Clinical review outlines practical management strategies and long-term follow-up for children with HNF1B pathogenic variants, highlighting the need for multidisciplinary pediatric care.
) 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.
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O’Gorman et al. (2026) studied this question.
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