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Hyperinsulinemic hypoglycemia 1
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Hyperinsulinemic hypoglycemia 1

Clinical feature: 

Definition: 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.

Systematic link table: 

Hyperinsulinemic hypoglycemia 1
ABCC8

Literature: 

Aparicio L et al. (1993) Prenatal diagnosis of familial neonatal hyperinsulinemia.
Aynsley-Green A et al. (1981) Nesidioblastosis of the pancreas: definition of the syndrome and the management of the severe neonatal hyperinsulinaemic hypoglycaemia.
Bianchi C et al. (1992) A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism.
Burman WJ et al. (1992) Familial hyperinsulinism presenting in adults.
Cuesta-Muñoz AL et al. (2004) Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
Dahms BB et al. (1980) Nesidioblastosis and other islet cell abnormalities in hyperinsulinemic hypoglycemia of childhood.
de Lonlay P et al. (2002) Facial appearance in persistent hyperinsulinemic hypoglycemia.
de Lonlay P et al. (1997) Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
de Lonlay P et al. (2002) Heterogeneity of persistent hyperinsulinaemic hypoglycaemia. A series of 175 cases.
de Lonlay-Debeney P et al. (1999) Clinical features of 52 neonates with hyperinsulinism.
Dubois J et al. (1995) Hyperinsulinism in children: diagnostic value of pancreatic venous sampling correlated with clinical, pathological and surgical outcome in 25 cases.
Fantes JA et al. (1995) A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.
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.
Glaser B et al. (1994) Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.
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.
Glaser B et al. (1999) Neonatal Hyperinsulinism.
Glaser B et al. (1990) Persistent hyperinsulinemic hypoglycemia of infancy ("nesidioblastosis"): autosomal recessive inheritance in 7 pedigrees.
Glaser B et al. (1999) Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
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.
Horev Z et al. (1991) Familial hyperinsulinism: successful conservative management.
Huopio H et al. (2003) A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
Huopio H et al. (2000) Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
James C et al. (2009) The genetic basis of congenital hyperinsulinism.
Kassem S et al. (2010) Large islets, beta-cell proliferation, and a glucokinase mutation.
Katz LE et al. (1999) Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor.
Kukuvitis A et al. (1997) An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus.
Laidlaw GF et al. (1938) Nesidioblastoma, the islet tumor of the pancreas.
MacFarlane WM et al. (1999) Engineering a glucose-responsive human insulin-secreting cell line from islets of Langerhans isolated from a patient with persistent hyperinsulinemic hypoglycemia of infancy.
Mathew PM et al. (1988) Persistent neonatal hyperinsulinism.
Meissner T et al. (1999) Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
Meissner T et al. (2002) Clinical and genetic heterogeneity in congenital hyperinsulinism.
Moreno LA et al. (1989) Familial hyperinsulinism with nesidioblastosis of the pancreas: further evidence for autosomal recessive inheritance.
Nestorowicz A et al. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
Otonkoski T et al. (1999) A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
Pinney SE et al. (2008) Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
Rahier J et al. (1989) Relevance of endocrine pancreas nesidioblastosis to hyperinsulinemic hypoglycemia.
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?
Schwartz SS et al. (1979) Familial nesidioblastosis: severe neonatal hypoglycemia in two families.
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.
Stanley CA et al. (1976) Hyperinsulinism in infants and children: diagnosis and therapy.
Sund NJ et al. (2001) Tissue-specific deletion of Foxa2 in pancreatic beta cells results in hyperinsulinemic hypoglycemia.
Thomas PM et al. (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas PM et al. (1995) Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas PM et al. (1996) Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
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.
Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
Thornton PS et al. (1991) Familial and sporadic hyperinsulinism: histopathologic findings and segregation analysis support a single autosomal recessive disorder.
Tornovsky S et al. (2004) Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Touati G et al. (1998) Long-term treatment of persistent hyperinsulinaemic hypoglycaemia of infancy with diazoxide: a retrospective review of 77 cases and analysis of efficacy-predicting criteria.
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.
Woo D et al. (1976) Idiopathic hypoglycaemia in sibs with morphological evidence of nesidioblastosis of the pancreas.
Woolf DA et al. (1991) Nesidioblastosis: evidence for autosomal recessive inheritance.
Wüthrich C et al. (1986) Persistent neonatal hyperinsulinemic hypoglycemia in two siblings successfully treated with diazoxide.
Yakovac WC et al. (1971) Beta cell nesidioblastosis in idiopathic hypoglycemia of infancy.