新生儿重症监护病房中遗传代谢病的临床特点及分析

Clinical features and analysis of inherited metabolic diseases in neonatal intensive care unit

目的提高临床医生对重症监护病房新生儿期发生的遗传代谢病的认识，提高早期诊断率。方法对2005年5月-2006年2月NICU中新生儿早期原因不明的严重酸中毒、高血钾、猝死、窒息等进行尿气相色谱-质谱仪检测；同时部分检测血乳酸、丙酮酸、血氨等。结果7例早期新生儿分别于出生时15小时、2天、3天、4天、6天发病，诊断为先天性丙酮酸代谢障碍1例、同型半胱氨酸血症1例、有机酸血症2例、戊二酸尿症Ⅱ型1例、酪氨酸血症1例、先天性肾上腺皮质增生症1例。结论NICU应警惕早期新生儿遗传代谢病，可利用目前的技术力量提高诊断率。

Objective To sublimate the cognition of inherited metabolic diseases（IED） and enhance the rate of early diagnosis. Methods Urine and blood samples of patient suspected IED such like severer metabohc acidosis, hyperkaliemia and sudden death were collected . in NICU from May,2005 to February ,2006 for gas chromatography-mass spectrometry analysis, and lactic acid, pyruvic acid, ammonia detection. Result Seven patients were diagnosed of IED （ one case of pyruvic acid dysbolism,one case of glutaric aciduria , one case of tyrosinemia, one case of homocysteinia, two cases of crganic acidemia, one case of congenital adrenal cortical hyperplasia）. The ages of onset were from just after birth to 6 days of life. Conclusion It is a highly significance of IED screening in NICU, which may increase the early diagnosis and improve the prognosis.