关键词: Biomarker Developmental dysplasia of the hip Metabolomics Rare disease

Mesh : Female Humans Infant Male Metabolomics / methods Tibet Developmental Dysplasia of the Hip / diagnosis

来  源:   DOI:10.1186/s13023-024-03230-w   PDF(Pubmed)

Abstract:
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common childhood health complaint, whose etiology is multifactorial. The incidence of DDH is variable and higher in Tibet plateau. Here, we collected plasma samples and studied the metabolomics signatures of DDH.
METHODS: Fifty babies were enrolled: 25 with DDH and 25 age-matched non-DDH healthy controls (HC group). We collected plasma samples, laboratory parameters and conducted untargeted metabolomics profiling.
RESULTS: There are many differential metabolites among patients with DDH, including 4-β-hydroxymethyl-4-α-methyl-5-α-cholest-7-en-3-beta-ol, β-cryptoxanthin, α-tocopherol, taurocholic acid, glycocholic acid, 2-(3,4-dihydroxybenzoyloxy)-4,6-dihydroxybenzoate, arabinosylhypoxanthine, leucyl-hydroxyproline, hypoxanthine. The main differential metabolic pathways focused on primary bile acid biosynthesis, arginine and proline metabolism, phenylalanine metabolism, histidine metabolism, purine metabolism.
CONCLUSIONS: To our knowledge, this is the first report of metabolomics profile in babies with DHH. By combining the α-tocopherol and taurocholic acid, we could achieve the differential diagnosis of DDH.
摘要:
背景:发育性髋关节发育不良(DDH)是儿童常见的健康问题,其病因是多因素的。DDH的发病率在西藏高原是可变的且较高。这里,我们收集了血浆样本并研究了DDH的代谢组学特征.
方法:纳入50名婴儿:25名DDH和25名年龄匹配的非DDH健康对照(HC组)。我们采集了血浆样本,实验室参数和进行非靶向代谢组学分析。
结果:DDH患者中存在许多不同的代谢物,包括4-β-羟甲基-4-α-甲基-5-α-胆-7-烯-3-β-醇,β-隐黄质,α-生育酚,牛磺胆酸,甘胆酸,2-(3,4-二羟基苯甲酰氧基)-4,6-二羟基苯甲酸酯,阿拉伯糖基次黄嘌呤,亮氨酰-羟脯氨酸,次黄嘌呤.主要的差异代谢途径集中在初级胆汁酸生物合成,精氨酸和脯氨酸代谢,苯丙氨酸代谢,组氨酸代谢,嘌呤代谢。
结论:据我们所知,这是DHH婴儿代谢组学概况的第一份报告.通过结合α-生育酚和牛磺胆酸,我们可以实现DDH的鉴别诊断。
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