Souali Manal, Sakhi Asmaa, Benbrahim Ansari Ghita, Mikou Nabiha, Bousfiha Ahmed Aziz, Bouayed Kenza
Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
Pediatric Rheumatology and Internal Medicine Unit, A. Harouchi Mother and Child Hospital, CHU Ibn Rochd, Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco.
Rheumatol Adv Pract. 2023 Jan 9;7(1):rkad001. doi: 10.1093/rap/rkad001. eCollection 2023.
Auto-inflammatory diseases (AIDs) result from mutations in genes of the innate immune system leading to periodic multisystemic inflammation. We aimed to describe the clinical, biological and molecular features (when available) and outcomes of Moroccan patients with AIDs.
Patient data were collected retrospectively and analysed over a 13-year period.
Among 30 patients, 60% had FMF, 16% mevalonate kinase deficiency (MKD) and 24% other AIDs. The mean age at first consultation was 6.9 years, and the mean diagnostic delay was 3 years. Consanguinity was reported in 16 cases. IgA vasculitis was associated with 33% of FMF patients, in whom the main clinical features were fever (88.8%), abdominal pain (100%), arthralgias (88.8%) and arthritis (50%), and the most frequent mutation was M694V (66%). All FMF patients were treated with colchicine. Most MKD patients were confirmed by elevated urinary mevalonic acid levels, and four of five MKD patients received targeted therapy. Chronic recurrent osteomyelitis patients were confirmed by radiological and histological analysis. Two cases of Marshall syndrome were diagnosed according to validated criteria. A case of familial pustular psoriasis was diagnosed based on histological analysis and a patient with Muckle-Wells syndrome by clinical features. The outcome was favourable in 76%, partial in 13%, and three deaths were reported.
FMF and MKD are the most reported diseases. AIDs are probably underestimated because they are unknown to clinicians. The aim of this work is to raise awareness among paediatricians about AIDs and create a network for best practice.
自身炎症性疾病（AIDs）是由先天性免疫系统基因发生突变导致周期性多系统炎症引起的。我们旨在描述摩洛哥AIDs患者的临床、生物学和分子特征（如可获得）及预后情况。
回顾性收集患者数据，并进行了为期13年的分析。
30例患者中，60%患有家族性地中海热（FMF），16%患有甲羟戊酸激酶缺乏症（MKD），24%患有其他AIDs。首次就诊时的平均年龄为6.9岁，平均诊断延迟为3年。16例患者有近亲结婚史。33%的FMF患者合并IgA血管炎，这些患者的主要临床特征为发热（88.8%）、腹痛（100%）、关节痛（88.8%）和关节炎（50%），最常见的突变是M694V（66%）。所有FMF患者均接受秋水仙碱治疗。大多数MKD患者通过尿中甲羟戊酸水平升高得以确诊，5例MKD患者中有4例接受了靶向治疗。慢性复发性骨髓炎患者通过影像学和组织学分析得以确诊。根据验证标准诊断出2例马歇尔综合征。1例家族性脓疱型银屑病根据组织学分析确诊，1例穆克-韦尔斯综合征患者根据临床特征确诊。76%的患者预后良好，13%为部分缓解，并报告了3例死亡病例。
FMF和MKD是报告最多的疾病。AIDs可能未得到充分认识，因为临床医生对此并不了解。这项工作的目的是提高儿科医生对AIDs的认识，并建立一个最佳实践网络。
