Pancreas

• acute biliary pancreatitis
  3 September 2010

  The etiology of acute biliary pancreatitis (ABP) is multifactorial and complex.
  Passage of small gallbladder stones or biliary sludge through the ampulla of Vater seems to be important in the pathogenesis of ABP.
  Other factors, such as anatomical variations associated with an increased biliopancreatic reflux, bile and pancreatic juice exclusion from the duodenum, and genetic factors might contribute to the development of ABP.
  A diagnosis of a biliary etiology in acute pancreatitis is (...)

• SLC16A1-associated hyperinsulinism
  26 March 2010

  Etiology
  The SLC16A1 gene encodes the monocarboxylate transporter1 (MCT1) that mediates the movement of lactate and pyruvate across cell membranes Import and export of these substrates by tissues such as erythrocytes, muscle, intestine, and kidney are ascribed largely to the action of a proton-coupled MCT. SLC16A1 is not usually transcribed in beta cells.
  SLC16A1 gene, which encodes monocarboxylate transporter 1 (MCT1), and leads to hypoglycemia in case of activating mutations (...)

• diffuse form of hyperinsulinism
  26 March 2010

  Genetic forms
  ABCC8-associated hyperinsulinism
  KCNJ11-associated hyperinsulinism
  GK-associated hyperinsulinism (GCK)
  HADH-associated hyperinsulinism (SCHAD deficiency)
  HNF4A-associated hyperinsulinism
  UCP2-associated hyperinsulinism
  SLC16A1-associated hyperinsulinism
  GLUD1-associated hyperinsulinism (HI/HA syndrome)
  See also
  congenital hyperinsulinism focal form of hyperinsulinism diffuse form of (...)

• adult-type hyperinsulinism
  27 January 2010

  adult hyperinsulinaemic hypoglycaemia
  References
  Adult hyperinsulinaemic hypoglycaemia caused by coexisting nesidioblastosis and insulinoma. Dissanayake AS, Jones V, Fernando DJ. Eur J Intern Med. 2008 Jun;19(4):303. PMID: #18471686#

• K(ATP) channel-associated neonatal diabetes
  27 January 2010

  ATP-sensitive potassium (K(ATP)) channels play a key role in glucose-dependent insulin secretion in pancreatic beta-cells.
  Activating mutations in beta-cell K(ATP) channels were found to be an important cause of neonatal diabetes.
  In some patients, these mutations may also affect K(ATP) channel function in muscles, nerves and brain which can result in a severe disease termed DEND syndrome (Developmental delay, Epilepsy and Neonatal Diabetes).
  Mutations in the pore-forming K(ATP) channel (...)

• congenital hyperinsulinism with dominant KATP channel mutations
  27 January 2010

  Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K+ (KATP) channel in the pancreatic beta cell.
  Though most disease-causing mutations of the 2 genes encoding KATP subunits, ABCC8 (SUR1) and KCNJ11 (Kir6.2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been reported.
  Dominant mutations also resulted in different channel-gating defects, as dominant ABCC8 (...)

• GK-associated hyperinsulinism
  27 January 2010

  Several mutations in the human GLK gene are associated with the disease persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyprinsulinism (CHI). The stimulatory mutations represent surreptitious genetic determinants of PHHI.
  Pathology
  Rare GK activating mutations have been observedd in autosomal dominant congenital hyperinsulinism (MIM.602485) (V455M, A456V)
  Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but (...)

• 3992-ABCC8-associated hyperinsulinism
  27 January 2010

  References
  Noninsulinoma pancreatogenous hypoglycemia syndrome in a Saudi male. Karawagh AM, Abdullah LS, Gasim AM, Abdelaziz MM. Saudi Med J. 2008 Nov;29(11):1654-7. PMID: #18998019#

• UCP2-associated hyperinsulinism
  26 January 2010

  Physiopathology
  UCP2 (mitochondrial uncoupling protein 2) mutations encoding amino acid changes were reported in two unrelated children with congenital HI in whom no mutation in known HI-causing genes were identified.
  The onset was neonatal, and the hypoglycemia diazoxide-sensitive.
  UCP2 induces a regulated leak of protons across the inner mitochondrial membrane and uncouples mitochondrial oxidative metabolism from ATP synthesis.
  ATP cell content decreases and insulin secretion as well. (...)

• hyperinsulinism in developmental syndromes
  26 January 2010

  Hyperinsulinism is a cause of recurrent and severe hypoglycaemia in the newborn and infancy period. Several developmental genetic syndromes are associated with hyperinsulinism. The underlying molecular mechanisms that lead to hyperinsulinaemic hypoglycaemia in most of these syndromes are unclear.
  Hyperinsulinism may be associated with a large number of developmental syndromes however the underlying molecular mechanisms that cause hyperinsulinism in these syndromes are still unknown. (...)

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