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血管紧张素转换酶(ACE)基因的多态性会影响常染色体显性遗传性多囊肾病患者的左心室肥厚,并导致左心室收缩/舒张功能紊乱。

The polymorphism of the ACE gene affects left ventricular hypertrophy and causes disturbances in left ventricular systolic/diastolic function in patients with autosomal dominant polycystic kidney disease.

作者信息

Wanic-Kossowska Maria, Posnik Bartlomiej, Kobelski Mikolaj, Pawliczak Elzbieta, Pawlaczyk Krzysztof, Hoppe Krzysztof, Schwermer Krzysztof, Sikorska Dorota

机构信息

Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.

出版信息

ScientificWorldJournal. 2014 Jan 2;2014:707658. doi: 10.1155/2014/707658. eCollection 2014.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently occurring autosomal diseases inherited in the dominant manner. Due to this, lesions in the cardiovascular system of ADPKD patients have caught the attention of clinical investigators worldwide. The aim of the study was to analyse cardiovascular complications in ADPKD patients with a focus on left ventricular hypertrophy (LVH) and selected components of its systolic/diastolic function based on echocardiography. The study was conducted on 55 patients with ADPKD (24 males, 31 females), subdivided into three groups according to the stage of chronic kidney disease (CKD). The patient group with ADPKD and ESRD (group C) manifested an increased incidence of the D allele as compared to group A and group B (χ(2) = 4.217, P = 0.04). In all ADPKD patients with the DD genotype, left ventricular mass (LVM), posterior wall thickness (PWT), and interventricular septal thickness (IVS) were significantly higher compared to patients possessing the II and ID genotypes (P < 0.02, P < 0.003, and P < 0.009, resp.). The DD genotype exists more frequently in ADPKD patients with ESRD and is associated with a higher occurrence of LVH and disturbances in systolic-diastolic function when compared to ADPKD ESRD patients with the II and ID genotypes.

摘要

常染色体显性多囊肾病(ADPKD)是最常见的以显性方式遗传的常染色体疾病之一。正因如此,ADPKD患者心血管系统的病变引起了全球临床研究人员的关注。本研究的目的是基于超声心动图分析ADPKD患者的心血管并发症,重点关注左心室肥厚(LVH)及其收缩/舒张功能的选定组成部分。该研究对55例ADPKD患者(24例男性,31例女性)进行,根据慢性肾脏病(CKD)分期分为三组。与A组和B组相比,ADPKD合并终末期肾病(ESRD)的患者组(C组)D等位基因的发生率增加(χ(2)=4.217,P = 0.04)。在所有具有DD基因型的ADPKD患者中,与具有II和ID基因型的患者相比,左心室质量(LVM)、后壁厚度(PWT)和室间隔厚度(IVS)显著更高(分别为P < 0.02、P < 0.003和P < 0.009)。与具有II和ID基因型的ADPKD ESRD患者相比,DD基因型在ADPKD合并ESRD的患者中更频繁出现,并且与LVH的更高发生率以及收缩-舒张功能障碍相关。

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