi1
1Pediatric Rheumatology and Internal Medicine Department, Children's Hospital, Ibn Sina University Hospital Center, Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morocco.
Familial Mediterranean Fever (FMF), a genetic disorder, can lead to severe kidney complications like AA amyloidosis. Early diagnosis in children, even with rare mutations, is crucial to prevent serious health issues and reduce healthcare costs.
Area of Science:
- Genetics and Molecular Biology
- Nephrology
- Pediatrics
Background:
- Familial Mediterranean Fever (FMF) is an autosomal recessive inflammatory disorder prevalent in Mediterranean populations.
- Mutations in the MEVF gene are the cause of FMF.
- AA amyloidosis, a severe complication of FMF, frequently results in chronic renal failure.
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