Pediatric Hepatocyte Nuclear Factor 1B ( HNF1B ) Disease: Diabetes and Endocrine Manifestations
Authors' conclusion
This case series represents one of the largest pediatric HNF1B-related disease cohorts at a single center. The majority of patients with diabetes presented with clinical features distinct from Type 1 or Type 2 diabetes.
Study context
- Population
- Children with HNF1B genetic variants, Children's Hospital of Philadelphia Atypical Diabetes Registry, 2013–2022
- Participants
- 11 children
- Outcome
- Clinical characteristics of pediatric HNF1B disease
Methodological detailssingle-centre, registry-based
- Single-centre
- Registry-based
Main finding
As reported in the abstract
- Initially presented with diabetes (MODY5)
- 7 (64%)
- Diagnosed based on family history or genetic evaluation of renal disease
- 4 (36%)
- Presented with DKA
- 1
- Presented with diabetic ketosis
- 3
- Developed diabetes during the study, of 4 identified by familial mutation analysis or renal disease
- 2
- TG >90 mg/dL
- 10
- LDL-C >110 mg/dL
- 5
- HDL-C <45
- 5
- Non-HDL cholesterol >120 mg/dL
- 7/11
- Hyperparathyroidism with PTH (>65 pg/mL) and calcium >9 mg/dL
- Over half of the subjects
Observational data: associations, not effects.
Original publication
Pediatric Hepatocyte Nuclear Factor 1B ( HNF1B ) Disease: Diabetes and Endocrine Manifestations. Pediatr Diabetes. Published 27 April 2025. doi:10.
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