与溶血尿毒综合征相关的钴胺素C缺陷
Cobalamin C defect associated with hemolytic-uremic syndrome.
作者信息
Geraghty M T, Perlman E J, Martin L S, Hayflick S J, Casella J F, Rosenblatt D S, Valle D
机构信息
Department of Pediatrics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
出版信息
J Pediatr. 1992 Jun;120(6):934-7. doi: 10.1016/s0022-3476(05)81967-5.
We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. Review of this and other described cases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this inborn error of cobalamin metabolism.
我们描述了一名患有甲基丙二酸尿症和高胱氨酸尿症联合钴胺素C型典型特征的女婴，她还患有溶血尿毒综合征，伴有血小板减少、微血管病性溶血性贫血、高血压和肾衰竭。对该病例以及其他已描述的钴胺素C缺陷病例的回顾表明，溶血尿毒综合征是这种钴胺素代谢先天性缺陷表型谱的一部分。
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