尿素循环障碍概述
Urea Cycle Disorders Overview
作者信息
Simpson Kara L, MacLeod Erin L, Kakajiwala Aadil, Gropman Andrea L, Ah Mew Nicholas
机构信息
Children's National Rare Disease Institute, Children's National Hospital, Washington, DC
Critical Care Medicine, Children's National Hospital, Washington, DC
The purpose of this overview is to: 1.. Briefly describe the clinical characteristics of urea cycle disorders; 2.. Review the genetic causes of urea cycle disorders; 3.. Review the differential diagnosis of urea cycle disorders with a focus on genetic conditions; 4.. Provide an evaluation strategy to identify the genetic cause of a urea cycle disorder in a proband (when possible); 5.. Review management of hyperammonemia and urea cycle disorders; 6.. Inform genetic counseling of family members of an individual with a urea cycle disorder and evaluation of a newborn at risk for a urea cycle disorder.
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本关于尿素循环障碍概述的目标如下：
目标1：定义尿素循环并描述尿素循环障碍的临床特征
目标2：回顾尿素循环障碍的病因及其患病率
目标3：提供一种评估策略，以确定先证者尿素循环缺陷的具体类型和遗传病因
目标4：回顾尿素循环障碍的鉴别诊断
目标5：告知先证者家庭成员的遗传风险评估
目标6：简要总结尿素循环障碍的急性处理
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