文献综述和经典的半乳糖血症诊断的结果在新生儿期。

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Karadag N, Zenciroglu Eminoglu英尺,Dilli D,”b, Kundak, Dursun, okumu哈坎·N N

文献综述和经典的半乳糖血症诊断的结果在新生儿期。

中国实验室。2013;59 (9):1139 - 46。

PubMed ID

24273939 (在PubMed

]

文摘

背景:本研究的目的是评估的特点和结果经典半乳糖血症诊断新生儿期。方法:回顾性研究是开展新生儿经典半乳糖血症的患者随访22日在一个三级新生儿重症监护单位从2005年1月到2011年1月。结果:在研究期间,22(18岁男孩,4个女孩)新生儿经典被诊断出患有半乳糖血症。平均妊娠年龄是38周(31 - 42)的平均年龄13(3 - 23)天入院。主要表现症状肝肿大(n = 22日100%)、黄疸(n = 19岁,86%;包括间接(n = 14人,63%)和(n = 8 36%)直接高胆红素血),呕吐(n = 17日77%)和核白内障(n = 15, 68%)。肝脏功能障碍(n = 22日100%),大肠杆菌败血症(n = 10),紫癜fulminans (n = 1), hemophagocytosis (n = 1),和长QT综合症(n = 1)也指出。白内障解决galactose-restricted 11例(73%)患者饮食中第一个月。四为白内障患者手术。神经发育评估显示,一个病人轻度精神运动发育迟滞,在五个学习障碍,在三个发育迟缓。 None died from galactosemia or its complications. Patients who were diagnosed before 17 days did not require cataract operation. CONCLUSIONS: Early diagnosis of galactosemia and treatment with a galactose-restricted diet could partially prevent and recover complications of the disease, but not all of them. Cataracts can develop even in the first few weeks of life. Early diagnosis seems important in the prevention of severe cataracts. Therefore, newborn screening for galactosemia should improve morbidity.

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药物

半乳糖