Hypoglycemie hyperinsulinemique persistante du nouveau-ne et du nourrisson

Translated title of the contribution: Persistent hypoglycaemia due to hyperinsulinism in newborns and infants

P. De Lonlay-Debeney, J. C. Fournet, D. Martin, F. Poggi, C. Dionisi Vicci, M. Spada, G. Touati, J. Rahier, F. Brunelle, C. Junien, J. J. Robert, C. Nihoul-Fékété, J. M. Saudubray

Research output: Contribution to journalArticle

Abstract

Persistent hyperinsulinemic hypoglycaemia of infancy (PHHI) is the most frequent cause of hypoglycaemia in infancy. Clinical presentation is heterogeneous, with variable onset of hypoglycaemia and response to diazoxide, and presence of sporadic or familial forms. Underlying histopathological lesions can be focal or diffuse. Focal lesions are characterised by focal hyperplasia of pancreatic islet-like cells, whereas diffuse lesions implicate the whole pancreas. The distinction between the two forms is important because surgical treatment and genetic counselling are radically different. Focal lesions correspond to somatic defects which are totally cured by limited pancreatic resection, whereas diffuse lesions require a subtotal pancreatectomy exposing to high risk of diabetes mellitus. Diffuse lesions are due to functional abnormalities involving several genes and different transmission forms. Recessively inherited PHHI have been attributed to homozygote mutations for the beta-cell sulfonylurea receptor (SURI) or the inward-rectifying potassium-channel (Kir6.2) genes. Dominantly inherited PHHI can implicate the glucokinase gene, particularly when PHHI is associated with diabetes, the glutamate dehydrogenase gene when hyperammonaemia is associated, or another locus.

Translated title of the contributionPersistent hypoglycaemia due to hyperinsulinism in newborns and infants
Original languageFrench
Pages (from-to)1347-1352
Number of pages6
JournalArchives de Pediatrie
Volume5
Issue number12
DOIs
Publication statusPublished - Dec 1998

Keywords

  • Adenoma, islet cell
  • Hyperinsulinism
  • Hypoglycemia
  • Infant
  • Islet of Langherans
  • Pancreas
  • Pancreatic diseases

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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  • Cite this

    De Lonlay-Debeney, P., Fournet, J. C., Martin, D., Poggi, F., Dionisi Vicci, C., Spada, M., Touati, G., Rahier, J., Brunelle, F., Junien, C., Robert, J. J., Nihoul-Fékété, C., & Saudubray, J. M. (1998). Hypoglycemie hyperinsulinemique persistante du nouveau-ne et du nourrisson. Archives de Pediatrie, 5(12), 1347-1352. https://doi.org/10.1016/S0929-693X(99)80055-4