Metabolomics of Plasma in XLH Patients with Arterial Hypertension: New Insights into the Underlying Mechanisms.
Luis Carlos López-RomeroJosé Jesús BrosetaMarta Isabel Roca-MarugánJuan Rafael Muñoz-CastañedaAgustin LahozJulio Hernández-JarasPublished in: International journal of molecular sciences (2024)
X-linked hypophosphatemia (XLH) is a rare genetic disorder that increases fibroblast growth factor 23 (FGF23). XLH patients have an elevated risk of early-onset hypertension. The precise factors contributing to hypertension in XLH patients have yet to be identified. A multicenter cross-sectional study of adult patients diagnosed with XLH. Metabolomic analysis was performed using ultra-performance liquid chromatography (UPLC) coupled to a high-resolution mass spectrometer. Twenty subjects were included, of which nine (45%) had hypertension. The median age was 44 years. Out of the total, seven (35%) subjects had a family history of hypertension. No statistically significant differences were found between both groups for nephrocalcinosis or hyperparathyroidism. Those with hypertension exhibited significantly higher levels of creatinine (1.08 ± 0.31 mg/dL vs. 0.78 ± 0.19 mg/dL; p = 0.01) and LDL-C (133.33 ± 21.92 mg/dL vs. 107.27 ± 20.12 mg/dL, p = 0.01). A total of 106 metabolites were identified. Acetylcarnitine ( p = 0.03), pyruvate p = (0.04), ethanolamine ( p = 0.03), and butyric acid ( p = 0.001) were significantly different between both groups. This study is the first to examine the metabolomics of hypertension in patients with XLH. We have identified significant changes in specific metabolites that shed new light on the potential mechanisms of hypertension in XLH patients. These findings could lead to new studies identifying associated biomarkers and developing new diagnostic approaches for XLH patients.
Keyphrases
- blood pressure
- end stage renal disease
- high resolution
- ejection fraction
- early onset
- newly diagnosed
- chronic kidney disease
- arterial hypertension
- mass spectrometry
- peritoneal dialysis
- clinical trial
- gene expression
- risk assessment
- liquid chromatography
- patient reported outcomes
- dna methylation
- patient reported
- tandem mass spectrometry
- uric acid