Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study
| Autor: | Souhaila El Gazzane MD, Amine Ichane MD, Chaimae Nahi MD, Khadija Mouaddine MD, Bouchra Chkirate MD, PhD, Aziza Guennoun MD, Najat Oulahiane MD, Hassan Ait Ouamar MD, PhD, Lamiaa Rouas MD, PhD |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | Global Pediatric Health, Vol 11 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2333-794X 2333794X |
| DOI: | 10.1177/2333794X241274752 |
| Popis: | Familial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the MEVF gene cause it. AA Amyloidosis is the most severe complication of FMF leading to chronic renal failure. We describe a rare pediatric case of a phenotype I familial Mediterranean fever with V726A heterozygous mutation. The diagnosis was made at chronic kidney disease. We discuss through this case the importance of the early diagnosis of FMF heterozygous children which is not usually evident in some phenotypes. It will surely avoid fatal complications, inappropriate therapeutic approaches and higher healthcare costs. |
| Databáze: | Directory of Open Access Journals |
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