Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease
Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease
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DOI：
10.1093/ndt/gfw008
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发表时间：
2016-06-01
影响因子：
6.1
通讯作者：
El-Zoghby, Ziad M.
中科院分区：
文献类型：
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作者：
Chebib, Fouad T.;Jung, Yeonsoon;El-Zoghby, Ziad M.
背景。常染色体显性多囊肾病 (APDKD) 基因型影响肾脏表型的严重程度，但其对多囊肝病 (PLD) 的影响尚不清楚。这里我们分析了基因型对肝脏表型严重程度的影响。方法。临床数据取自使用现有肝脏成像进行突变筛查的患者的电子记录（n = 434）。通过体视学（轴向或冠状图像）测量肝脏体积并调整至高度（HtLV）。结果。在纳入的患者中，221 例 (50.9%) 具有截短 PKD1 (PKD1-T)、141 例 (32.5%) 具有非截断 PKD1 (PKD1-NT) 和 72 例 (16.6%) PKD2 突变。与 PKD1-NT 和 PKD2 相比，PKD1-T 患者的高度调整总肾体积更大（799 vs 610 和 549 mL/m；P < 0.001）。三组之间的 HtLV 没有差异（1042、1095 和 1058 mL/m；P = 0.64），但女性的 HtLV 高于男性（1114 vs 1015 mL/m；P < 0.001）。 PKD1-T、PKD1-NT 和 PKD2 突变的年化中位肝脏生长率分别为 1.68%、1.5% 和 1.24%（P = 0.49），并且在调整年龄、性别和基线 HtLV 后，仍然不受 ADPKD 基因型的影响。女性
Background. The autosomal dominant polycystic kidney disease (APDKD) genotype influences renal phenotype severity but its effect on polycystic liver disease (PLD) is unknown. Here we analyzed the influence of genotype on liver phenotype severity.Methods. Clinical data were retrieved from electronic records of patients who were mutation screened with the available liver imaging (n = 434). Liver volumes were measured by stereology (axial or coronal images) and adjusted to height (HtLV).Results. Among the patients included, 221 (50.9%) had truncating PKD1 (PKD1-T), 141 (32.5%) nontruncating PKD1 (PKD1-NT) and 72 (16.6%) PKD2 mutations. Compared with PKD1-NT and PKD2, patients with PKD1-T had greater height-adjusted total kidney volumes (799 versus 610 and 549 mL/m; P < 0.001). HtLV was not different (1042, 1095 and 1058 mL/m; P = 0.64) between the three groups, but females had greater HtLVs compared with males (1114 versus 1015 mL/m; P < 0.001). Annualized median liver growth rates were 1.68, 1.5 and 1.24% for PKD1-T, PKD1-NT and PKD2 mutations, respectively (P = 0.49), and remained unaffected by the ADPKD genotype when adjusted for age, gender and baseline HtLV. Females