Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano

Translated title of the contribution: Hypoglycaemia due to congenital hyperinsulinism of infancy. The italian registry

C. Ingegnosi, M. Crapanzano, S. di Candia, P. Sogno-Valin, M. C. Proverbio, C. Battaglia, I. Zamproni, S. Mora, V. Guardabasso, S. Bianca, A. Salvatoni, M. Caruso-Nicoletti

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Hypoglycaemia is a frequent metabolic disorder in pediatric age particularly in the newborn period, with major consequences on central nervous system. Among the causes of hypoglycaemia are included transient conditions due to metabolic adaptation after birth, inborn errors of metabolism, hormonal disorders. Congenital hyperinsulinism of infancy (CHI), the most frequent cause of persistent hypoglycaemia in children, is due to inappropriate insulin secretion at low blood glucose levels. It is an heterogeneous entity in terms of clinical presentation, genetics and histology. Prompt diagnosis and therapy are necessary to avoid that serious and recurrent hypoglycaemia causes irreversible brain damage. Mutations in 7 different genes can be responsible of CHI; the great majority being mutations of the genes coding for the subunits of ATP sensitive K+ channels. Despite major progresses in the understanding of molecular mechanism underlying this condition and in the diagnosis of diffuse versus focal forms, thanks to 18-fluoro DOPA PET, most needs to be done to improve the prognosis of CHI patients. Recently the Italian Registry for Congenital Hyperinsulinism of Infancy has been instituted with the aim of implementing knowledge and management of this rare and complex disease.

Original languageItalian
Pages (from-to)88-96
Number of pages9
JournalGiornale Italiano di Diabetologia e Metabolismo
Volume31
Issue number2
Publication statusPublished - 2011

Fingerprint

Congenital Hyperinsulinism
Hypoglycemia
Registries
Knowledge Management
Inborn Errors Metabolism
Mutation
Rare Diseases
Genes
Blood Glucose
Histology
Central Nervous System
Adenosine Triphosphate
Parturition
Newborn Infant
Insulin
Pediatrics
Brain

ASJC Scopus subject areas

  • Endocrinology
  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism

Cite this

Ingegnosi, C., Crapanzano, M., di Candia, S., Sogno-Valin, P., Proverbio, M. C., Battaglia, C., ... Caruso-Nicoletti, M. (2011). Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano. Giornale Italiano di Diabetologia e Metabolismo, 31(2), 88-96.

Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano. / Ingegnosi, C.; Crapanzano, M.; di Candia, S.; Sogno-Valin, P.; Proverbio, M. C.; Battaglia, C.; Zamproni, I.; Mora, S.; Guardabasso, V.; Bianca, S.; Salvatoni, A.; Caruso-Nicoletti, M.

In: Giornale Italiano di Diabetologia e Metabolismo, Vol. 31, No. 2, 2011, p. 88-96.

Research output: Contribution to journalArticle

Ingegnosi, C, Crapanzano, M, di Candia, S, Sogno-Valin, P, Proverbio, MC, Battaglia, C, Zamproni, I, Mora, S, Guardabasso, V, Bianca, S, Salvatoni, A & Caruso-Nicoletti, M 2011, 'Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano', Giornale Italiano di Diabetologia e Metabolismo, vol. 31, no. 2, pp. 88-96.
Ingegnosi C, Crapanzano M, di Candia S, Sogno-Valin P, Proverbio MC, Battaglia C et al. Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano. Giornale Italiano di Diabetologia e Metabolismo. 2011;31(2):88-96.
Ingegnosi, C. ; Crapanzano, M. ; di Candia, S. ; Sogno-Valin, P. ; Proverbio, M. C. ; Battaglia, C. ; Zamproni, I. ; Mora, S. ; Guardabasso, V. ; Bianca, S. ; Salvatoni, A. ; Caruso-Nicoletti, M. / Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano. In: Giornale Italiano di Diabetologia e Metabolismo. 2011 ; Vol. 31, No. 2. pp. 88-96.
@article{315dff29b07441d48aa5ee7b791e09a9,
title = "Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano",
abstract = "Hypoglycaemia is a frequent metabolic disorder in pediatric age particularly in the newborn period, with major consequences on central nervous system. Among the causes of hypoglycaemia are included transient conditions due to metabolic adaptation after birth, inborn errors of metabolism, hormonal disorders. Congenital hyperinsulinism of infancy (CHI), the most frequent cause of persistent hypoglycaemia in children, is due to inappropriate insulin secretion at low blood glucose levels. It is an heterogeneous entity in terms of clinical presentation, genetics and histology. Prompt diagnosis and therapy are necessary to avoid that serious and recurrent hypoglycaemia causes irreversible brain damage. Mutations in 7 different genes can be responsible of CHI; the great majority being mutations of the genes coding for the subunits of ATP sensitive K+ channels. Despite major progresses in the understanding of molecular mechanism underlying this condition and in the diagnosis of diffuse versus focal forms, thanks to 18-fluoro DOPA PET, most needs to be done to improve the prognosis of CHI patients. Recently the Italian Registry for Congenital Hyperinsulinism of Infancy has been instituted with the aim of implementing knowledge and management of this rare and complex disease.",
keywords = "Genes, Hyperinsulinism, Hypoglicaemia, Mutations, Pancreatic beta-cells",
author = "C. Ingegnosi and M. Crapanzano and {di Candia}, S. and P. Sogno-Valin and Proverbio, {M. C.} and C. Battaglia and I. Zamproni and S. Mora and V. Guardabasso and S. Bianca and A. Salvatoni and M. Caruso-Nicoletti",
year = "2011",
language = "Italian",
volume = "31",
pages = "88--96",
journal = "Giornale Italiano di Diabetologia",
issn = "1593-6104",
publisher = "UTET Periodici Scientifici srl",
number = "2",

