Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
Children's National Health System, Washington, DC, USA.
Mol Genet Metab. 2023 Nov;140(3):107696. doi: 10.1016/j.ymgme.2023.107696. Epub 2023 Sep 8.
Individuals with urea cycle disorders (UCDs) may develop recurrent hyperammonemia, episodic encephalopathy, and neurological sequelae which can impact Health-related Quality of Life (HRQoL). To date, there have been no systematic studies of HRQoL in people with UCDs.
We reviewed HRQoL and clinical data for 190 children and 203 adults enrolled in a multicenter UCD natural history study. Physical and psychosocial HRQoL in people with UCDs were compared to HRQoL in healthy people and people with phenylketonuria (PKU) and diabetes mellitus. We assessed relationships between HRQoL, UCD diagnosis, and disease severity. Finally, we calculated sample sizes required to detect changes in these HRQoL measures.
Individuals with UCDs demonstrated worse physical and psychosocial HRQoL than their healthy peers and peers with PKU and diabetes. In children, HRQoL scores did not differ by diagnosis or severity. In adults, individuals with decreased severity had worse psychosocial HRQoL. Finally, we show that a large number of individuals would be required in clinical trials to detect differences in HRQoL in UCDs.
Individuals with UCDs have worse HRQoL compared to healthy individuals and those with PKU and diabetes. Future work should focus on the impact of liver transplantation and other clinical variables on HRQoL in UCDs.
尿素循环障碍（UCD）患者可能会反复发作高氨血症、间歇性脑病和神经后遗症，从而影响健康相关生活质量（HRQoL）。迄今为止，尚未有针对 UCD 患者 HRQoL 的系统研究。
我们回顾了一项多中心 UCD 自然史研究中纳入的 190 名儿童和 203 名成人的 HRQoL 和临床数据。将 UCD 患者的生理和心理社会 HRQoL 与健康人群以及苯丙酮尿症（PKU）和糖尿病患者的 HRQoL 进行比较。我们评估了 HRQoL 与 UCD 诊断和疾病严重程度之间的关系。最后，我们计算了检测这些 HRQoL 指标变化所需的样本量。
与健康同龄人以及 PKU 和糖尿病同龄人相比，UCD 患者的生理和心理社会 HRQoL 更差。在儿童中，HRQoL 评分与诊断或严重程度无关。在成人中，严重程度降低的个体心理社会 HRQoL 更差。最后，我们表明，临床试验中需要大量个体来检测 UCD 中 HRQoL 的差异。
与健康个体以及 PKU 和糖尿病个体相比，UCD 患者的 HRQoL 更差。未来的工作应侧重于肝移植和其他临床变量对 UCD 患者 HRQoL 的影响。
