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

作     者：Ralph Douglas Allawh Rina Terry Ian F. Terry Sharon F. Uitto Jouni Li Qiao-Li Ralph Douglas;Allawh Rina;Terry Ian F.;Terry Sharon F.;Uitto Jouni;Li Qiao-Li

作者机构：Department of Dermatology and Cutaneous BiologyThe Sidney Kimmel Medical Collegeand The PXE International Center of Excellence in Research and Clinical CareThomas Jefferson UniversityPhiladelphiaPA 19107USA PXE InternationalInc.WashingtonDC 20008USA Jefferson Institute of Molecular MedicineThomas Jefferson UniversityPhiladelphiaPA 19107USA 

出 版 物：《International Journal of Dermatology and Venereology》 (国际皮肤性病学杂志（英文）)

年 卷 期：2020年第3卷第4期

页      面：198-204页

学科分类：1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100210[医学-外科学(含：普外、骨外、泌尿外、胸心外、神外、整形、烧伤、野战外)] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：This study was supported by the PXE International,NIH/NIAMS grants R01AR028450(JU)and R01AR072695(JU and QL) The authors thank our patients for their participation in our studies.Carol Kelly assisted in manuscript preparation 

主　　题：ectopic mineralization kidney stones pseudoxanthoma elasticum 

摘      要：Objective:Pseudoxanthoma elasticum(PXE)is a rare genetic disorder caused by loss-of-function mutations in the ABCC6 *** 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 *** aim of this study is to determine whether kidney stones are an incidental finding or a frequent manifestation of ***:We first investigated the genetic basis of two siblings diagnosed with *** younger patient presented with recurrent kidney stones since 8 years ***,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 *** survey,National Health and Nutrition Examination Survey,with 28,629 ***:Genetic analysis in both patients identified compound heterozygous mutations in ABCC6,c.2787+1GT,and c.3774_*** 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(P0.01).In addition,17.8%of PXE patients reported their first kidney stone episode before age of 18 years ***:PXE correlates with an increased risk of developing kidney stones with considerable morbidity and health-care cost.