scholarly journals Attitudes in Patients with Autosomal Dominant Polycystic Kidney Disease Toward Prenatal Diagnosis and Preimplantation Genetic Diagnosis

2016 ◽  
Vol 20 (12) ◽  
pp. 741-746 ◽  
Author(s):  
Oscar Swift ◽  
Enric Vilar ◽  
Belinda Rahman ◽  
Lucy Side ◽  
Daniel P. Gale
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Preimplantation Genetic Diagnosis ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Novel PKD1 Mutations in Patients with Autosomal Dominant Polycystic Kidney Disease

2020 ◽  
Author(s):  
Hyerin Kim ◽  
Hyung-Hoi Kim ◽  
Chulhun L Chang ◽  
Sang Heon Song ◽  
Namhee Kim
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
Diagnostic Tools ◽  
Polycystic Kidney ◽  
Prognostic Information ◽  
Panel Test ◽  
Autosomal Dominant Polycystic Kidney ◽  
Clinically Significant

Abstract Objective Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease. Identifying mutated causative genes can provide diagnostic and prognostic information. In this study, we describe the clinical application of a next generation sequencing (NGS)-based, targeted multi-gene panel test for the genetic diagnosis of patients with ADPKD. Methods We applied genetic analysis on 26 unrelated known or suspected patients with ADPKD. A total of 10 genes related to cystic change of kidney were targeted. Detected variants were classified according to standard guidelines. Results We identified 19 variants (detection rate: 73.1%), including PKD1 (n = 18) and PKD2 (n = 1). Of the 18 PKD1 variants, 8 were novel. Conclusion Multigene panel test can be a comprehensive tool in a clinical setting for genetic diagnosis of ADPKD. It allows us to identify clinically significant novel variants and confirm the diagnosis, and these objectives are difficult to achieve using conventional diagnostic tools.

Autosomal dominant polycystic kidney disease: Prenatal diagnosis by DNA analysis and sonography at 14 weeks

1989 ◽  
Vol 9 (11) ◽  
pp. 751-758 ◽  
Author(s):  
I. Ceccherini ◽  
M. Lituania ◽  
M. S. Cordone ◽  
F. Perfumo ◽  
R. Gusmano ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Dna Analysis ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Unexpected ultrasonographic prenatal diagnosis of autosomal dominant polycystic kidney disease

1989 ◽  
Vol 9 (9) ◽  
pp. 663-671 ◽  
Author(s):  
H. Journel ◽  
C. Guyot ◽  
R. M. Barc ◽  
P. Belbeoch ◽  
A. Quemener ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney
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