BACKGROUND/AIMS Urea cycle disorders (UCDs) are rare inborn errors of urea synthesis. US and European consensus statements on the diagnosis and treatment of UCDs were last published in 2001 and 2019, respectively. Recommendations are based primarily on case reports and expert opinion and there is limited agreement or consistency related to long-term management approaches. A clinician survey was conducted to assess current real-world practices and perspectives on challenges and unmet needs. METHODS A 14-item multiple-choice survey was administered to physicians in 2017. Clinicians who reported actively managing at least 1 patient with UCD were eligible to participate. Descriptive statistics were calculated for each survey item (frequencies for categorical variables; means, standard deviations, medians, and ranges for continuous variables). RESULTS Sixty-six US clinicians completed the survey (65 geneticists; 1 pediatric neurologist). Over 90% of responders agreed or strongly agreed that even modest elevations in ammonia could cause physiological and functional brain damage; >80% of respondents agreed that asymptomatic UCD patients are at risk of brain damage over time due to mild/subclinical elevations in ammonia. Eighty-six percent of clinicians agreed or strongly agreed with recommending genetic testing for female relatives when a patient is diagnosed with ornithine transcarbamylase deficiency. Ninety-four percent of respondents agreed that patients have better disease control when they are more adherent to their UCD therapy. Nearly 90% indicated that clinicians and patients would benefit from updated UCD management guidance. More than half (53%) of respondents rated the symptoms of UCDs as extremely or very burdensome to the everyday lives of patients and their families; only 8% rated UCD symptoms as slightly or not at all burdensome. The majority of clinicians agreed (48%) or strongly agreed (32%) that caring for a child or family member with a UCD has a negative impact on the quality of life and/or health of family members/guardians (e.g. stress, relationships, ability to work). CONCLUSIONS This self-reported survey suggests a need for updated and expanded clinical guidance on the long-term treatment and management of UCD patients.

中文翻译：

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关于尿素循环障碍管理的观点：临床医生调查的结果。

背景/目的尿素循环障碍（UCDs）是尿素合成中罕见的先天性错误。美国和欧洲关于UCD诊断和治疗的共识声明分别于2001年和2019年发布。建议主要基于案例报告和专家意见，并且与长期管理方法相关的协议或一致性有限。进行了一项临床医生调查，以评估当前现实世界的做法以及对挑战和未满足需求的看法。方法2017年对医生进行了14个项目的多项选择调查。据报告积极管理至少1名UCD患者的临床医生有资格参加。计算每个调查项目的描述性统计数据（分类变量的频率；均值，标准差，中位数和连续变量的范围）。结果有66位美国临床医生完成了调查（65位遗传学家； 1位儿科神经科医生）。超过90％的响应者同意或强烈同意，即使氨水的适度升高也会引起生理和功能性脑损伤。超过80％的受访者同意，由于氨的轻度/亚临床升高，无症状的UCD患者随着时间的流逝有遭受脑损伤的风险。当患者被诊断为鸟氨酸转氨甲酰酶缺乏症时，百分之八十六的临床医生同意或强烈同意建议对女性亲属进行基因检测。94％的受访者同意，当患者对UCD治疗的依从性更高时，他们的疾病控制就会更好。近90％的人表示临床医生和患者将从UCD管理指南的更新中受益。超过一半的受访者（53％）认为UCD的症状对患者及其家人的日常生活造成了极大或非常沉重的负担；只有8％的人认为UCD症状轻微或根本没有负担。大多数临床医生同意（48％）或强烈同意（32％），照顾患有UCD的儿童或家庭成员会对家庭成员/监护人的生活质量和/或健康产生负面影响（例如压力，人际关系） ，工作能力）。结论这项自我报告的调查表明，需要对UCD患者的长期治疗和管理进行更新和扩展的临床指导。大多数临床医生同意（48％）或强烈同意（32％），照顾患有UCD的儿童或家庭成员会对家庭成员/监护人的生活质量和/或健康产生负面影响（例如压力，人际关系） ，工作能力）。结论这项自我报告的调查表明，需要对UCD患者的长期治疗和管理进行更新和扩展的临床指导。大多数临床医生同意（48％）或强烈同意（32％），照顾患有UCD的儿童或家庭成员会对家庭成员/监护人的生活质量和/或健康产生负面影响（例如压力，人际关系） ，工作能力）。结论这项自我报告的调查表明，需要对UCD患者的长期治疗和管理进行更新和扩展的临床指导。