Souhaila El Gazzane, Amine Ichane, Chaimae Nahi, Khadija Mouaddine, Bouchra Chkirate, Aziza Guennoun, Najat Oulahiane, Hassan Ait Ouamar, Lamiaa Rouas
{"title":"导致肾衰竭的杂合子 MEFV 基因突变:病例研究。","authors":"Souhaila El Gazzane, Amine Ichane, Chaimae Nahi, Khadija Mouaddine, Bouchra Chkirate, Aziza Guennoun, Najat Oulahiane, Hassan Ait Ouamar, Lamiaa Rouas","doi":"10.1177/2333794X241274752","DOIUrl":null,"url":null,"abstract":"<p><p>Familial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the <i>MEVF</i> 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 <i>V726A</i> 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.</p>","PeriodicalId":12576,"journal":{"name":"Global Pediatric Health","volume":null,"pages":null},"PeriodicalIF":1.4000,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11363043/pdf/","citationCount":"0","resultStr":"{\"title\":\"Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study.\",\"authors\":\"Souhaila El Gazzane, Amine Ichane, Chaimae Nahi, Khadija Mouaddine, Bouchra Chkirate, Aziza Guennoun, Najat Oulahiane, Hassan Ait Ouamar, Lamiaa Rouas\",\"doi\":\"10.1177/2333794X241274752\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Familial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the <i>MEVF</i> 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 <i>V726A</i> 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.</p>\",\"PeriodicalId\":12576,\"journal\":{\"name\":\"Global Pediatric Health\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2024-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11363043/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Global Pediatric Health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2333794X241274752\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Global Pediatric Health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2333794X241274752","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study.
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.