Persistent Hyperinsulinemia Hypoglycemia of Infancy (Congenital Hyperinsulinism)

A form of nontransient HYPOGLYCEMIA, unique to infancy, due to autosomal recessive mutations of the sulfonylurea receptor gene on CHROMOSOME 11. Defects in the sulfonylurea receptors (ATP-BINDING CASSETTE TRANSPORTERS) on the PANCREATIC BETA CELLS prevent negative feedback of GLUCOSE-regulated INSULIN release thus resulting in HYPERINSULINEMIA. Clinical phenotype includes SEIZURES; COMA; and often large BIRTH WEIGHT for GESTATIONAL AGE.

Also Known As:

Networked: 219 relevant articles (3 outcomes, 8 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypoglycemia (Reactive Hypoglycemia)
2.	Diabetes Mellitus
3.	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
4.	Hyperammonemia
5.	Hyperinsulinism (Hyperinsulinemia)

Experts

1.	Hussain, Khalid: 34 articles (12/2015 - 11/2004)
2.	Stanley, Charles A: 31 articles (11/2015 - 12/2002)
3.	Ellard, Sian: 15 articles (01/2015 - 07/2008)
4.	de Lonlay, Pascale: 15 articles (02/2012 - 02/2004)
5.	Rahier, Jacques: 14 articles (01/2015 - 01/2004)
6.	Flanagan, Sarah E: 13 articles (06/2015 - 01/2010)
7.	Shyng, Show-Ling: 12 articles (07/2013 - 03/2004)
8.	Bellanné-Chantelot, Christine: 11 articles (02/2012 - 02/2004)
9.	Brunelle, Francis: 11 articles (02/2012 - 02/2004)
10.	Ganguly, Arupa: 11 articles (06/2011 - 07/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Persistent Hyperinsulinemia Hypoglycemia of Infancy:

1.	Insulin (Novolin)FDA Link 09/15/2015 - "Congenital Hyperinsulinism (CHI) is a rare heterogeneous disease characterized by unregulated insulin secretion. " 01/01/2015 - "Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia due to unregulated insulin secretion from pancreatic β cells. " 01/01/2015 - "Congenital hyperinsulinism (CHI) is caused by unregulated insulin release and leads to hyperinsulinaemic-hypoglycaemia (HH). " 01/01/2015 - "The focal form of congenital hyperinsulinism (CHI) is characterized by a cluster of abnormal insulin-oversecreting β cells within a restricted area of the pancreas. " 01/01/2015 - "A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels."
2.	Octreotide (Sandostatin)FDA LinkGeneric 06/01/2013 - "To evaluate the efficacy of long-term, continuous, subcutaneous octreotide infusion for congenital hyperinsulinism caused by mutations in the KATP-channel genes, KCNJ11 and ABCC8. " 10/01/2014 - "Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy." 10/01/2013 - "An Egyptian case of congenital hyperinsulinism of infancy due to a novel mutation in KCNJ11 encoding Kir6.2 and response to octreotide." 05/01/2013 - "[Treatment of congenital hyperinsulinism with octreotide: a case report]." 02/01/2012 - "Successful treatment of congenital hyperinsulinism with long-acting release octreotide."
3.	CalciumIBA 02/01/2013 - "This systematic review and meta-analysis aimed to quantify the diagnostic performance of pancreatic venous sampling (PVS), selective pancreatic arterial calcium stimulation with hepatic venous sampling (ASVS), and (18)F-DOPA positron emission tomography (PET) in diagnosing and localizing focal congenital hyperinsulinism (CHI). " 01/01/2004 - "Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation." 08/01/2000 - "Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism." 10/01/2004 - "Surgical management of congenital hyperinsulinism is improved by accurate localization of small, focal dysregulated pancreatic lesions using the arterial stimulation and venous sampling (ASVS) test, which can demonstrate increased hepatic venous insulin concentrations after selective arterial injections of calcium. " 02/01/2004 - "Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism."
4.	Diazoxide (Hyperstat)FDA Link 01/01/2012 - "To study the treatment effect and safety of diazoxide on patients with congenital hyperinsulinism (CHI). " 05/01/2015 - "Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism." 01/01/2015 - "We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism. " 01/01/2015 - "A novel combination of mutations in the ABCC8 gene leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism was identified. " 01/01/2014 - "Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy."
5.	Dihydroxyphenylalanine (Dopa)IBA 04/01/2013 - "Studies have reported the applications of F-dihydroxyphenylalanine (F-DOPA) PET in patients with congenital hyperinsulinism (CHI). " 12/01/2014 - "Occurrence of giant focal forms of congenital hyperinsulinism with incorrect visualization by (18) F DOPA-PET/CT scanning." 11/01/2012 - "We performed a meta-analysis on published data on the diagnostic performance of fluorine-18 dihydroxyphenylalanine ((18)F-DOPA) positron emission tomography (PET) in diagnosing and localizing focal congenital hyperinsulinism (CHI). " 09/01/2011 - "In contrast to the results of previous reports, [(18)F]DOPA PET appears to be less efficient for diagnosing Japanese patients with congenital hyperinsulinism. " 09/01/2011 - "Although [(18)F]DOPA PET is reported to be useful for precisely localizing the focal form of congenital hyperinsulinism, previous reports are mostly from European and North American centres. "
6.	Adenosine Triphosphate (ATP)IBA 09/01/2015 - "Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel." 01/01/2012 - "Congenital hyperinsulinism (CHI) is most commonly caused by mutations in the β-cell ATP-sensitive K(+) (K(ATP)) channel genes. " 05/01/2011 - "In children with congenital hyperinsulinism (CHI), K(ATP) channel genes (ABCC8 and KCNJ11) can be screened rapidly for potential pathogenic mutations. " 01/01/2011 - "Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell." 02/01/2010 - "The greater effects of some inhibitors in Sur1KO than in control islets might be relevant to medical treatment of congenital hyperinsulinism caused by inactivating mutations of K(ATP) channels."
7.	Potassium Channels (Potassium Channel)IBA 05/01/2015 - "ABCC8 encodes a subunit of the β-cell potassium channel (KATP ) whose loss of function is responsible for congenital hyperinsulinism (CHI). " 02/26/2010 - "Characterization and functional restoration of a potassium channel Kir6.2 pore mutation identified in congenital hyperinsulinism." 03/01/2006 - "Two patients with severe congenital hyperinsulinism, one overlapping with Beckwith-Wiedemann syndrome, had pancreatic histology, ex vivo potassium channel electrophysiological studies, and mutation detection of the encoding genes. " 04/01/2014 - "Congenital hyperinsulinism is a genetically heterogeneous disorder, but mutations in the components of the ATP-sensitive potassium channel K(ATP) account for more than a third of all isolated congenital hyperinsulinism cases. " 10/01/2011 - "Congenital hyperinsulinism of infancy (OMIM# 256450) is a devastating disease most commonly caused by dominant or recessive mutations in either ABCC8 or KCNJ11, the genes that encode for the β-cell adenosine triphosphate-regulated potassium channel. "
8.	DNA (Deoxyribonucleic Acid)IBA 07/01/2007 - "Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies." 01/07/2014 - "Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells." 02/01/2013 - "Infants with large or multifocal forms of focal congenital hyperinsulinism may be at risk of BWS-like tumours due to mosaic UPD despite negative whole-blood and buccal DNA testing and tumour surveillance should be considered for this minority." 01/01/2011 - "They were clinically suspected of having congenital hyperinsulinism and DNA diagnostics were carried out. "
9.	Fatty Acids (Saturated Fatty Acids)IBA 03/01/2007 - "Among the genes identified was Hadhsc, which encodes short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD), an enzyme of mitochondrial beta-oxidation of fatty acids whose mutation results in congenital hyperinsulinism. " 01/01/2014 - "Reduced Glycemic Variability in Diazoxide-Responsive Children with Congenital Hyperinsulinism Using Supplemental Omega-3-Polyunsaturated Fatty Acids; A Pilot Trial with MaxEPA(R.)."
10.	Dopa DecarboxylaseIBA 03/01/2006 - "Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion."

