CONCLUSIONS: According to the literature data, both higher LVM and vascular dysfunction already occur in children and young adults with normal renal function and without HT. Moreover, biventricular diastolic dysfunction, endothelial dysfunction, increased carotid intima-media thickness, and impaired coronary flow velocity reserve are present even in young patients with ADPKD who have normal HT and well-preserved renal function. In patients with ADPKD, hypertension has some specific features; in the youngest age group of children, the prevalence of hypertension is greater if their parents suffer from hypertension; in normotensive young ADPKD-diagnosed individuals, ambulant SBP and DBP values were significantly higher than in age- and gender-matched controls; hypertension appears at least 10 years earlier than spontaneous HT in general population. In adults, HT is often diagnosed before any substantial reduction in the GFR, and a lower nocturnal dip in BP in comparison to hypertensives in the general population. PKD1 and PKD2 gene products (PC1 and PC2 proteins) have been shown to assemble at the plasma membrane and to regulate calcium (Ca2+) entry. A defect in Ca2+ binding mediated by mutations in polycystin proteins is a hypothetical factor contributing to left ventricular mass increase. Altered intracellular Ca2+ handling contributes importantly to impaired contractility associated with heart failure. Impairment of intracellular Ca2+ homeostasis and mitochondrial function has been implicated in the development of LVH.
CONCLUSIONS: It can be assumed that the cause of LVH in ADPKD patients is the natural course of this disease with developing HT and deteriorating kidney function, which may be influenced by the presence of PKD1- and PKD2-mutated gene products: PC1 and PC2 proteins.
结论:根据文献数据,较高的LVM和血管功能障碍已经发生在肾功能正常且无HT的儿童和年轻人中。此外,双心室舒张功能障碍,内皮功能障碍,颈动脉内膜中层厚度增加,即使在HT正常且肾功能良好的年轻ADPKD患者中,也存在冠状动脉血流速度储备受损。在ADPKD患者中,高血压有一些特殊的特征;在最年轻的儿童群体中,如果父母患有高血压,高血压的患病率更高;在血压正常的年轻ADPKD诊断个体中,动态SBP和DBP值显著高于年龄和性别匹配的对照组;在一般人群中,高血压出现至少比自发性HT早10年.在成年人中,HT通常在GFR任何实质性降低之前被诊断出来,与普通人群中的高血压相比,血压的夜间下降较低。PKD1和PKD2基因产物(PC1和PC2蛋白)已显示在质膜上组装并调节钙(Ca2)进入。多囊素蛋白突变介导的Ca2结合缺陷是导致左心室质量增加的假设因素。改变的细胞内Ca2+处理对与心力衰竭相关的收缩性受损有重要贡献。细胞内Ca2+稳态和线粒体功能的受损与LVH的发展有关。
结论:可以认为,ADPKD患者LVH的病因是本病的自然病程,伴随着HT的发展和肾功能的恶化,其可能受PKD1-和PKD2-突变的基因产物的存在的影响:PC1和PC2蛋白。