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《Chinese Journal of Practical Pediatrics》 2012-01
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Mevalonic aciduria:one case report and literature review

LI Xiu-zhen,LIU Li,CHENG Jing,ZHANG Wen,ZHOU Zhi-hong,MAO Xiao-jian,HUANG Yong-lan.Guangzhou Women and Children's Medical Center,Guangzhou 510623,China  
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 acid 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.
【Fund】: 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)
【CateGory Index】: R725.8
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