Therapies and Procedures

1.	Pancreatectomy 01/01/2014 - "Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism." 02/01/2012 - "To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy. " 01/01/2012 - "Then the patient had near-total pancreatectomy, and pathology confirmed a diffuse form of congenital hyperinsulinism. " 01/01/2011 - "Preoperative identification of the focal form of congenital hyperinsulinism is important for avoiding unnecessary subtotal pancreatectomy. " 10/01/2007 - "Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and partial pancreatectomy for diffuse and focal disease respectively). "
2.	Injections 10/01/2004 - "Surgical management of congenital hyperinsulinism is improved by accurate localization of small, focal dysregulated pancreatic lesions using the arterial stimulation and venous sampling (ASVS) test, which can demonstrate increased hepatic venous insulin concentrations after selective arterial injections of calcium. " 08/01/2011 - "Congenital hyperinsulinism (CH) may be treated conservatively in many children with octreotide given by multiple sc injections or via an insulin pump. "
3.	Ketogenic Diet 01/01/2015 - "Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage."
4.	Pancreaticojejunostomy 01/01/2012 - "To determine the outcome of patients who underwent pancreatic head resection and Roux-en-Y pancreaticojejunostomy to the remaining normal pancreatic body and tail for the treatment of a focal lesion in the pancreatic head causing congenital hyperinsulinism (HI). " 01/01/2012 - "Pancreatic head resection and Roux-en-Y pancreaticojejunostomy for the treatment of the focal form of congenital hyperinsulinism."
5.	Lymph Node Excision (Lymph Node Dissection) 01/01/2007 - "Laparoscopic pancreatic resections have been performed in patients with a variety of diseases including chronic pancreatitis, pancreatic trauma, congenital hyperinsulinism, and neoplasms of the pancreas; e.g., insulinoma, mucinous cystic neoplasm, intraductal papillary mucinous neoplasm, etc. Laparoscopic pancreatic resections with an en bloc lymph node dissection have also been performed for invasive carcinomas. "