儿童系统性红斑狼疮并低磷酸酶血症1例

Case report of pediatric systemic lupus erythematosus combined with hypophosphatasia

对2015年12月吉林大学第二医院儿科收治的1例系统性红斑狼疮(SLE)并低磷酸酶血症(HPP)患儿的临床资料进行回顾性分析。患儿, 男, 10岁, 因发热伴颜面皮疹4 d入院。既往确诊HPP 7年。临床表现为骨骼及牙齿发育异常、口腔溃疡、颊部红斑、肾脏病变, 实验室检查发现血清碱性磷酸酶水平低下, 全血细胞减少, 抗核抗体(ANA)1∶1 000, 抗双链DNA抗体阳性, 抗心磷脂抗体阳性, 补体C3、C4下降, 诊断为SLE, 予糖皮质激素、免疫抑制剂及对症治疗后, 病情好转出院, 定期随诊, 于确诊SLE 2年后死亡。SLE并HPP临床极为罕见, 症状上可有重叠, 需注意鉴别。

The clinical data of a child with systemic lupus erythematosus(SLE)and hypophosphatasia(HPP)admitted to the Department of Pediatrics,the Second Hospital of Jilin University in December 2015 were retrospectively analyzed.The patient was a 10-year-old boy who was hospitalized because of fever and facial rashes in the past 4 days.He had a history of HPP for 7 years.His clinical manifestations included skeletal and dental dysplasia,oral ulcers,buccal erythema and renal lesions.Laboratory examination showed a low level of serum alkaline phosphatase,whole blood cell count decreased,antinuclear antibody(ANA)1∶1000,anti-double strand DNA antibodies positive,anticardiolipin antibodies positive,complement 3(C3)and C4 decreased.Therefore,he was diagnosed with SLE.After glucocorticoid,immunosuppressant and symptomatic treatment,the child′s condition improved and he discharged from the hospital.He was followed up regularly,and died 2 years after the diagnosis of SLE.SLE complicated with HPP is extremely rare in clinical practice,and the symptoms may overlap.Hence these two diseases should be differentiated.