幼儿异戊酸血症临床特征分析.docVIP

幼儿异戊酸血症临床特征分析 　　[摘要]异戊酸血症是常见的遗传代谢性疾病之一，在某些代谢压力下，可以急性发作，病情迅速恶化甚至猝死。随着代谢病诊断水平的提高，特别是开展了血氨基酸、尿有机酸分析以来，早期采取及时正确的治疗措施，可以使大多患者度过危险期而避免死亡或伤残的发生，明显改善预后。本文回顾性分析异戊酸血症病例1例，结合病史、临床特征、实验室检查及相关文献探讨幼儿异戊酸血症的特点。本案例成功的关键是尽早考虑到了遗传代谢性疾病的可能性，完善相关辅助检查，以最快的速度明确诊断，给予了相应的处理。幼儿异戊酸血症易被误诊、漏诊，治疗该疾病最好的办法就是早诊断、早治疗，以改善预后。 　　[关键词]幼儿异戊酸血症；血小板减少；异戊酸铺酶A脱氢酶；漏诊 　　[中图分类号] R725.8 [文献标识码] A [文章编号] 1674-4721（2016）11（a）-0101-03 　　[Abstract]Isovaleric acidaemia （IVA） is one of the common inherited metabolic diseases.It can attack acutely，rapidly deteriorate and even suddenly die under certain metabolic stress.With the improvement of the diagnostic level of metabolic diseases，especially the analysis of blood amino acids and the analysis of urinary organic acids，early and correct treatment can make most patients through the risk of death or disability to avoid the occurrence of significant improvement in the prognosis.One case of IVA was given retrospective analysis，combined history，clinical features，laboratory tests and related literature to discuss the characteristics of children with IVA，the key to the success of this case was the first consideration of the possibility of genetic metabolic disease，gave the relevant auxiliary examination and a clear diagnosis by fastest speed.IVA of Children is easy to be misdiagnosed，missed diagnosis，the best way to cure the disease is early diagnosis and early treatment，to improve the prognosis. 　　[Key words]IVA of Children；Thrombocytopenia；isova leryleryl-CoA dehydrogenase；Missed diagnosis 　　??戊酸血症（isovaleric acidaemia，IVA）是指由于先天缺乏亮氨酸代谢酶（异戊酰辅酶A脱氢酶）致血中异戊酸量增加或从尿中大量排出异戊酸甘氨酸。剧烈呕吐，重症的有酮体酸中毒并伴有间歇性嗜眠昏睡的发作是其主要临床表现。患者由于异戊酸蓄积，呼气时及体表均有恶臭。该疾病虽然发病率低，但随着临床检测技术的提高，也加深了临床医生对该疾病的认识，诊断率也逐渐提高。 　　1临床资料 　　患儿，男，2岁零9个月，汉族。G1P1，足月、顺产，生产史无异常，父母体健，非近亲结婚，家族中无遗传代谢病史，母孕期无疾病史，患儿有1姐，健康。生后有反复呕吐病史，曾在40日龄时行幽门松解术，术后呕吐无明显好转，近1年来，每月呕吐发作1次，每次持续5～6 d。发作时口腔有反腐气味，伴酸中毒，尿酮体、尿酸升高，血白细胞及血小板下降，低钠、低钾血症，无多饮、多尿。当地医院予止吐、纠酸、补液等治疗后症状可缓解。平素厌食蛋白质，喜食素菜及谷类，目前智力相当于1岁正常小儿。 　　此次因“反复呕吐4 d，意识不清3 d”于2015年12月收入院。体检：T 36.2℃，P