ArticlePediatric nephrology (Berlin, Germany)2009
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.
Article in Pediatric nephrology (Berlin, Germany), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- Pooled it
- International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.Nature reviews. Nephrology · 2019Guideline
- Predictors of autosomal dominant polycystic kidney disease progression.Journal of the American Society of Nephrology : JASN · 2014Pooled it
- Estimating risk of rapid disease progression in pediatric patients with autosomal dominant polycystic kidney disease: a randomized trial of tolvaptan.Pediatric nephrology (Berlin, Germany) · 2024Trial
- Effect of pravastatin on total kidney volume, left ventricular mass index, and microalbuminuria in pediatric autosomal dominant polycystic kidney disease.Clinical journal of the American Society of Nephrology : CJASN · 2014Trial
- Very-early-onset autosomal dominant polycystic kidney disease coexisting with congenital adrenal hyperplasia in a newborn: a case report.Childhood kidney diseases · 2026Article
- Polycystins recruit cargo to distinct ciliary extracellular vesicle subtypes in C. elegans.Nature communications · 2025Article
- Kidney Measurement and Glomerular Filtration Rate Evolution in Children with Polycystic Kidney Disease.Children (Basel, Switzerland) · 2024Article
- Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.Children (Basel, Switzerland) · 2024Article
- Autosomal dominant polycystic kidney disease in young adults.Clinical kidney journal · 2023Article
- The wind of change in the management of autosomal dominant polycystic kidney disease in childhood.Pediatric nephrology (Berlin, Germany) · 2022Review
- Increasing prevalence of hypertension during long-term follow-up in children with autosomal dominant polycystic kidney disease.Pediatric nephrology (Berlin, Germany) · 2021Article
- Tolvaptan in Pediatric Autosomal Dominant Polycystic Kidney Disease: From Here to Where?Kidney diseases (Basel, Switzerland) · 2021Review
- ADPedKD: A Global Online Platform on the Management of Children With ADPKD.Kidney international reports · 2019Article
- GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.Frontiers in genetics · 2019Article
- Unmet needs and challenges for follow-up and treatment of autosomal dominant polycystic kidney disease: the paediatric perspective.Clinical kidney journal · 2018Review
- Antenatally Diagnosed ADPKD.Kidney international reports · 2018Article
- The spectrum of autosomal dominant polycystic kidney disease in children and adolescents.Pediatric nephrology (Berlin, Germany) · 2017Review
- Autosomal dominant polycystic kidney disease in children.Current opinion in pediatrics · 2015Review
- Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms.Pediatric nephrology (Berlin, Germany) · 2010Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 +/- 0.04, P = 0.037, successively). There were no significant differences in office BP, creatinine clearance or proteinuria. Prenatal renal cysts (14%), hypertension defined by ambulatory BP (27%) and enlarged kidneys (32%) were observed only in the PKD1 children. This is the first study on genotype-phenotype correlation in children with ADPKD. PKD1 children have more and larger renal cysts, larger kidneys and higher ambulatory BP than do PKD2 children. Renal cysts and enlarged kidneys detected prenatally are highly specific for children with PKD1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.