TUhjnbcbe - 2021/7/17 20:50:00
Danondiseaseisanunderdiagnosedcauseofadvancedheartfailureinyoungfemalepatients:aLAMP2flowcytometricstudyESCHeartFailureArticleEarlyRecent,July13,./ehf2.本文由“天纳”临床学术信息人工智能系统自动翻译点击文末“阅读原文”下载本文PDFAimsDanondisease(DD)isarareX‐linkeddisordercausedbymutationsinthelysosomal‐associatedmembraneproteintype2gene(LAMP2).DDisdifficulttodistinguishfromothercausesofdilatedorhypertrophiccardiomyopathy(HCM)infemalepatients.AsDDfemalepatientsregularlyprogressintoadvancedheartfailure(AHF)aged20–40?years,theirearlyidentificationiscriticaltoimprovepatientsurvivalandfacilitategeneticcounselling.Inthisstudy,weevaluatedtheprevalenceofDDamongfemalepatientswithnon‐ischemiccardiomyopathy,whoreachedAHFandwereyoungerthan40?years.Danon病（DD）是由溶酶体相关膜蛋白2型基因（LAMP2）突变引起的一种罕见的X连锁疾病。DD很难与女性患者扩张型或肥厚型心肌病（HCM）的其他病因区分开来。由于DD女性患者通常会进展为20-40岁的晚期心力衰竭（AHF），因此早期识别对提高患者生存率和促进遗传咨询至关重要。在本研究中，我们评估了非缺血性心肌病女性患者中DD的患病率，这些患者达到AHF，年龄小于40岁。MethodsandresultsThestudycohort