半乳糖血症：1988 - 1990年英国儿科监测单位研究结果
Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.
作者信息
Honeyman M M, Green A, Holton J B, Leonard J V
机构信息
Child and Family Centre, Northfield, Birmingham.
出版信息
Arch Dis Child. 1993 Sep;69(3):339-41. doi: 10.1136/adc.69.3.339.
Abstract
Ascertainment of cases of classical galactosaemia over a three year period in the UK and the Republic of Ireland, through the British Paediatric Surveillance Unit, identified 58 proved cases and two in whom the diagnosis was strongly suspected. One patient died at 4 days, and severe morbidity was no more frequent in babies diagnosed clinically because of their symptoms compared with those who were screened for galactosaemia. Treatment of four babies in the non-screened group was delayed until after 5 weeks of age, but it is concluded that all cases of galactosaemia could be diagnosed in an acceptable time without screening, providing clinical vigilance is maintained.
摘要
通过英国儿科监测单位，在三年时间里对英国和爱尔兰共和国的经典型半乳糖血症病例进行确诊，共识别出58例确诊病例以及两例高度疑似病例。一名患者在4天时死亡，与接受半乳糖血症筛查的婴儿相比，因症状而临床诊断出的婴儿严重发病情况并不更常见。未筛查组中有4名婴儿的治疗延迟至5周龄之后，但得出的结论是，只要保持临床警觉，所有半乳糖血症病例无需筛查也可在可接受的时间内得到诊断。
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