The Enigma of Clinical Heterogeneity Among Autosomal Recessive Polycystic Kidney Disease Siblings: Genotype Versus Other Genomic or Environmental Modifier.
作者信息
Meena Priti, Hopp Katharina
机构信息
Department of Nephrology, All India Institute Medical Sciences, Bhubaneswar, India.
Division of Renal Diseases and Hypertension, Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
出版信息
Kidney Int Rep. 2022 May 2;7(7):1453-1455. doi: 10.1016/j.ekir.2022.04.092. eCollection 2022 Jul.
Abstract
摘要
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Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.常染色体隐性多囊肾病患者兄弟姐妹的表型变异性
Kidney Int Rep. 2022 May 4;7(7):1643-1652. doi: 10.1016/j.ekir.2022.04.095. eCollection 2022 Jul.
2
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.在 304 名常染色体隐性多囊肾病患者和 PKHD1 基因突变体中，对基因型-表型相关性进行精细化研究。
Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30.
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Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD).常染色体隐性遗传性多囊肾病（ARPKD）青年患者的临床病程和并发症。
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Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.常染色体隐性遗传性多囊肾病：一种肝-肾纤维囊性疾病，具有多种表现型效应。
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Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).164例常染色体隐性多囊肾病（ARPKD）患者PKHD1突变的临床后果
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Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.常染色体隐性多囊肾病（ARPKD）在同胞中的病程：20个同胞对的临床比较
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Prenatal diagnosis of autosomal recessive polycystic kidney disease: variable outcome within one family.常染色体隐性多囊肾病的产前诊断：一个家族内的不同结局
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