Multisystem developmental abnormalities and insulin resistance in ADTKD ‐ HNF1B with the p. E105K variant: A clinical conundrum
Authors' conclusion
This case suggests a possible expansion of the p.E105K phenotypic spectrum and indicates that insulin resistance in ADTKD-HNF1B is best interpreted as multifactorial and predominantly chronic kidney disease-driven rather than variant-specific.
Study context
- Population
- 15-year-old male proband with CKD and multisystem developmental abnormalitiesproband
- Participants
- 1 participants
- Outcome
- Phenotype and genotype of proband
Methodological detailstrio-based whole-exome sequencing, Variant classified by American College of Medical Genetics and Genomics/Association for Molecular Pathology criteria
- Trio-based whole-exome sequencing
- Variant classified by American College of Medical Genetics and Genomics/Association for Molecular Pathology criteria
Main finding
As reported in the abstract
OGTT: impaired glucose tolerance with postprandial hyperinsulinaemia and preserved β-cell function; 2-h insulin
3556 pmol/L
Further findings
Family segregation
- Mother, with diabetes and normal renal morphology, carried the same variant
Original publication
Multisystem developmental abnormalities and insulin resistance in ADTKD ‐ HNF1B with the p. E105K variant: A clinical conundrum. Diabet Med. Published 30 September 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →