Fifteen minute consultation: managing children with <i>HNF1B</i> pathogenic variants
) related disease is associated with multisystem involvement, most commonly renal developmental disorders and diabetes alongside a spectrum of other clinical features. With the increasing availability of genomic testing, paediatricians across multiple specialties are more frequently encountering children with pathogenic HNF1B variants. This review provides a practical guide for paediatricians on the management and long-term follow-up of affected children.
Authors
- Yincent Tse (ORCID: https://orcid.org/0000-0003-3175-1475)
- Coralie Bingham (ORCID: https://orcid.org/0009-0006-7961-2262)
- J. K. Reid
- Salma Mohamed
- Jennifer Ruth O’Gorman (ORCID: https://orcid.org/0000-0001-5322-4129)
Institutions
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Gateshead Health NHS Foundation Trust (GB)
- Great North Children's Hospital (GB)
Publication Details
- Journal
- Archives of Disease in Childhood Education & Practice
- Published
- 2026-08-14
- DOI
- https://doi.org/10.1136/archdischild-2026-330293
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00