甲羟戊酸尿症1例报道并文献复习  

Mevalonic aciduria:one case report and literature review

作　　者：李秀珍 刘丽 程静 张文 周志红 毛晓健 黄永兰 

机构地区：[1]广州市妇女儿童医疗中心内分泌遗传代谢科,广州510623

出　　处：《中国实用儿科杂志》2012年第1期62-65,共4页Chinese Journal of Practical Pediatrics

基　　金：广东省科技厅计划项目(2004B36001040);"十一五"国家科技支撑计划项目(2006BAI05A07)

摘　　要：目的 报道1例甲羟戊酸尿症(MVA)患儿的临床特点、诊断、治疗及随访,以提高对该病的认识。方法 收集2006年7月于广州市妇女儿童医疗中心就诊的1例患儿的临床资料,进行分析并长期随防,复习文献总结分析其临床特点、诊疗及预后。结果 患儿男,6岁6个月,以反复发热,伴有淋巴结、肝脾大为主要临床表现,血沉增快,超敏C反应蛋白、白细胞计数、血IgA均增高,尿液气相色谱质谱联用技术(GC/MS)检测显示甲羟戊酸排泄明显增高,给予辅酶Q10、维生素C及维生素E等治疗,随诊4年8个月,发热发作渐有减少,约1～2次/月,伴有紫癜样皮疹、关节痛反复发作,淋巴结、肝脾大无进行性加重,智力轻度低下。结论 临床对不明原因反复发热患者,尤其是合并有淋巴结、肝脾大或神经系统症状时需要警惕MVA可能,进一步做尿GC/MS分析等早期诊断,以避免误诊误治。本病目前主要是对症治疗,部分患儿发热随年龄增长有减少趋势。Objective To report one case of mevalonic aciduria （MVA） in China and its outcomes of long-term follow-up. Methods The clinical features, treatment and follow-up data of a case diagnosed as MVA in Guangzhou Women and Children＇ s Medical Center was analyzed, and related literature was reviewed. Results This 6-year and 6-month old boy presented with recurrent episodes of fever, lymphadenopathy, and hepatosplenomegaly. Laboratory tests revealed moderate elevation of erythrocyte sedimentation rate, C-reactive protein, leukocytes and serum IgA. Remarkable elevations of urinary mevalonic a6id were confirmed by gas chromatography/mass spectrometry （GC/MS） analysis. After intermittent maintenance therapy with Coenzyme Q10, Vitamin C and E for 4 years and 8 months, recurrence of fever gradually diminished over the years but still occurred 1 ~ 2 times/month accompanied .by rash and painful joint. Conclusion MVA should be suspected in patients with recurrent episodes of fever combined with lymphadenopathy, hepatosplenomegaly and nervous system symptoms. Urinary organic acid analysis with GC/MS is critical to the early diagnosis.

关 键 词：甲羟戊酸尿症 甲羟戊酸酶 高IgD综合征 

分 类 号：R72[医药卫生—儿科]