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      Practical management of hyperinsulinism in infancy.

      Archives of Disease in Childhood. Fetal and Neonatal Edition

      Genetic Therapy, Genotype, Humans, Hyperinsulinism, diagnosis, etiology, therapy, Infant, Phenotype, Referral and Consultation, Risk Factors, Treatment Outcome

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          Abstract

          Hyperinsulinism in infancy is one of the most difficult problems to manage in contemporary paediatric endocrinology. Although the diagnosis can usually be achieved without difficulty, it presents the paediatrician with formidable day to day management problems. Despite recent advances in understanding the pathophysiology of hyperinsulinism, the neurological outcome remains poor, and there is often a choice of unsatisfactory treatments, with life long sequelae for the child and his or her family. This paper presents a state of the art overview on management derived from a consensus workshop held by the European network for research into hyperinsulinism (ENRHI). The consensus is presented as an educational aid for paediatricians and children's nurses. It offers a practical guide to management based on the most up to date knowledge. It presents a proposed management cascade and focuses on the clinical recognition of the disease, the immediate steps that should be taken to stabilise the infant during diagnostic investigations, and the principles of definitive treatment.

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          10685981
          1721064

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