新生儿遗传代谢病27例临床分析  

Clinical analysis of 27 cases of inherited metabolic disorders in neonates

作　　者：张慧琼[1] 甘明月[1] 敖当[1] 谭建新[1] 

机构地区：[1]广东医学院附属医院儿科,广东省湛江524001

出　　处：《中国医师杂志》2013年第12期1622-1624,共3页Journal of Chinese Physician

摘　　要：目的探讨新生儿遗传代谢病患者的临床特点，为实现早诊断早干预提供依据。方法回顾性分析本院27例新生儿遗传代谢病患儿的临床资料，总结其临床表现及实验室检查，分析诊治与预后。结果27例遗传代谢病患儿中，甲基丙二酸血症2例，枫糖尿病1例，苯丙酮尿症8例，戊二酸血症3例，肉碱缺乏症2例，低游离肉碱血症3例，粘多糖病2例，糖原累积症6例。本组患儿病死率为40．7％（11／27），5例在放弃治疗后死亡，6例在数月后死亡，患儿存活率为59．3％（16／27）；5例伴有智力障碍，生长发育落后，余11例生长发育无异常，2例已上幼儿园。结论掌握新生儿遗传代谢病临床特点，对不明原因的反应差、低血糖、反复呕吐、惊厥、呼吸不规则及代谢性酸中毒等高危儿及早行串联质谱分析，以早期诊断，早期干预可避免或减轻神经系统损伤等严重后遗症。Objective To investigate the clinical features of neonate inherited metabolic diseases, and to achieve diagnosis and interventions early. Methods The clinical data of 27 cases were analyzed retrospectively, their clinical manifestations and laboratory features were summarized, and the treatment and prognosis were analyzed. Results There were 2 cases of methylmalonic acidemia, 1 case of maple syrup urine disease, 8 cases of phenylketonuria, 3 cases of glutaric academia, 2 cases of carnitine deficiency, 3 cases of low free meat alkalemia, 2 cases of mucopolysaccharidosis, and 6 cases of Pompe＇s syndrome. The mortality rate was 40. 7% （ 11/27）, including 5 cases died after giving up treatment and 6 eases died after a few months. The survival rate was 59. 3% （ 16/27 ）, including 5 cases with mental and growth retardation and other 11 cases with normal growth, and two cases of them had been in kindergarten. Conclusions When a high-risk child was found with unexplained poor response, low blood sugar, repeated vomiting, con- vulsion, irregular breathing, and metabolic acidosis, tandem mass spectrometry analysis should be carried out in the early-stage for early-stage diagnosis and intervention to avoid or relieve nervous system damage.

关 键 词：代谢缺陷 先天性 婴儿 新生 质谱分析法 苯丙酮尿症 枫糖尿病 回顾性研究 预后 

分 类 号：R722.1[医药卫生—儿科]