门克斯综合征。一名自21日龄起接受胃肠外铜治疗的患者报告。
Menkes's syndrome. Report of a patient treated from 21 days of age with parenteral copper.
作者信息
Daish P, Wheeler E M, Roberts P F, Jones R D
出版信息
Arch Dis Child. 1978 Dec;53(12):956-8. doi: 10.1136/adc.53.12.956.
Abstract
In an infant with Menkes's steely-hair syndrome, early treatment (from 21 days of age) with parenteral copper failed to halt the disease. In addition to urinary tract abnormalities, panlobular emphysema was present a finding not previously noted in the syndrome.
摘要
在一名患有门克斯钢发综合征的婴儿中，从21日龄开始进行肠胃外铜治疗未能阻止疾病进展。除泌尿系统异常外，还存在全小叶型肺气肿，这是该综合征中以前未被注意到的一个发现。
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