Fifteen minute consultation: managing children with HNF1B pathogenic variants

Abstract

Hepatocyte nuclear factor 1 beta ( HNF1B ) 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.