Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease
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在成人散发性多囊肾病中，肾脏增大和多发性肝囊肿形成提示存在PKD1/2基因突变 。
DOI：
10.1111/cge.13249
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发表时间：
2018-07-01
影响因子：
3.5
通讯作者：
Sohara, E.
中科院分区：
文献类型：
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作者：
Fujimaru, T.;Mori, T.;Sohara, E.
在无家族史的成人多囊肾患者中，将常染色体显性多囊肾病（ADPKD）与其他遗传性肾囊肿疾病区分开来，对于正确治疗和适当的遗传咨询至关重要。然而，对于没有家族史的患者，没有明确的影像学检查结果可以提供明确的ADPKD诊断。我们分析了53例无家族史的成人多囊肾患者。使用基于捕获的下一代测序对目前已知导致遗传性肾囊肿疾病（包括ADPKD）的69个基因进行了全面的基因检测。通过我们的分析，32例患者有PKD1或PKD2突变。此外，3例NPHP4、PKHD1和OFD 1致病突变患者被诊断为ADPKD以外的遗传性肾囊肿。在PKD1或PKD2突变的患者中，多囊肝病（定义为超过20个肝囊肿）的患病率显著较高（71.9% vs 33.3%，P = .006），肾脏总体积显著增加（中位数，1580.7 mL vs 791.0 mL，P = 0.027），平均动脉压显著较高（中位数，98 mm Hg vs 91 mm Hg，P = 0.012）。这里描述的遗传筛查方法和临床特征对于成人散发性多囊肾病患者的最佳管理可能是有益的。
Distinguishing autosomal-dominant polycystic kidney disease (ADPKD) from other inherited renal cystic diseases in patients with adult polycystic kidney disease and no family history is critical for correct treatment and appropriate genetic counseling. However, for patients with no family history, there are no definitive imaging findings that provide an unequivocal ADPKD diagnosis. We analyzed 53 adult polycystic kidney disease patients with no family history. Comprehensive genetic testing was performed using capture-based next-generation sequencing for 69 genes currently known to cause hereditary renal cystic diseases including ADPKD. Through our analysis, 32 patients had PKD1 or PKD2 mutations. Additionally, 3 patients with disease-causing mutations in NPHP4, PKHD1, and OFD1 were diagnosed with an inherited renal cystic disease other than ADPKD. In patients with PKD1 or PKD2 mutations, the prevalence of polycystic liver disease, defined as more than 20 liver cysts, was significantly higher (71.9% vs 33.3%, P = .006), total kidney volume was significantly increased (median, 1580.7 mL vs 791.0 mL, P = .027) and mean arterial pressure was significantly higher (median, 98 mm Hg vs 91 mm Hg, P = .012). The genetic screening approach and clinical features described here are potentially beneficial for optimal management of adult sporadic polycystic kidney disease patients.