Characteristics of Siblings with Familial Mediterranean Fever: Single-Center Experience

被引:0
作者
Aydin, Elif Arslanoglu [1 ]
Baglan, Esra [1 ]
Bagrul, Ilknur [1 ]
Yayla, Emine Nur Sunar [1 ]
Kocamaz, Nesibe Gokce [1 ]
Ozdel, Semanur [1 ]
机构
[1] Ankara Etlik City Hosp, Dept Pediat Rheumatol, Ankara, Turkiye
来源
TURKISH ARCHIVES OF PEDIATRICS | 2025年 / 60卷 / 01期
关键词
Familial Mediterranean feverMEFV; sibling; twin; CHILDREN; MUTATIONS; PHENOTYPE; GENOTYPE;
D O I
10.5152/TurkArchPediatr.2025.24210
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Objective: Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease. The characteristics of siblings with FMF have not been described in large cohorts up to now. This study aimed to examine the features of siblings with FMF. Materials and Methods: This was a retrospective, cross-sectional study. Patients were divided into 2 groups according to the time of diagnosis (group I, the child diagnosed first in the family, and group II, the sibling diagnosed later). Results: A total of 143 siblings (65 families) with FMF were included in the study. Seventy-two percent of the patients had the same genetic mutation as their siblings. Despite having the same genetic mutation, 59% of the patients had different attack symptoms from their siblings. In 56% of the patients, the Pras disease severity score and in 45% of the patients, the response to colchicine treatment differed from their siblings with the same mutation. Fever and abdominal pain were statistically significantly more frequent in group I than in group II (P = .032). The age of disease onset in group I was statistically lower than in group II (P = .031). Genetic mutations, attack symptoms, and colchicine response were the same in twin pairs. The age of disease onset and age at diagnosis were also the same in half of the twin pairs. Conclusion: Parents of children diagnosed with FMF should be informed of all the symptoms of FMF disease and that siblings may present with different clinical findings.
引用
收藏
页码:57 / 62
页数:125
相关论文
共 50 条
  • [31] The analysis of genotype-phenotype correlation in familial Mediterranean fever
    Ozturk, Kubra
    Cakan, Mustafa
    PEDIATRICS INTERNATIONAL, 2022, 64 (01)
  • [32] Clinical Characteristics of Intussusception with Surgical Reduction: a Single-Center Experience with 568 Cases
    Hu, Jiajie
    Liu, Miaoqing
    Yu, Xiangbo
    Xia, Qiongzhang
    Wang, Ke
    Guo, Shikun
    Chen, Xiaoming
    JOURNAL OF GASTROINTESTINAL SURGERY, 2019, 23 (11) : 2255 - 2262
  • [33] Characteristics and Outcome of Liver Transplantation in Children with Alagille Syndrome: A Single-center Experience
    Lee, Chi-Ning
    Tiao, Mao-Meng
    Chen, Hung-Jen
    Concejero, Allan
    Chen, Chao-Long
    Huang, Ying-Hsien
    Pediatrics and Neonatology, 2014, 55 (02) : 135 - 138
  • [34] Pregnancy outcome in women with familial Mediterranean fever
    Nabil, H.
    Zayed, A.
    State, O.
    Badawy, A.
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2012, 32 (08) : 756 - 759
  • [35] Predictors of AA amyloidosis in familial Mediterranean fever
    Mukhin, Nikolay A.
    Kozlovskaya, Lidiya V.
    Bogdanova, Marina V.
    Rameev, Vilen V.
    Moiseev, Sergey V.
    Simonyan, Armine Kh.
    RHEUMATOLOGY INTERNATIONAL, 2015, 35 (07) : 1257 - 1261
  • [36] Amyloidosis and Glomerular Diseases in Familial Mediterranean Fever
    Siligato, Rossella
    Gembillo, Guido
    Calabrese, Vincenzo
    Conti, Giovanni
    Santoro, Domenico
    MEDICINA-LITHUANIA, 2021, 57 (10):
  • [37] Familial Mediterranean Fever in the World
    Ben-Chetrit, Eldad
    Touitou, Isabelle
    ARTHRITIS CARE & RESEARCH, 2009, 61 (10) : 1447 - 1453
  • [38] Familial Mediterranean fever and asthma
    Tsur, Avishai M.
    Watad, Abdulla
    Gendelman, Omer
    Nissan, Daniel
    Cohen, Arnon D.
    Amital, Howard
    RHEUMATOLOGY, 2021, 60 (12) : 5642 - 5646
  • [39] Familial Mediterranean fever in 2020
    Savey, Lea
    Grateau, Gilles
    Georgin-Lavialle, Sophie
    NEPHROLOGIE & THERAPEUTIQUE, 2021, 17 : 119 - 125
  • [40] An Update on Familial Mediterranean Fever
    Lancieri, Maddalena
    Bustaffa, Marta
    Palmeri, Serena
    Prigione, Ignazia
    Penco, Federica
    Papa, Riccardo
    Volpi, Stefano
    Caorsi, Roberta
    Gattorno, Marco
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (11)