Berody Sandra, Galeotti Caroline, Koné-Paut Isabelle, Piram Maryam
Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.
Department of Pediatric Rheumatology, National referral centre for auto-inflammatory diseases (CEREMAI), CHU de Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.
Joint Bone Spine. 2015 Jul;82(4):240-4. doi: 10.1016/j.jbspin.2014.12.011. Epub 2015 Feb 9.
Mevalonate kinase deficiency (MKD) is an autosomic recessive auto-inflammatory disease caused by mutations of the MVK gene. MKD being a very rare disease, numerous misdiagnoses and medical referrals may precede the right diagnosis, amplifying the burden of the disease.
To evaluate the patient's medical referrals between the first symptom and the diagnosis of MKD and the diagnosis delay.
A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information from genetically confirmed patients with MKD regarding the first symptoms of the disease, the different diagnoses made previously, the treatments received, and the disease burden evaluated mainly by the number of hospitalizations.
Thirteen patients were analyzed. The mean age at onset was 9.5months (birth to 36months). The average diagnosis delay was 7.1years. Eleven of them were hospitalized at least 5 times before the establishment of the diagnosis. A wide variety of diseases had been suspected: systemic juvenile idiopathic arthritis, periodic fever aphtous stomatitis pharyngitis adenitis syndrome, other hereditary recurrent fever, vasculitis, connective tissue disease, inflammatory bowel disease, gastritis, infections and immunodeficiency. Before the right diagnosis, 9 patients received corticosteroids and 6 patients received non-steroidal-anti-inflammatory drugs. Half patients had received repeated antibiotics, one third had received intravenous immunoglobulin, and the others were treated with immunosuppressive drugs or hydroxychloroquine.
MKD is a serious disease still difficult to treat, however earlier accurate medical referral and care, by increasing physicians' awareness, is critical to improve both the disease course and quality of life.
甲羟戊酸激酶缺乏症（MKD）是一种由MVK基因突变引起的常染色体隐性自身炎症性疾病。MKD是一种非常罕见的疾病，在正确诊断之前可能会有许多误诊和医疗转诊，从而加重疾病负担。
评估患者从出现首个症状到MKD诊断期间的医疗转诊情况以及诊断延迟情况。
向法国儿科和成人风湿病学家发送问卷，以回顾性收集基因确诊的MKD患者关于该疾病的首个症状、先前做出的不同诊断、接受的治疗以及主要通过住院次数评估的疾病负担等信息。
分析了13例患者。发病时的平均年龄为9.5个月（出生至36个月）。平均诊断延迟为7.1年。其中11例在确诊前至少住院5次。曾怀疑过多种疾病：全身型幼年特发性关节炎、周期性发热性口疮性口炎咽炎腺炎综合征、其他遗传性复发性发热、血管炎、结缔组织病、炎症性肠病、胃炎、感染和免疫缺陷。在正确诊断之前，9例患者接受了皮质类固醇治疗，6例患者接受了非甾体抗炎药治疗。一半患者接受过反复抗生素治疗，三分之一接受过静脉注射免疫球蛋白治疗，其他患者接受了免疫抑制药物或羟氯喹治疗。
MKD是一种仍难以治疗的严重疾病，然而，通过提高医生的认识，更早地进行准确的医疗转诊和护理对于改善疾病进程和生活质量至关重要。
