Ralph Douglas, Allawh Rina, Terry Ian F, Terry Sharon F, Uitto Jouni, Li Qiaoli
Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College, and The PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, PA 19107, USA.
PXE International, Inc., Washington, DC 20008, USA.
Int J Dermatol Venereol. 2020 Dec;3(4):198-204. doi: 10.1097/jd9.0000000000000126.
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder caused by loss-of-function mutations in the 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. We investigated the genetic basis of two siblings diagnosed with PXE. The younger patient presented with recurrent kidney stones since age 8. 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, NHANES (National Health and Nutrition Examination Survey), with 28,629 participants. Genetic analysis in both patients identified compound heterozygous mutations in , c.2787+1G>T and c.3774_3775insC. The analysis of participants aged 20 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. In addition, 17.8% of PXE patients reported their first kidney stone episode before age 18. PXE correlates with an increased risk of developing kidney stones with considerable morbidity and health-care cost.
弹性假黄瘤（PXE）是一种由该基因功能丧失性突变引起的罕见遗传病。虽然PXE的临床特征是结缔组织异位矿化，影响皮肤、眼睛和心血管系统，但有报道称一些PXE患者患有肾结石。本研究的目的是确定肾结石是PXE的偶然发现还是常见表现。我们调查了两名被诊断为PXE的兄弟姐妹的遗传基础。较年轻的患者自8岁起就反复出现肾结石。为了探讨肾结石是否与PXE相关，我们将563名PXE受访者的调查队列中的肾结石患病率与美国普通人群调查NHANES（国家健康和营养检查调查）中28629名参与者的患病率进行了比较。对两名患者的基因分析均发现了该基因的复合杂合突变，即c.2787+1G>T和c.3774_3775insC。对20岁及以上参与者的分析显示，23.4%的PXE患者曾患过肾结石，与普通人群中9.2%的患病率相比显著增加。此外，17.8%的PXE患者报告他们在18岁之前首次出现肾结石发作。PXE与患肾结石风险增加相关，会导致相当高的发病率和医疗保健成本。
