neonatal hyperinsulinism

Genetics

 Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol. 2001 Jun;158(6):2177-84. PMID: 11395395

 Fournet JC, Mayaud C, de Lonlay P, Verkarre V, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism. Horm Res. 2000;53 Suppl 1:2-6. PMID: 10895035

 Fournet JC, Verkarre V, De Lonlay P, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia. Ann Endocrinol (Paris). 1998;59(6):485-91.PMID: 10189991

 Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest. 1998 Oct 1;102(7):1286-91. PMID: 9769320

 de Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. J Clin Invest. 1997 Aug 15;100(4):802-7.PMID: 9259578

Pathology

 Rahier J, Sempoux C, Fournet JC, Poggi F, Brunelle F, Nihoul-Fekete C, Saudubray JM, Jaubert F. Partial or near-total pancreatectomy for persistent neonatal hyperinsulinaemic hypoglycaemia: the pathologist’s role. Histopathology. 1998 Jan;32(1):15-9. PMID: 9522211

Clinics

 Giurgea I, Sanlaville D, Fournet JC, Sempoux C, Bellanné-Chantelot C, Touati G, Hubert L, Groos MS, Brunelle F, Rahier J, Henquin JC, Dunne MJ, Jaubert F, Robert JJ, Nihoul-Fékété C, Vekemans M, Junien C, de Lonlay P. Congenital hyperinsulinism and mosaic abnormalities of the ploidy. J Med Genet. 2006 Mar;43(3):248-54. PMID: 16033916

 Sempoux C, Guiot Y, Dahan K, Moulin P, Stevens M, Lambot V, de Lonlay P, Fournet JC, Junien C, Jaubert F, Nihoul-Fekete C, Saudubray JM, Rahier J. The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma. Diabetes. 2003 Mar;52(3):784-94. PMID: 12606521

 de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, Saudubray JM. Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet. 2002 Aug 1;111(2):130-3.PMID: 12210338

 Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):993-1000. PMID: 12199344

 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. Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. Eur J Pediatr. 2002 Jan;161(1):37-48. PMID: 11808879

 Chigot V, De Lonlay P, Nassogne MC, Laborde K, Delagne V, Fournet JC, Nihoul-Fékété C, Saudubray JM, Brunelle F. Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy. Pediatr Radiol. 2001 Sep;31(9):650-5. PMID: 11512008

 de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Vici CD, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert JJ, Saudubray JM. Clinical features of 52 neonates with hyperinsulinism. N Engl J Med. 1999 Apr 15;340(15):1169-75. PMID: 10202168

Reviews

 Fournet JC, Junien C. Genetics of congenital hyperinsulinism. Endocr Pathol. 2004 Fall;15(3):233-40. PMID: 15640549

 Fournet JC, Junien C. The genetics of neonatal hyperinsulinism. Horm Res. 2003;59 Suppl 1:30-4. PMID: 12566718

 de Lonlay-Debeney P, Fournet JC, Touati G, Robert JJ, Junien C, Saudubray JM. [Hyperinsulinism] Arch Pediatr. 2001 May;8 Suppl 2:298s-300s. PMID: 11394094

 de Lonlay-Debeney P, Fournet JC, Martin D, Poggi F, Dionisi Vicci C, Spada M, Touati G, Rahier J, Brunelle F, Junien C, Robert JJ, Nihoul-Fékété C, Saudubray JM. [Persistent hyperinsulinemic hypoglycemia in the newborn and infants] Arch Pediatr. 1998 Dec;5(12):1347-52. PMID: 9885743