scholarly journals Pretransplant Genetic Testing of Live Kidney Donors at Risk for Autosomal Dominant Polycystic Kidney Disease

2009 ◽  
Vol 87 (1) ◽  
pp. 6-7 ◽  
Author(s):  
Jon D. Blumenfeld
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Kidney Donors ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals DNA Testing for Live Kidney Donors at Risk for Autosomal Dominant Polycystic Kidney Disease

2009 ◽  
Vol 87 (1) ◽  
pp. 133-137 ◽  
Author(s):  
Edmund Huang ◽  
Millie Samaniego-Picota ◽  
Thomas McCune ◽  
Joseph K. Melancon ◽  
Robert A. Montgomery ◽  
...  
Keyword(s):  
At Risk ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Dna Testing ◽  
Polycystic Kidney ◽  
Kidney Donors ◽  
Autosomal Dominant Polycystic Kidney

Renal Ultrasonographic Evaluation in Children at Risk of Autosomal Dominant Polycystic Kidney Disease

2010 ◽  
Vol 56 (1) ◽  
pp. 50-56 ◽  
Author(s):  
Berenice Reed ◽  
Ehsan Nobakht ◽  
Sherry Dadgar ◽  
Mir Reza Bekheirnia ◽  
Amirali Masoumi ◽  
...  
Keyword(s):  
At Risk ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Children At Risk ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Kidney Function and Plasma Copeptin Levels in Healthy Kidney Donors and Autosomal Dominant Polycystic Kidney Disease Patients

2014 ◽  
Vol 9 (9) ◽  
pp. 1553-1562 ◽  
Author(s):  
Debbie Zittema ◽  
Else van den Berg ◽  
Esther Meijer ◽  
Wendy E. Boertien ◽  
Anneke C. Muller Kobold ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Kidney Function ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Kidney Donors ◽  
Autosomal Dominant Polycystic Kidney

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease

2018 ◽  
Vol 34 (9) ◽  
pp. 1453-1460 ◽  
Author(s):  
Matthew B Lanktree ◽  
Ioan-Andrei Iliuta ◽  
Amirreza Haghighi ◽  
Xuewen Song ◽  
York Pei
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Mutation Screening ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Abstract Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by mutations of two genes, PKD1 and PKD2. In the presence of a positive family history of ADPKD, genetic testing is currently seldom indicated as the diagnosis is mostly based on imaging studies using well-established criteria. Moreover, PKD1 mutation screening is technically challenging due to its large size, complexity (i.e. presence of six pseudogenes with high levels of DNA sequence similarity) and extensive allelic heterogeneity. Despite these limitations, recent studies have delineated a strong genotype–phenotype correlation in ADPKD and begun to unravel the role of genetics underlying cases with atypical phenotypes. Furthermore, adaptation of next-generation sequencing (NGS) to clinical PKD genetic testing will provide a high-throughput, accurate and comprehensive screen of multiple cystic disease and modifier genes at a reduced cost. In this review, we discuss the evolving indications of genetic testing in ADPKD and how NGS-based screening promises to yield clinically important prognostic information for both typical as well as unusual genetic (e.g. allelic or genic interactions, somatic mosaicism, cystic kidney disease modifiers) cases to advance personalized medicine in the era of novel therapeutics for ADPKD.

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