About: Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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) (en)
Title	Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease (en)
skos:prefLabel	Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease (en)
skos:notation	RIV/00216208:11130/09:5324!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9427), Z(MSM0021620819), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	5
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Janda, Jan Seeman, Tomáš Bláhová, Květa Fencl, Filip
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	316217
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5324
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/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 (en)
http://linked.open.../riv/klicoveSlovo	pkd2 renal-disease Autosomal dominant polycystic kidney disease PKD1 gene PKD2 gene Children Renal function Ultrasound progression gene adolescents childhood prognosis in-utero Blood pressure Hypertension blood-pressure clinical-features
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[1098634375B6]
http://linked.open...i/riv/nazevZdroje	Pediatric Nephrology
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	Screening of mutations in the duplicated region of the PKD1 gene from families with autosomal dominant polycystic kidney disease
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	24
http://linked.open...iv/tvurceVysledku	Janda, Jan Seeman, Tomáš Bláhová, Květa Hříbal, Zdeněk Fencl, Filip Puchmajerová, Alena Stekrova, J.
http://linked.open...ain/vavai/riv/wos	000264535700007
http://linked.open...n/vavai/riv/zamer	Náhrada a podpora funkce některých životně důležitých orgánů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0931-041X
number of pages	7 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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