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Diazoxide-sensitive diffuse hyperinsulinism

MedGen UID:
1842739
•Concept ID:
C5679570
•
Disease or Syndrome
Synonyms: diazoxide-sensitive diffuse hyperinsulinism; Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form; hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
 
Monarch Initiative: MONDO:0015624
Orphanet: ORPHA165985

Recent clinical studies

Etiology

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism.
Huang T, Kelly A, Becker SA, Cohen MS, Stanley CA
Arch Dis Child Fetal Neonatal Ed 2013 Jul;98(4):F351-4. Epub 2013 Feb 1 doi: 10.1136/archdischild-2012-302546. PMID: 23377780Free PMC Article
Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM
Semin Neonatol 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. PMID: 12069542

Diagnosis

Hypertrophic cardiomyopathy in neonates with congenital hyperinsulinism.
Huang T, Kelly A, Becker SA, Cohen MS, Stanley CA
Arch Dis Child Fetal Neonatal Ed 2013 Jul;98(4):F351-4. Epub 2013 Feb 1 doi: 10.1136/archdischild-2012-302546. PMID: 23377780Free PMC Article
Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM
Semin Neonatol 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. PMID: 12069542
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fékété C, Saudubray JM, Robert JJ
Eur J Pediatr 2002 Jan;161(1):37-48. doi: 10.1007/s004310100847. PMID: 11808879

Therapy

Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM
Semin Neonatol 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. PMID: 12069542
Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
de Lonlay P, Fournet JC, Touati G, Groos MS, Martin D, Sevin C, Delagne V, Mayaud C, Chigot V, Sempoux C, Brusset MC, Laborde K, Bellane-Chantelot C, Vassault A, Rahier J, Junien C, Brunelle F, Nihoul-Fékété C, Saudubray JM, Robert JJ
Eur J Pediatr 2002 Jan;161(1):37-48. doi: 10.1007/s004310100847. PMID: 11808879

Prognosis

Persistent hyperinsulinaemic hypoglycaemia.
de Lonlay P, Touati G, Robert JJ, Saudubray JM
Semin Neonatol 2002 Feb;7(1):95-100. doi: 10.1053/siny.2001.0090. PMID: 12069542

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