Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease
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DOI：
10.1681/asn.2015060648
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发表时间：
2016-06-01
影响因子：
13.6
通讯作者：
Pei, York
中科院分区：
文献类型：
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作者：
Hwang, Young-Hwan;Conklin, John;Pei, York
常染色体显性遗传性多囊肾病（ADPKD）的肾脏疾病变异性受基因位点（PKD1与PKD2）的强烈影响。最近的研究发现，在接受全面突变筛查的患者中，约有30%的患者存在非截短型PKD1突变，但这些突变的临床意义尚未明确。我们在一个前瞻性队列中研究了220个通过血清肌酐先证者确定的不相关ADPKD家族的基因型与肾功能的相关性
Renal disease variability in autosomal dominant polycystic kidney disease (ADPKD) is strongly influenced by the gene locus (PKD1 versus PKD2). Recent studies identified nontruncating PKD1 mutations in approximately 30% of patients who underwent comprehensive mutation screening, but the clinical significance of these mutations is not well defined. We examined the genotype-renal function correlation in a prospective cohort of 220 unrelated ADPKD families ascertained through probands with serum creatinine