Shukoor Shehbaz S, Vaughan Lisa E, Edwards Marie E, Lavu Sravanthi, Kline Timothy L, Senum Sarah R, Mkhaimer Yaman, Zaatari Ghaith, Irazabal Maria V, Neal Reem, Hogan Marie C, Zoghby Ziad M, Harris Peter C, Torres Vicente E, Chebib Fouad T
Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Division of Biostatistics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Kidney Int Rep. 2020 Dec 31;6(3):755-767. doi: 10.1016/j.ekir.2020.12.016. eCollection 2021 Mar.
Cystic expansion damaging the parenchyma is thought to lead to end-stage kidney disease (ESKD) in autosomal dominant polycystic kidney disease (ADPKD). Here we characterized genotypic and phenotypic attributes of ADPKD at time of ESKD.
This is a retrospective cross-sectional study of patients with ADPKD with ESKD evaluated at Mayo Clinic with available abdominal computed tomography (CT) or magnetic resonance imaging (MRI). Kidney volumes were measured (total kidney volume adjusted for height [HtTKV]), Mayo Image Class (MIC) calculated, ADPKD genotype determined, and clinical and laboratory features obtained from medical records.
Differences in HtTKV at ESKD were associated with patient age and sex; older patients and women had smaller HtTKV at ESKD. HtTKV at ESKD was observed to be 12.3% smaller with each decade of age ( < 0.01); but significant only in women (17.8%, < 0.01; men 6.9%, = 0.06). Patients with onset of ESKD at <47, 47-61, or >61 years had different characteristics, with a shift from youngest to oldest in male to female enrichment, MIC from 1D/1E to 1B/1C, likely fully penetrant mutations from 95% to 42%, and presence of macrovascular disease from 8% to 40%. Macrovascular disease was associated with smaller kidneys in female patients.
HtTKV at ESKD was smaller with advancing age in patients with ADPKD, particularly in women. These novel findings provide insight into possible underlying mechanisms leading to ESKD, which differ between younger and older individuals. Cystic growth is the predominant mechanism in younger patients with ESKD, whereas aging-related factors, including vascular disease, becomes potentially important as patients age.
在常染色体显性多囊肾病（ADPKD）中，损害实质的囊性扩张被认为会导致终末期肾病（ESKD）。在此，我们对ESKD时ADPKD的基因型和表型特征进行了描述。
这是一项对在梅奥诊所接受评估的患有ESKD的ADPKD患者进行的回顾性横断面研究，这些患者有可用的腹部计算机断层扫描（CT）或磁共振成像（MRI）。测量肾脏体积（根据身高调整的总肾脏体积 [HtTKV]），计算梅奥影像分类（MIC），确定ADPKD基因型，并从病历中获取临床和实验室特征。
ESKD时HtTKV的差异与患者年龄和性别相关；老年患者和女性在ESKD时的HtTKV较小。观察到ESKD时HtTKV每增加十岁就会减小12.3%（<0.01）；但仅在女性中显著（17.8%，<0.01；男性为6.9%，=0.06）。ESKD发病年龄<47岁、47 - 61岁或>61岁的患者具有不同特征，从最年轻到最年长，男性与女性的富集情况发生变化，MIC从1D/1E变为1B/1C，可能完全显性的突变从95%降至42%，大血管疾病的发生率从8%升至40%。大血管疾病与女性患者较小的肾脏有关。
ADPKD患者ESKD时的HtTKV随着年龄增长而减小，尤其是在女性中。这些新发现为导致ESKD的潜在机制提供了见解，这些机制在年轻和老年个体之间有所不同。囊性生长是年轻ESKD患者的主要机制，而随着患者年龄增长，包括血管疾病在内的与衰老相关的因素可能变得至关重要。
