当前位置: 首页 > 国际皮肤性病学杂志(英文) > 2020年04期 > Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

国际皮肤性病学杂志(英文)【2020年第04期】

内容简介
International Journal of Dermatology and Vernereology(简称IJDV)于2018年创刊,是目前大陆地区第一本也是唯一的英文皮肤性病学期刊。IJDV旨在为皮肤性病学及相关领域的临床医生和研究人员提供一个国际性开放平台,促进本学科各个方向包括流行病、病因、诊断和治疗的全面交流。过去的几十年,国内皮肤性病学包括遗传学,流行病学等发展迅速,科研成果倍出,有国际学术交流的迫切需要,但令人遗憾的是,大陆地区没有一本自主产权的皮肤病学英文刊可以提供这样的平台。因此,中华医学会和中国医学科学院皮肤病医院(皮肤病研究所)联手将原来的中文刊《国际皮肤性病学杂志》改刊为全英文的IJDV。中华医学会是国内最大的医学组织,具有丰富的办刊经验和资源。皮肤病研究所是全国皮肤病和性病学专业机构,也是国家性病和麻风控制中心和WHO性传播疾病预防和控制合作中心。研究所具有国内皮肤病学最全面的亚学科,是国内皮肤性学学术和科研力量最强的研究机构之一。编辑部有丰富的办刊经验,出版《中华皮肤科杂志》在皮肤性病学影响因子排名第一。目前IJDV已经有了超过2万人的微信粉丝群并在持续增加,为其影响力的快速提升打下了良好的基础。IJDV正在和荷兰威科商谈合作出版,力争在3-5年内实现期刊的国际化。

Kidney Stones Are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization Disorder

2021-01-10 19:13:19 医药卫生 Ralph 
资料简介

AbstractObjective:Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiovascular system, kidney stones were reported in some individuals with PXE. The aim of this study is to determine whether kidney stones are an incidental finding or a frequent manifestation of PXE.Methods:We first investigated the genetic basis of two siblings diagnosed with PXE. The younger patient presented with recurrent kidney stones since 8 years old. Secondly, to address whether kidney stones are associated with PXE, the prevalence of kidney stones in a survey cohort of 563 respondents with PXE was compared to that of a general U.S. population survey, National Health and Nutrition Examination Survey, with 28,629 participants.Results:Genetic analysis in both patients identified compound heterozygous mutations in ABCC6, c.2787+1G>T, and c.3774_3775insC. The analysis of participants 20 years old and older revealed that 23.4% of PXE patients had previously had a kidney stone, a significant increase compared to 9.2% in the general population (P < 0.01). In addition, 17.8% of PXE patients reported their first kidney stone episode before age of 18 years old.Conclusions:PXE correlates with an increased risk of developing kidney stones with considerable morbidity and health-care cost.

AbstractObjective:Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 gene. While PXE is characterized by ectopic mineralization of connective tissues clinically affecting the skin, eyes, and cardiovascular system, kidney stones were reported in some individuals with PXE. The aim of this study is to determine whether kidney stones are an incidental finding or a frequent manifestation of PXE.Methods:We first investigated the genetic basis of two siblings diagnosed with PXE. The younger patient presented with recurrent kidney stones since 8 years old. Secondly, to address whether kidney stones are associated with PXE, the prevalence of kidney stones in a survey cohort of 563 respondents with PXE was compared to that of a general U.S. population survey, National Health and Nutrition Examination Survey, with 28,629 participants.Results:Genetic analysis in both patients identified compound heterozygous mutations in ABCC6, c.2787+1G>T, and c.3774_3775insC. The analysis of participants 20 years old and older revealed that 23.4% of PXE patients had previously had a kidney stone, a significant increase compared to 9.2% in the general population (P < 0.01). In addition, 17.8% of PXE patients reported their first kidney stone episode before age of 18 years old.Conclusions:PXE correlates with an increased risk of developing kidney stones with considerable morbidity and health-care cost.