摘要
目的探讨17β-羟基类固醇脱氢酶10(HSD10)病的临床诊断学特征。方法回顾性分析济宁市第一人民医院儿童康复科收治的1例HSD10病患儿临床资料,并复习文献。结果患儿临床表现为精神发育倒退、抽搐、水平性眼球震颤。颅脑磁共振、动态脑电图和血酰基肉碱分析、尿有机酸分析均未见明显异常,心肌酶示谷草转氨酶79.8 U/L、肌酸激酶221 U/L、肌酸激酶同工酶43.5 U/L、乳酸脱氢酶356 U/L、羟丁酸脱氢酶339 U/L;神经心理发育评估示中度智力低下,基因检测示患儿HSD17B10基因在外显子4发生c.388C>T(p.R130C)改变,确诊为HSD10病。结论HSD10病主要损害神经系统,表现为明显的精神运动发育迟滞;确诊依赖于基因检测,表现为HSD17B10基因突变。
Objective To explore the diagnostic features of 17β？Hydroxysteroid dehydrogenase 10 disease（HSD10 disease）.Methods The clinical data of a 7？months？old infantile who was diagnosed in the First People′s Hospital of Jining was retrospectively analyzed,and relevant literatures were reviewed.Results The boy was mainly presented with neurodegeneration, convulsion, and horizontal nystagmus. The cerebral magnetic resonance imaging and the ambulatory electroencephalogram were negative. The blood acylcarnitine and urinary organic acid analysis were normal. The concentrations of serum myocardial enzymes increased, including glutamic oxalocetic transaminase （ 79. 8U/L ） , creatine kinase （ 221U/L ） , creatine kinase isoenzyme MB （43.5U/L）,lactate dehydrogenase （356U/L）,hydroxybutyric dehydrogenase （339U/L）.The neurological development was moderate mental retardation.The diagnosis was confirmed by molecular genetic study of the gene HSD17B10. The patient was hemizygous for the previously described mutation p.R130C （c.388C〉T）.Conclusions HSD10 disease mainly damages the nervous system. Affected patients show a progressive neurodegenerative disease course. Confirmation of the diagnosis is based on the identification of a disease？causing mutation in the HSD17B10 gene.
出处
《中华诊断学电子杂志》
2015年第4期36-38,共3页
Chinese Journal of Diagnostics(Electronic Edition)
基金
山东省中医药项目(2013-309)
济宁市科技局项目(2013jnwk127)
