Sharma Ajay P, Greenberg Cheryl R, Prasad Asuri N, Prasad Chitra
Department of Pediatrics, University of Western Ontario, London, ON, Canada.
Pediatr Nephrol. 2007 Dec;22(12):2097-103. doi: 10.1007/s00467-007-0604-1. Epub 2007 Sep 14.
Diarrhea-positive hemolytic uremic syndrome (HUS) is a common cause of acute renal failure in children. Diarrhea-negative (D-), or atypical HUS, is etiologically distinct. A Medline search identified seven previously reported D- cases of HUS secondary to cobalamin C (cblC) disease presenting in infancy. An infantile presentation is reported to be associated with a high mortality rate (6/7 cases). We describe the results of a 5-year longitudinal follow-up in a child diagnosed with D- HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene. We briefly review the published experience in cblC-associated HUS to highlight the clinical characteristics of this uncommon, but potentially treatable, condition.
腹泻阳性溶血尿毒综合征（HUS）是儿童急性肾衰竭的常见病因。腹泻阴性（D-）或非典型HUS在病因上有所不同。一项医学文献检索发现了7例先前报道的婴儿期出现的继发于钴胺素C（cblC）病的D-HUS病例。据报道，婴儿期发病与高死亡率相关（7例中有6例）。我们描述了一名婴儿期诊断为继发于cblC病的D-HUS儿童的5年纵向随访结果。该患者的突变分析确定了cblC基因MMACHC中271 dupA突变（c.271 dupA）的纯合性。我们简要回顾了已发表的与cblC相关的HUS的经验，以突出这种罕见但可能可治疗的疾病的临床特征。