}

TY - JOUR

T1 - Ipoglicemia da iperinsulinismo congenito dell'infanzia. Il registro Italiano

AU - Ingegnosi, C.

AU - Crapanzano, M.

AU - di Candia, S.

AU - Sogno-Valin, P.

AU - Proverbio, M. C.

AU - Battaglia, C.

AU - Zamproni, I.

AU - Mora, S.

AU - Guardabasso, V.

AU - Bianca, S.

AU - Salvatoni, A.

AU - Caruso-Nicoletti, M.

PY - 2011

Y1 - 2011

N2 - Hypoglycaemia is a frequent metabolic disorder in pediatric age particularly in the newborn period, with major consequences on central nervous system. Among the causes of hypoglycaemia are included transient conditions due to metabolic adaptation after birth, inborn errors of metabolism, hormonal disorders. Congenital hyperinsulinism of infancy (CHI), the most frequent cause of persistent hypoglycaemia in children, is due to inappropriate insulin secretion at low blood glucose levels. It is an heterogeneous entity in terms of clinical presentation, genetics and histology. Prompt diagnosis and therapy are necessary to avoid that serious and recurrent hypoglycaemia causes irreversible brain damage. Mutations in 7 different genes can be responsible of CHI; the great majority being mutations of the genes coding for the subunits of ATP sensitive K+ channels. Despite major progresses in the understanding of molecular mechanism underlying this condition and in the diagnosis of diffuse versus focal forms, thanks to 18-fluoro DOPA PET, most needs to be done to improve the prognosis of CHI patients. Recently the Italian Registry for Congenital Hyperinsulinism of Infancy has been instituted with the aim of implementing knowledge and management of this rare and complex disease.

AB - Hypoglycaemia is a frequent metabolic disorder in pediatric age particularly in the newborn period, with major consequences on central nervous system. Among the causes of hypoglycaemia are included transient conditions due to metabolic adaptation after birth, inborn errors of metabolism, hormonal disorders. Congenital hyperinsulinism of infancy (CHI), the most frequent cause of persistent hypoglycaemia in children, is due to inappropriate insulin secretion at low blood glucose levels. It is an heterogeneous entity in terms of clinical presentation, genetics and histology. Prompt diagnosis and therapy are necessary to avoid that serious and recurrent hypoglycaemia causes irreversible brain damage. Mutations in 7 different genes can be responsible of CHI; the great majority being mutations of the genes coding for the subunits of ATP sensitive K+ channels. Despite major progresses in the understanding of molecular mechanism underlying this condition and in the diagnosis of diffuse versus focal forms, thanks to 18-fluoro DOPA PET, most needs to be done to improve the prognosis of CHI patients. Recently the Italian Registry for Congenital Hyperinsulinism of Infancy has been instituted with the aim of implementing knowledge and management of this rare and complex disease.

KW - Genes

KW - Hyperinsulinism

KW - Hypoglicaemia

KW - Mutations

KW - Pancreatic beta-cells

UR - http://www.scopus.com/inward/record.url?scp=82555192858&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=82555192858&partnerID=8YFLogxK

M3 - Articolo

VL - 31

SP - 88

EP - 96

JO - Giornale Italiano di Diabetologia

JF - Giornale Italiano di Diabetologia

SN - 1593-6104

IS - 2

ER -