导致肾衰竭的杂合子 MEFV 基因突变:病例研究。

IF 1.4 Q3 PEDIATRICS Global Pediatric Health Pub Date : 2024-08-28 eCollection Date: 2024-01-01 DOI:10.1177/2333794X241274752
Souhaila El Gazzane, Amine Ichane, Chaimae Nahi, Khadija Mouaddine, Bouchra Chkirate, Aziza Guennoun, Najat Oulahiane, Hassan Ait Ouamar, Lamiaa Rouas
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引用次数: 0

摘要

家族性地中海热(FMF)是一种常染色体隐性遗传疾病,在地中海地区尤为常见。MEVF 基因突变导致该病。AA 淀粉样变性是 FMF 最严重的并发症,可导致慢性肾功能衰竭。我们描述了一例表型为 I 型家族性地中海热并伴有 V726A 杂合突变的罕见儿科病例。诊断结果是慢性肾病。我们通过这个病例讨论了早期诊断 FMF 杂合型儿童的重要性,因为在某些表型中,早期诊断通常并不明显。这必将避免致命的并发症、不恰当的治疗方法和更高的医疗费用。
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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.

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来源期刊
Global Pediatric Health
Global Pediatric Health Nursing-Pediatrics
CiteScore
2.20
自引率
0.00%
发文量
105
审稿时长
12 weeks
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