ArticlePediatric nephrology (Berlin, Germany)2011
HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Article in Pediatric nephrology (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00327860 (Chronic Kidney Disease in Children Prospective Cohort Study), which is not on this map. Cited by 73 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Chronic Kidney Disease in Children Prospective Cohort Study (CKiD)
Who cites it
73 citing papers in PubMed, 130 citations in OpenAlex.
- Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.Pediatric nephrology (Berlin, Germany) · 2024Trial
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Review
- HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.International journal of molecular sciences · 2026Article
- Chronic Kidney Disease in Children with Suspected Genetic Etiology: Diagnostic Yield and Clinical Implications.Journal of personalized medicine · 2026Article
- Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report.The American journal of case reports · 2026Article
- Neonatal Renal Ultrasound Reference Values in Romanian Term Newborns: Correlations with Anthropometric Characteristics.Children (Basel, Switzerland) · 2025Article
- Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Nature communications · 2025Article
- Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.European journal of human genetics : EJHG · 2025Article
- Drivers of vessel progenitor fate define intermediate mesoderm dimensions by inhibiting kidney progenitor specification.Developmental biology · 2025Article
- A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion ofInternational journal of molecular sciences · 2024Article
- Renal and Extrarenal Phenotypes in Patients WithKidney international reports · 2024Article
- Recurrent 17q12 microduplications contribute to renal disease but not diabetes.Journal of medical genetics · 2023Article
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- The causes and consequences of paediatric kidney disease on adult nephrology care.Pediatric nephrology (Berlin, Germany) · 2022Review
- Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.BMC nephrology · 2022Article
- Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome.Frontiers in pediatrics · 2022Article
- Blood pressure in children with renal cysts and diabetes syndrome.European journal of pediatrics · 2021Article
- Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing theTranslational pediatrics · 2021Article
- An infant with hyperechoic cystic kidneys and congenital diaphragmatic hernia: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Malformations of the kidney and lower urinary tract are the most frequent cause of end-stage renal disease in children. Mutations in HNF1Β and PAX2 commonly cause syndromic urinary tract malformation. We searched for mutations in HNF1Β and PAX2 in North American children with renal aplasia and hypodysplasia (RHD) enrolled in the Chronic Kidney Disease in Children Cohort Study (CKiD). We identified seven mutations in this multiethnic cohort (10% of patients). In HNF1Β, we identified a nonsense (p.R181X), a missense (p.S148L), and a frameshift (Y352fsX352) mutation, and one whole gene deletion. In PAX2, we identified one splice site (IVS4-1G>T), one missense (p.G24E), and one frameshift (G24fsX28) mutation. All mutations occurred in Caucasians, accounting for 14% of disease in this subgroup. The absence of mutations in other ethnicities is likely due to the limited sample size. There were no differences in clinical parameters (age, baseline eGFR, blood pressure, body mass index, progression) between patients with or without HNF1B and PAX2 mutations. A significant proportion of North American Caucasian patients with RHD carry mutations in HNF1Β or PAX2 genes. These patients should be evaluated for complications (e.g., diabetes for HNF1Β mutations, colobomas for PAX2) and referred for genetic counseling.
Indexed as
Identifiers
What OpenQuestion holds
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.