Impact of BMPR2 mutation on the severity of pulmonary arterial hypertension: a systematic review and meta-analysis.

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Tác giả: Zhesong De, Hao Fu, Yiya Gu, Qian Huang, Jixing Wu, Jungang Xie, Yuan Zhan, Yating Zhang

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Respiratory research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 734528

 OBJECTIVE: To evaluate the association between PAH severity in patients with and without BMPR2 mutation. Additionally, subgroup analyses were also performed to investigate whether differences existed among different ethnicities. METHODS: A literature search of the PubMed-MEDLINE, EMBASE, Web of Science, Scopus, and Cochrane Central Register of Controlled Trials databases was conducted from inception through June, 2024, to identify eligible studies. Analyses were performed using Stata. RESULTS: Seventeen nonrandomized studies comprising a total of 2,190 patients were included in the analysis. Among the hemodynamic variables, the mPAP (WMD = 6.41, 95% CI: 5.07 ~ 7.76, P = 0.000), PVR (WMD = 3.66, 95% CI: 2.79 ~ 4.53, P = 0.000), CI (WMD=-0.38, 95% CI: -0.45 ~ -0.32, P = 0.000), and CO (WMD=-0.60, 95% CI: -0.99 ~ -0.21, P = 0.003) were significantly different at diagnosis between patients with and without BMPR2 mutations. No significant differences were found in RAP and PAWP. Furthermore, subgroup analysis was conducted on data showing significant differences, revealing no significant differences in mPAP and PVR between Asian and Caucasian patients with BMPR2 mutations. However, significant differences in CI and CO were observed between these two ethnic groups, with CI and CO in Caucasians being more affected by BMPR2 mutations and decreasing more than in Asians. CONCLUSION: There is a statistically significant difference in the hemodynamic variables of PAH between BMPR2 mutation carriers and non-carriers, highlighting the mutation's impact on PAH severity. This influence is not associated with ethnicity in mPAP and PVR
  however, it is associated with ethnicity in CI and CO, with Caucasians being more affected by BMPR2 mutations than Asians. This suggests that Caucasians may be more sensitive to BMPR2 mutations. These findings underscore the necessity of genetic testing for PAH patients, particularly among the Caucasian population. Given the poorer clinical phenotype and prognosis of BMPR2 mutation carriers, closer follow-up may be required.
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