Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period
Cobalamin C disease presenting as hemolytic-uremic syndrome in the neonatal period
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DOI：
10.1097/00043426-200205000-00023
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发表时间：
2002-05-01
影响因子：
1.2
通讯作者：
Kane, SA
中科院分区：
文献类型：
--
作者：
Kind, T;Levy, J;Kane, SA
描述了一例与新生儿期溶血尿毒症综合征 (HUS) 相关的钴胺素 C 疾病新病例。一名 28 天大的男孩出现发育迟缓、肌张力低下、全血细胞减少和 HUS 特征（微血管病性溶血性贫血、血小板减少和肾功能衰竭）。外周涂片上巨幼细胞变化的证据以及文献中发现的新生儿 HUS 与这种与钴胺素相关的代谢紊乱之间的关联提示了诊断潜在维生素 B-12 紊乱的可能性。氨基酸分析显示血浆中同型半胱氨酸水平升高，尿液中同型半胱氨酸和甲基丙二酸水平升高。使用皮肤成纤维细胞的互补研究证实了钴胺素 C 病的诊断。治疗包括肠胃外羟钴胺、肉碱和亚叶酸钙（亚叶酸）。对于婴儿期患有 HUS 且患有原因不明的巨幼细胞增多症、全血细胞减少症、神经功能障碍和发育迟缓的患者，诊断时应考虑钴胺素 C 病。早期诊断和治疗可能有效提高生存率和生活质量。
A new case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. A 28-day-old boy presented with failure to thrive, hypotonia, pancytopenia, and features of HUS (microangiopathic hemolytic anemia, thrombocytopenia, and renal failure). The possibility of the diagnosis of an underlying vitamin B-12, disorder was prompted by evidence of megaloblastic changes on the peripheral smear and by finding in the literature a suggested association of neonatal HUS with this cobalamin-related metabolic disorder. Amino acid analysis showed elevated homocysteine levels in the plasma and increased levels of both homocysteine and methyl malonic acid in the urine. Diagnosis of cobalamin C disease was confirmed by complementation studies using skin fibroblasts. Therapy included parenteral hydroxocobalamin, carnitine, and leucovorin calcium (folinic acid). Cobalamin C disease should be considered in the diagnosis of patients presenting with HUS in infancy who have unexplained megaloblastosis, pancytopenia, neurologic impairment, and failure to thrive. Early diagnosis and institution of therapy may be effective in improving survival and quality of life.