Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant polycystic kidney disease (ADPKD), caused by mutations in either PKD1 or PKD2 genes, is one of the most common human monogenetic disorders and the leading genetic cause of end-stage renal disease.
|
31515477 |
2019 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In frailty model controlled for age, gender, and familial clustering effect, PKD2 genotype had 0.2 times lower risk for reaching ESRD than PKD1-PT genotype (p = 0.037).
|
31740684 |
2019 |
Chronic kidney disease stage 5
|
0.200 |
Biomarker
|
disease |
BEFREE |
The proband, with an extremely serious manifestation of ADPKD (the man was diagnosed in early childhood, and with end stage renal disease aged 23), underwent genetic analysis of PKD1 and PKD2, which revealed the presence of pathogenic mutations in both of these genes.
|
29973168 |
2018 |
Chronic kidney disease stage 5
|
0.200 |
Biomarker
|
disease |
BEFREE |
While 4 individuals had ADPKD-PKD2, various COL4A1-related phenotypes were identified in 5 patients, and 3 individuals with likely digenic PKD2/COL4A1 disease reached end-stage renal disease at around 50 years of age, significantly earlier than observed for either monogenic disorder.
|
29395486 |
2018 |
Chronic kidney disease stage 5
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD).
|
29606500 |
2018 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation.
|
23496908 |
2013 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, with larger kidneys and earlier onset of end-stage renal disease.
|
21071968 |
2011 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PKD2 gene cause autosomal dominant polycystic kidney disease (ADPKD), a common, inherited disease that frequently leads to end-stage renal disease (ESRD).
|
21277361 |
2011 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Although the clinical manifestations of both gene types overlap completely, PKD1 is associated with more severe disease than PKD2, with bigger kidneys and earlier onset of end-stage renal disease.
|
20807608 |
2010 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
ADPKD caused by PKD2 mutations is characterized by a longer survival and a later onset of end-stage renal disease than ADPKD caused by PKD1 mutations.
|
17100995 |
2006 |
Chronic kidney disease stage 5
|
0.200 |
Biomarker
|
disease |
BEFREE |
The age of 63 was used as the cut-off because it is between the recently published ages of onset of ESRF for PKD1 and PKD2.
|
14993477 |
2004 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Locus heterogeneity is a major determinant for interfamilial disease variability (i.e., patients from PKD1-linked families have a significantly earlier onset of ESRD compared with patients from PKD2-linked families).
|
12707387 |
2003 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We analyzed all exons and intron-exon boundaries of the PKD2 gene by single-strand conformation polymorphism analysis and silver staining technique in 46 patients with ADPKD who reached ESRD after the age of 63 years or were not yet undergoing renal replacement therapy (RRT) by that age.
|
11007674 |
2000 |
Chronic kidney disease stage 5
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Renal cysts developed at an earlier age in PKD1 mutation carriers, and end stage renal failure occurred at an older age in people affected with PKD2.
|
7666395 |
1995 |
Chronic kidney disease stage 5
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|