背景:迟发性多酰基辅酶A脱氢酶缺乏症(MADD)是最常见的脂质贮积性肌病。脂肪代谢存在性别差异,目前尚不清楚迟发性MADD是否会对男性和女性产生同等影响。
方法:在本系统综述和荟萃分析中,PubMed,Embase,WebofScience,CNKI,CBM,和万方数据库一直搜索到2023年01月08日。包括报告晚发性MADD患者性别分布的研究。两位作者独立筛选了研究的资格,提取的数据,并评估偏见的风险。预先指定的目标是晚发性MADD患者的男女比例(MFR),性别差异的临床特征,以及影响MFR的因素。
结果:在3379项确定的研究中,34符合纳入标准,共产生609例晚发性MADD患者。男性的总体合并百分比为58%(95%CI,54-63%),在研究中异质性较低(I2=2.99%;P=0.42)。平均发病年龄,诊断延迟,血清肌酸激酶(CK),ETFDH基因中3个热点变异的等位基因频率在男女患者中相似(P>0.05)。Meta回归显示,在晚发性MADD中,种族群体与MFR相关,亚组荟萃分析表明,东亚患者的男性比例更高,下CK,ETFDH基因热点变异的比例高于非东亚患者(P<0.05)。
结论:男性晚发性MADD患者比女性患者更常见。种族被证明是影响晚发性MADDMFR的因素。这些发现表明,男性可能是该疾病的危险因素。
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and women equally.
METHODS: In this systematic review and meta-analysis, the PubMed, Embase, Web of Science, CNKI, CBM, and Wanfang databases were searched until 01/08/2023. Studies reporting sex distribution in patients with late-onset MADD were included. Two authors independently screened studies for eligibility, extracted data, and assessed risk of bias. Pre-specified outcomes of interest were the male-to-female ratio (MFR) of patients with late-onset MADD, the differences of clinical characteristics between the sexes, and factors influencing the MFR.
RESULTS: Of 3379 identified studies, 34 met inclusion criteria, yielding a total of 609 late-onset MADD patients. The overall pooled percentage of males was 58% (95% CI, 54-63%) with low heterogeneity across studies (I2 = 2.99%; P = 0.42). The mean onset ages, diagnostic delay, serum creatine kinase (CK), and allelic frequencies of 3 hotspot variants in ETFDH gene were similar between male and female patients (P > 0.05). Meta-regressions revealed that ethnic group was associated with the MFR in late-onset MADD, and subgroup meta-analyses demonstrated that East-Asian patients had a higher percentage of male, lower CK, and higher proportion of hotspot variants in ETFDH gene than non-East-Asian patients (P < 0.05).
CONCLUSIONS: Male patients with late-onset MADD were more common than female patients. Ethnicity was proved to be a factor influencing the MFR in late-onset MADD. These findings suggest that male sex may be a risk factor for the disease.