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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5324%21RIV10-MZ0-11130___
rdf:type
n11:Vysledek skos:Concept
dcterms:description
Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes. Fifty PKD1 children and ten PKD2 children were investigated. Their mean age was similar (8.6 +/- 5.4 years and 8.9 +/- 5.6 years). Renal ultrasound was performed, and office blood pressure (BP), ambulatory BP, creatinine clearance and proteinuria were measured. The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 +/- 12.5 vs 3.0 +/- 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 +/- 1.22 standard deviation score (SDS) vs 0.17 +/- 1.03 SDS, P = 0.045, and 1.19 +/- 1.42 SDS vs 0.12 +/- 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 +/- 0.10 vs 0.86 +/- 0.05, P = 0.021 and 0.94 +/- 0.07 vs 0.89, P=0.037) Adults with autosomal dominant polycystic kidney disease (ADPKD) and PKD1 mutations have a more severe disease than do patients with PKD2 mutations. The aim of this study was to compare phenotypes between children with mutations in the PKD1/PKD2 genes. Fifty PKD1 children and ten PKD2 children were investigated. Their mean age was similar (8.6 +/- 5.4 years and 8.9 +/- 5.6 years). Renal ultrasound was performed, and office blood pressure (BP), ambulatory BP, creatinine clearance and proteinuria were measured. The PKD1 children had, in comparison with those with PKD2, significantly greater total of renal cysts (13.3 +/- 12.5 vs 3.0 +/- 2.1, P = 0.004), larger kidneys [right/left kidney length 0.89 +/- 1.22 standard deviation score (SDS) vs 0.17 +/- 1.03 SDS, P = 0.045, and 1.19 +/- 1.42 SDS vs 0.12 +/- 1.09 SDS, P = 0.014, successively] and higher ambulatory day-time and night-time systolic BP (day-time/night-time BP index 0.93 +/- 0.10 vs 0.86 +/- 0.05, P = 0.021 and 0.94 +/- 0.07 vs 0.89, P=0.037)
dcterms:title
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease
skos:prefLabel
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease
skos:notation
RIV/00216208:11130/09:5324!RIV10-MZ0-11130___
n3:aktivita
n8:Z n8:P
n3:aktivity
P(NR9427), Z(MSM0021620819), Z(MZ0FNM2005)
n3:cisloPeriodika
5
n3:dodaniDat
n12:2010
n3:domaciTvurceVysledku
n9:2412721 n9:7517890 n9:2905922 n9:1918923
n3:druhVysledku
n16:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
316217
n3:idVysledku
RIV/00216208:11130/09:5324
n3:jazykVysledku
n19:eng
n3:klicovaSlova
Autosomal dominant polycystic kidney disease; PKD1 gene; PKD2 gene; Renal function; Ultrasound; Blood pressure; Hypertension; Children; renal-disease; clinical-features; blood-pressure; in-utero; pkd2; prognosis; gene; adolescents; progression; childhood
n3:klicoveSlovo
n4:pkd2 n4:childhood n4:adolescents n4:blood-pressure n4:progression n4:Renal%20function n4:prognosis n4:clinical-features n4:renal-disease n4:Blood%20pressure n4:Ultrasound n4:PKD1%20gene n4:Children n4:PKD2%20gene n4:gene n4:in-utero n4:Hypertension n4:Autosomal%20dominant%20polycystic%20kidney%20disease
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[1098634375B6]
n3:nazevZdroje
Pediatric Nephrology
n3:obor
n10:FG
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
7
n3:projekt
n14:NR9427
n3:rokUplatneniVysledku
n12:2009
n3:svazekPeriodika
24
n3:tvurceVysledku
Bláhová, Květa Hříbal, Zdeněk Fencl, Filip Janda, Jan Seeman, Tomáš Stekrova, J. Puchmajerová, Alena
n3:wos
000264535700007
n3:zamer
n17:MSM0021620819 n17:MZ0FNM2005
s:issn
0931-041X
s:numberOfPages
7
n18:organizacniJednotka
11130