Tang Wen, Cai Dihui, Song Yongfei, Liao Zufang, Lian Jiangfang
The Affiliated Lihuili Hospital, Ningbo University, Ningbo, China.
Central Laboratory, Ningbo Institute of Innovation for Combined Medicine and Engineering, Ningbo, China.
Medicine (Baltimore). 2025 Jan 10;104(2):e40818. doi: 10.1097/MD.0000000000040818.
To determine the efficacy of 4-phenylbutyrate (4-PB) or sodium 4-phenylbutyrate (SPB) in treating diseases caused by genetic mutations.
We searched PubMed, Web of Science, Cochrane Library, and EMBASE for studies of patients with genetic mutations treated with 4-PB or SPB. All data were tested using RStudio software.
4-PB or SPB corrected the "functional" production of mutant genes (0.88 [95% confidence interval {CI}: 0.73-1.00], P = .45, I2 = 0%), restored mRNA transcription of mutant genes (0.50 [95% CI: 0.18-0.82], P = .13, I² = 47%), and improved symptoms (0.89 [95% CI: 0.78-1.00], P = .99, I² = 0%) and biochemical laboratory values (1.00 [95% CI: 0.89-1.00], P = .11, I² = 33%) in patients with inherited genetic diseases.
4-PB or SPB can be used to treat genetic diseases. However, they must be validated in high-quality randomized controlled trials before clinical use.
确定4-苯基丁酸（4-PB）或4-苯基丁酸钠（SPB）在治疗由基因突变引起的疾病中的疗效。
我们在PubMed、科学网、Cochrane图书馆和EMBASE中搜索了使用4-PB或SPB治疗的基因突变患者的研究。所有数据均使用RStudio软件进行测试。
4-PB或SPB纠正了突变基因的“功能性”产生（0.88 [95%置信区间{CI}：0.73 - 1.00]，P = 0.45，I² = 0%），恢复了突变基因的mRNA转录（0.50 [95% CI：0.18 - 0.82]，P = 0.13，I² = 47%），并改善了遗传性疾病患者的症状（0.89 [95% CI：0.78 - 1.00]，P = 0.99，I² = 0%）和生化实验室值（1.00 [95% CI：0.89 - 1.00]，P = 0.11，I² = 33%）。
4-PB或SPB可用于治疗遗传性疾病。然而，在临床使用前，它们必须在高质量的随机对照试验中得到验证。
