背景:液泡,E1酶,X-linked,自身炎症,体细胞(VEXAS)综合征是由泛素激活酶1(UBA1)基因突变引起的,其特征是自身炎症和血液系统疾病之间存在重叠.
方法:我们报告了一例67岁的日本男子接受腹膜透析(PD)的病例,该病例由VEXAS综合征引起的复发性无菌性腹膜炎。他出现了无法解释的发烧,头痛,腹痛,结膜充血,眼痛,耳廓疼痛,关节痛,和炎症性皮肤损伤。实验室研究显示,PD流出物中血清C反应蛋白浓度高,细胞计数增加。他接受了PD相关性腹膜炎的抗生素治疗,但这是不成功的。氟-18-氟脱氧葡萄糖(FDG)正电子发射断层扫描/计算机断层扫描图像显示他的左颞浅动脉有强烈的FDG摄取,鼻中隔,和双侧耳廓。工作诊断是巨细胞动脉炎,他每天口服泼尼松龙(PSL)15mg,反应良好。然而,由于症状突然发作,他无法将剂量逐渐减少到每天10毫克以下。自从Tocilizumab开始,他可以将PSL剂量减少到每天2毫克。他的外周血样本的Sanger测序显示UBA1基因突变(c.122T>C;p.Met41Thr)。我们最终诊断为VEXAS综合征。他患有VEXAS综合症,每天PSL为1mg,并且有浑浊的PD流出物。每天11mg的PSL剂量在几天内缓解了症状。
结论:认识到无菌性腹膜炎是VEXAS综合征的症状之一,并注意患者的全身表现是至关重要的。
BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.
METHODS: We reported a case of a 67-year-Japanese man receiving peritoneal dialysis (PD) who had recurrent aseptic peritonitis caused by the VEXAS syndrome. He presented with unexplained fevers, headache, abdominal pain, conjunctival hyperaemia, ocular pain, auricular pain, arthralgia, and inflammatory skin lesions. Laboratory investigations showed high serum C-reactive protein concentration and increased cell count in PD effluent. He was treated with antibiotics for PD-related peritonitis, but this was unsuccessful. Fluorine-18-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography images demonstrated intense FDG uptake in his left superficial temporal artery, nasal septum, and bilateral auricles. The working diagnosis was giant cell arteritis, and he was treated with oral prednisolone (PSL) 15 mg daily with good response. However, he was unable to taper the dose to less than 10 mg daily because his symptoms flared up. Since Tocilizumab was initiated, he could taper PSL dose to 2 mg daily. Sanger sequencing of his peripheral blood sample showed a mutation of the UBA1 gene (c.122 T > C; p.Met41Thr). We made a final diagnosis of VEXAS syndrome. He suffered from flare of VEXAS syndrome at PSL of 1 mg daily with his cloudy PD effluent. PSL dose of 11 mg daily relieved the symptom within a few days.
CONCLUSIONS: It is crucial to recognise aseptic peritonitis as one of the symptoms of VEXAS syndrome and pay attention to the systemic findings in the patients.