Long Term Medical Treatment of Congenital Hyperinsulinaemic Hypoglycaemia

نویسندگان

  • Noman Ahmad
  • Mohamad Sharkia
  • Laura Stewart
چکیده

1Department of Endocrinology, King Faisal Specialist Hospital and Research Centre Jeddah, Saudi Arabia 2Department of Paediatric Endocrinology, British Columbia Children Hospital Vancouver, Canada 3Department of Paediatrics, University of British Columbia, Consultant Paediatric Endocrinologist British Columbia Children Hospital Vancouver, Canada Journal of Endocrinology and Diabetes Open Access Research Article

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Diagnosis and management of hyperinsulinaemic hypoglycaemia of infancy.

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Hyperinsulinaemic hypoglycaemia in small for dates babies

Blood glucose concentrations were measured prospectively in 27 small for dates infants in the first 48 hours after birth: 10 infants became hypoglycaemic. Of these, five had inappropriately raised plasma insulin concentrations. Plasma free fatty acids were lower and carbohydrate intake higher in these five infants, further supporting the diagnosis of hyperinsulinism. The hypoglycaemia recurred ...

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%-50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guid...

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A Diagnostic Challenge in the Management of Unlocalised Persistent Hyperinsulinaemic Hypoglycaemia of Infancy: A Case Report and Review of Literature

Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is an uncommon condition that leads to hypoglycaemia in newborn or infancy. The responsible lesion can be either focal or diffuse within the pancreas. Being a rare disease entity in our locality, we describe our experience in managing an infant with focal PHHI that could not be localised by pre-operative investigations. Furthermore, a...

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تاریخ انتشار 2014