Congenital hyperinsulinism, nesidioblastosis is the most common cause of persistent hypoglycemia in infancy which is caused by increased insulin secretion despite of low blood glycose levels. The most important complication is cerebral damage as a result of prolonged hypoglycemia. Type 1 of the disease is caused by ABCC8 mutations.
1. |
Yakovac WC et al. (1971) Beta cell nesidioblastosis in idiopathic hypoglycemia of infancy. |
2. |
Giurgea I et al. (2006) The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism. |
3. |
Woo D et al. (1976) Idiopathic hypoglycaemia in sibs with morphological evidence of nesidioblastosis of the pancreas. |
4. |
James C et al. (2009) The genetic basis of congenital hyperinsulinism. |
5. |
Horev Z et al. (1991) Familial hyperinsulinism: successful conservative management. |
6. |
Thornton PS et al. (1991) Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder. |
7. |
None (1938) Nesidioblastoma, the islet tumor of the pancreas. |
8. |
Woolf DA et al. (1991) Nesidioblastosis: evidence for autosomal recessive inheritance. |
9. |
Glaser B et al. (1990) Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees. |
10. |
Moreno LA et al. (1989) Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance. |
11. |
None (1989) Relevance of endocrine pancreas nesidioblastosis to hyperinsulinemic hypoglycemia. |
12. |
Mathew PM et al. (1988) Persistent neonatal hyperinsulinism. |
13. |
Wüthrich C et al. (1986) Persistent neonatal hyperinsulinemic hypoglycemia in two siblings successfully treated with diazoxide. |
14. |
Schwartz SS et al. (1979) Familial nesidioblastosis: severe neonatal hypoglycemia in two families. |
15. |
Cuesta-Muñoz AL et al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. |
16. |
Rahier J et al. (1984) The basic structural lesion of persistent neonatal hypoglycaemia with hyperinsulinism: deficiency of pancreatic D cells or hyperactivity of B cells? |
17. |
Dahms BB et al. (1980) Nesidioblastosis and other islet cell abnormalities in hyperinsulinemic hypoglycemia of childhood. |
18. |
Aynsley-Green A et al. (1981) Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia. |
19. |
Glaser B et al. (1995) Recombinant mapping of the familial hyperinsulinism gene to an 0.8 cM region on chromosome 11p15.1 and demonstration of a founder effect in Ashkenazi Jews. |
20. |
Thomas PM et al. (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. |
21. |
Fantes JA et al. (1995) A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. |
22. |
Glaser B et al. (1994) Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. |
23. |
Stanley CA et al. (1976) Hyperinsulinism in infants and children: diagnosis and therapy. |
24. |
Aparicio L et al. (1993) Prenatal diagnosis of familial neonatal hyperinsulinemia. |
25. |
Dubois J et al. (1995) Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases. |
26. |
Kukuvitis A et al. (1997) An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus. |
28. |
Burman WJ et al. (1992) Familial hyperinsulinism presenting in adults. |
29. |
Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. |
30. |
Kassem S et al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation. |
31. |
Otonkoski T et al. (1999) A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland. |
32. |
Huopio H et al. (2000) Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1. |
33. |
Huopio H et al. (2003) A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1. |
34. |
Thornton PS et al. (2003) Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor. |
35. |
Tornovsky S et al. (2004) Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. |
36. |
Thomas PM et al. (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy. |
37. |
Thomas PM et al. (1996) Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. |
38. |
Nestorowicz A et al. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. |
39. |
Verkarre V et al. (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. |
40. |
Henwood MJ et al. (2005) Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes. |
41. |
Pinney SE et al. (2008) Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. |
43. |
de Lonlay-Debeney P et al. (1999) Clinical features of 52 neonates with hyperinsulinism. |
44. |
Glaser B et al. (1999) Neonatal Hyperinsulinism. |
45. |
Service FJ et al. (1999) Noninsulinoma pancreatogenous hypoglycemia: a novel syndrome of hyperinsulinemic hypoglycemia in adults independent of mutations in Kir6.2 and SUR1 genes. |
46. |
Meissner T et al. (1999) Congenital hyperinsulinism: molecular basis of a heterogeneous disease. |
47. |
Glaser B et al. (1999) Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene. |
50. |
Sund NJ et al. (2001) Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia. |
51. |
de Lonlay P et al. (2002) Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases. |
52. |
Meissner T et al. (2002) Clinical and genetic heterogeneity in congenital hyperinsulinism. |
53. |
de Lonlay P et al. (2002) Facial appearance in persistent hyperinsulinemic hypoglycemia. |
54. |
Bianchi C et al. (1992) A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism. |
55. |
OMIM.ORG article Omim 601820 |