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第46卷第8期               刘斐然,冒韵东,刁飞扬. 代谢组学在子宫内膜异位症研究中的应用进展[J].
                  2026年8月                     南京医科大学学报(自然科学版),2026,46(8):1228-1245                      ·1233 ·


                术的不断发展,新型分析方法为尿液代谢研究带                             型(ovarian endometriosis,OE)和盆腔外型 4 种亚型,
                来新机遇。一种基于解析、分离和电离质谱的尿                             这些亚型可单独存在或共存 。
                                                                                           [1]
                液代谢分析平台,结合了机器学习算法,可显著提                            4.1.1 PE与OE的代谢特征与差异
                高检测的灵敏度与特异度,在EMS无创诊断中具应                               在腹膜液中,PE 患者的二肽代谢物苯丙氨酰⁃
                     [41]
                用前景 。                                             异亮氨酸显著升高,且通过独立队列的靶向代谢
                    综上所述,血浆、月经血、粪便、尿液等多种无                         组学验证,在腹膜液中具有卓越的诊断能力,并可
                创生物样本的代谢标志物均能区分 EMS 患者与健                          在血清中被捕获        [28] 。另一研究对 OE 患者的子宫
                康人群(图 1),其中粪便代谢组学与微生物组的整                          内膜液进行脂质组学分析发现,OE 组饱和二酰基
                合模型在诊断效能上较为优异。                                    甘 油(diacylglycerol,DAG)和 饱 和 三 酰 基 甘 油
                                                                 (triacylglycerol,TAG)水平较对照组显著降低,而部
                4  代谢组学与EMS分型与分期
                                                                  分长链多不饱和TAG升高 。
                                                                                         [42]
                    代谢组学技术揭示了不同 EMS 临床分型和分                            血清代谢组学研究揭示PE和OE存在明显的代
                期的特异性代谢特征,为EMS的精准分型分期提供                           谢差异。PE组色氨酸、核黄素和嘌呤代谢物丰度显
                新的客观依据。                                           著升高,提示免疫激活与氧化应激增强                   [15] 。而 OE

                4.1  临床分型                                         组呈现介于PE与对照组之间的中间表型,提示其代
                    根据病变的解剖位置和浸润深度,EMS 可分为                        谢异常程度相对较轻,这一差异可能源于解剖特
                浅表腹膜型(peritoneal endometriosis,PE)、DIE、卵巢         性,浅表腹膜病灶具有大面积腹膜⁃血液界面,炎症


                                                              Significant differences in LysoPC levels;decreased
                                                              levels of certain PC species
                                Elevated levels of fucose     Altered concentrations of phospholipids and
                                and lipoproteins
                                                              micrometabolites;increased levels of
                                                              phospholipids,fatty acids,and acyl derivatives;
                                Phospholipids:                decreased AICAR levels
                                Elevated levels of SM and PC;  Elevated lactate levels
                                elevated levels of LysoPE
                                associated with postoperative  Elevated levels of 8⁃OH⁃dG,nitrite and
                                persistent pelvic pain        nitrate
                                Decreased levels of glycocholic                           Altered lipid
                                acid,taurocholic acid,and other                           metabolism:
                                conjugated bile acids                                     significantly
                                                               Follicular                 elevated levels of
                                Elevated levels of               fluid                    LysoPC and PE⁃
                                valine,lysine,and                                         derived lipids
                                arginine;
                                elevated β⁃
                                hydroxybutyrate                                           Iron overload
                                and proline,                                              accumulation of
                                but decreased                                Peritoneal   iron,ferritin,and
                                alanine and valine in  Blood                  fluid       free heme
                                severe EMS
                                patients
                                Elevated levels of
                                lauroylcarnitine,
                                oleoylcarnitine,
                                myristoylcarnitine,                                        Elevated levels of
                                and other long⁃                                            guanidinosuccinate,
                                chain                                        Urine         creatinine,taurine,
                                acylcarnitines              Endometriosis                  valine,and 2⁃
                                                                                           hydroxyisovalerate
                                                   Endometrial
                                                    tissue
                                                                     Feces                 Decreased levels of
                                Decreased levels of key amino                              lysine
                                acids:alanine,leucine,lysine,and
                                phenylalanine;
                                elevated L⁃arginine,L⁃tyrosine,and
                                hydroxyproline                             Decreased levels
                                Elevated levels of lipid molecules:PC,     of 4HI
                                phosphatidylethanolamine(PE),and
                                phosphatidylserine(PS)
                                                                           Elevated levels of
                                Elevated levels of hypoxanthine            circulating estrogen
                                Decreased levels of polyunsaturated        Decreased levels of short⁃chain fatty
                                fatty acid(PUFA):eicosatrienoic            acid(SCFA)including butyrate and
                                acid,linolenic acid,and linoleic acid      propionate
                                Non⁃Lactobacillus⁃dominated                Elevated secondary bile acids including
                                microbiota profile                         lithocholic acid and deoxycholic acid
                                        图1 EMS研究中不同来源生物样本代谢组学检测进展一览图
                   Figure 1 Overview of metabolomics detection advances in different biologically⁃sourced samples from EMS research
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