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目的:了解南京地区高危婴幼儿遗传性代谢疾病的发病率,并对患儿的临床特点进行分析。方法:对288例疑似遗传代谢病高危婴幼儿,采用气相色谱-质谱方法(GC/MS)进行尿液化学分析。结果:288例患儿中尿液异常者32例(11.1%),其中Citrin缺陷病15例,甲基丙二酸血症4例,酪氨酸血症3例,丙酸血症3例,尿素循环异常2例,原发性甘油酸尿症、乙酰乙酰辅酶A硫解酶缺乏症、脂肪酸代谢异常、苯丙酮尿症、果糖-1,6-二磷酸酶缺乏症各1例。临床主要表现为肝脾肿大22例,黄疸20例,精神运动发育落后14例,肌张力异常10例,惊厥或间断性抽搐8例,昏迷4例。实验室检查为肝功能异常21例,血氨升高21例,代谢性酸中毒20例,空腹低血糖10例,头颅CT或MR显示异常11例。结论:对临床表现和实验室检查不能明确病因的患儿应进行遗传性代谢疾病的筛查,GC/MS是诊断遗传代谢病的有效方法。
Objective: To understand the prevalence of hereditary metabolic diseases in high-risk infants and young children in Nanjing and to analyze the clinical features of the infants. Methods: A total of 288 high risk infants with suspected genetic and metabolic diseases were analyzed for urine chemistry by gas chromatography - mass spectrometry (GC / MS). Results: Of the 288 cases, 32 cases (11.1%) had abnormal urine, including 15 cases of Citrin deficiency, 4 cases of methylmalonic acidemia, 3 cases of tyrosinemia, 3 cases of propionic acidemia, Urea cycle abnormalities in 2 cases, primary glyceratemia, acetoacetyl-CoA thiolase deficiency, fatty acid metabolism, phenylketonuria, fructose-1, 6-bisphosphatase deficiency in 1 case. Clinical manifestations of hepatosplenomegaly in 22 cases, 20 cases of jaundice, mental retardation in 14 cases, 10 cases of abnormal muscle tone, convulsions or intermittent convulsions in 8 cases, coma in 4 cases. Laboratory tests showed abnormal liver function in 21 cases, elevated serum ammonia in 21 cases, metabolic acidosis in 20 cases, fasting hypoglycemia in 10 cases, skull CT or MR abnormalities in 11 cases. CONCLUSIONS: Hereditary metabolic diseases should be screened in children with clinical manifestations and laboratory tests that do not have a definitive cause. GC / MS is an effective method for the diagnosis of inherited metabolic diseases.