ArticlePediatric diabetes2020
A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.
Article in Pediatric diabetes, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 23 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
- Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort.Journal of clinical medicine · 2026Article
- 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
- Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review.Molecular and cellular pediatrics · 2026Article
- Functional validation of a non-canonical HNF1B splice-site variant in MODY5.Frontiers in endocrinology · 2026Article
- 17q12 Recurrent Deletion Syndrome in Childhood.Genes · 2025Review
- Zebrafish as an effective model for accelerating diabetes research from discovery to therapy.Journal of diabetes and metabolic disorders · 2025Review
- Genetic variants and characterization of MODY in a single, large pediatric referral center.Journal of clinical & translational endocrinology · 2025Article
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- [Research advances in maturity-onset diabetes of the young].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Pediatric Hepatocyte Nuclear Factor 1B (Pediatric diabetes · 2025Article
- Prenatal diagnosis, ultrasound findings, and pregnancy outcome of 17q12 deletion and duplication syndromes: a retrospective case series.Archives of gynecology and obstetrics · 2024Article
- Exploring the impact and utility of genomic sequencing in established CKD.Clinical kidney journal · 2024Review
- Large Kidney Cysts inCanadian journal of kidney health and disease · 2024Article
- Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia.Journal of personalized medicine · 2023Article
- The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.International journal of molecular sciences · 2022Article
- Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome.BMC endocrine disorders · 2022Article
- Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.International journal of molecular sciences · 2021Review
- Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.The American journal of case reports · 2021Article
- Remus: A Web Application for Prioritization of Regulatory Regions and Variants in Monogenic Diseases.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND/
objectivesPatients referred for HNF1B testing present very heterogeneous phenotypes. Despite suggestive characteristics, many do not harbor mutations in HNF1B. Our objective was to evaluate the clinical characteristics of probands referred for HNF1B genetic testing through a nationwide monogenic diabetes screening program.
methodsProbands tested for HNF1B mutations in the 2005-2018 period (N = 50) were identified in the Polish Monogenic Diabetes Registry, which prospectively recruits primarily pediatric patients and their families on a nationwide scale. Variants that had been reported pathogenic were reassessed using criteria of the American College of Medical Genetics and Genomics (ACMG). A structured medical interview was performed with all available individuals, their parents, and/or their physicians. For each patient, HNF1B score was calculated based on available clinical information.
resultsThe study group numbered 36 unrelated probands (28% lost to follow-up): 14 with pathogenic or likely-pathogenic variants in HNF1B, one with a variant of uncertain significance, and 21 negative for HNF1B mutations. Presence of cystic kidneys (OR = 9.17, 95% CI:1.87-44.92), pancreatic abnormalities (OR = 15, 95% CI:1.55-145.23), elevated liver enzymes (OR = 15, 95% CI:1.55-145.23) best discriminated HNF1B-positive cases from the negative ones. Presence of impaired glucose tolerance coupled with kidney disease in the proband and one parent was also highly predictive for HNF1B mutations (OR = 11.11, 95% CI:1.13-109.36). HNF1B-score with recommended cutoff distinguished patients with and without HNF1B findings with 100% sensitivity and 47.6% specificity. Addition of four clinical variables to select patients based on HNF1B score improved specificity to 71.4% (95% CI:47.8%-88.7%) while retaining 100% sensitivity.
conclusionsDetailed medical interview may enable more accurate patient selection for targeted genetic testing.
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