蛋白丢失性肠病与钴胺素C缺陷的关联。
The association of protein-losing enteropathy with cobalamin C defect.
作者信息
Ellaway C, Christodoulou J, Kamath R, Carpenter K, Wilcken B
机构信息
Department of Biochemical Genetics, Royal Alexandra Hospital for Children, Westmead, New South Wales, Australia.
出版信息
J Inherit Metab Dis. 1998 Feb;21(1):17-22. doi: 10.1023/a:1005303128904.
We report a male infant with cobalamin C defect whose clinical course was complicated by diarrhoea suggestive of a protein-losing enteropathy, failure to thrive, macrocytosis and thrombocytopenia which resolved with hydroxocobalamin treatment. Protein-losing enteropathy has not previously been reported in association with cobalamin C defect and, if unrecognized, could cause considerable morbidity.
我们报告了一名患有钴胺素C缺陷的男婴，其临床病程因提示蛋白丢失性肠病的腹泻、发育不良、大细胞性贫血和血小板减少症而复杂化，这些症状在接受羟钴胺治疗后得到缓解。此前尚未有蛋白丢失性肠病与钴胺素C缺陷相关的报道，若未被识别，可能会导致相当高的发病率。
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