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儿童期发作性疾病家系性地中海热患儿及其同胞的神经和神经发育症状

Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings.

机构信息

Department of Pediatrics, Hadassah-Hebrew University Medical Center, POB 24035, 91240, Mount ScopusJerusalem, Israel.

Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

出版信息

Eur J Pediatr. 2022 Mar;181(3):973-978. doi: 10.1007/s00431-021-04286-7. Epub 2021 Oct 15.

Abstract

Familial Mediterranean fever is a common autoinflammatory disease characterized by periodic attacks of fever and serositis. There are few reports describing neurological symptoms in patients with FMF. The aim of this study was to systematically assess the neurologic and developmental involvement in pediatric patients with FMF. Between the years 2016 and 2019, parents of children with FMF were asked to complete a questionnaire regarding the presence of neurological and developmental symptoms in their children with and without FMF. Demographic data, clinical characteristics, and disease course of FMF patients were collected from the medical charts. Neurodevelopmental manifestations were compared between the children with FMF and their siblings. A total of 205 children were enrolled (11.6 ± 4.7 years of age): 111 children with FMF and 94 healthy siblings in the control group. Neurological morbidity was frequently reported in children with FMF: 44 (40%) had recurrent headaches, 31 (28%) ADHD symptoms, 27 (24%) learning disabilities, and 10 (9%) febrile convulsions. Headaches and febrile convulsions were significantly more prevalent in children with FMF as compared to their siblings (ps < 0.05). ADHD and learning disabilities were associated with poor adherence to colchicine treatment.Conslusions: The present study found an increased prevalence of ADHD, learning disabilities, headaches, and febrile seizures in children with FMF. The findings underscore the importance of addressing the neurodevelopmental domain in children with FMF. In addition, detection and treatment of ADHD and learning disabilities could improve adherence with therapy and control of the underlying disease. What is Known: • Familial Mediterranean fever (FMF) is the most common inherited auto-inflammatory disease, characterized by recurrent attacks of fever, serositis, and arthritis. • Some previous case reports also described rare neurological manifestations in children with FMF. What is New: • The study found an increased prevalence of headaches, febrile seizures, ADHD, and learning disabilities, in children with FMF. • The findings underscore the importance of addressing the neurological domain in this population, which could potentially improve adherence with therapy and control of the underlying disease.

摘要

家族性地中海热是一种常见的自身炎症性疾病,其特征是周期性发热和浆膜炎发作。有少数报道描述了 FMF 患者的神经系统症状。本研究的目的是系统评估儿科 FMF 患者的神经和发育受累情况。在 2016 年至 2019 年间,我们要求 FMF 患儿的父母填写一份问卷,了解其子女是否存在 FMF 相关的神经系统和发育症状。从病历中收集 FMF 患者的人口统计学数据、临床特征和疾病病程。比较 FMF 患儿与无 FMF 兄弟姐妹的神经发育表现。共纳入 205 名儿童(11.6±4.7 岁):111 名 FMF 患儿和 94 名健康对照组的兄弟姐妹。FMF 患儿常报告有神经系统疾病:44 例(40%)有复发性头痛,31 例(28%)有 ADHD 症状,27 例(24%)有学习障碍,10 例(9%)有热性惊厥。与无 FMF 的兄弟姐妹相比,FMF 患儿的头痛和热性惊厥更为常见(p<0.05)。ADHD 和学习障碍与不遵医嘱使用秋水仙碱治疗有关。结论:本研究发现 FMF 患儿的 ADHD、学习障碍、头痛和热性惊厥发病率较高。这些发现强调了在 FMF 患儿中关注神经发育领域的重要性。此外,ADHD 和学习障碍的发现和治疗可以提高治疗依从性,控制潜在疾病。已知:•家族性地中海热(FMF)是最常见的遗传性自身炎症性疾病,其特征是反复发热、浆膜炎和关节炎发作。•一些之前的病例报告也描述了 FMF 患儿罕见的神经系统表现。新发现:•本研究发现 FMF 患儿头痛、热性惊厥、ADHD 和学习障碍的发病率较高。•这些发现强调了在该人群中关注神经领域的重要性,这可能有助于提高治疗依从性,控制潜在疾病。

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