El Gazzane Souhaila, Ichane Amine, Nahi Chaimae, Mouaddine Khadija, Chkirate Bouchra, Guennoun Aziza, Oulahiane Najat, Ait Ouamar Hassan, Rouas Lamiaa
Pediatric Rheumatology and Internal Medicine Department, Children's Hospital, Ibn Sina University Hospital Center, Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morocco.
Pediatric Nephrology Department, Children's Hospital, Ibn Sina University Hospital Center, Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morocco.
Glob Pediatr Health. 2024 Aug 28;11:2333794X241274752. doi: 10.1177/2333794X241274752. eCollection 2024.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder, particularly common in the Mediterranean area. Mutations in the 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 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.
家族性地中海热（FMF）是一种常染色体隐性疾病，在地中海地区尤为常见。该疾病由该基因的突变引起。AA淀粉样变性是FMF最严重的并发症，可导致慢性肾衰竭。我们描述了一例罕见的儿科病例，该病例为I型家族性地中海热，存在杂合突变。诊断时患者已患有慢性肾病。我们通过该病例讨论了对FMF杂合子儿童进行早期诊断的重要性，因为在某些表型中这种诊断通常并不明显。这肯定能避免致命并发症、不适当的治疗方法以及更高的医疗成本。
