Congenital hyperinsulinism
Congenital hyperinsulinism: current trends in diagnosis and therapy
... Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic b-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as ...
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Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
... Background: Congenital hyperinsulinism (CHI) is the most frequent cause of hypoglycemia in children. In addition to increased peripheral glucose utilization, dysregulated insulin secretion induces profound ...
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Original Article Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism
... Congenital hyperinsulinism (CHI) is the most common cause of persistent and recurrent hypoglycaemia in neonates. Hence, this disor- der has the potential to be life threatening causing neurological damage, ...
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Clinical use of long-acting somatostatin analogue (octreotide) in patients with congenital hyperinsulinism – A review
... Congenital hyperinsulinism (CHI) is the most frequent cause of profound hypoglycemia in neonates and infants. The management of this disorder has been a therapeutic challenge for clinicians because the ...
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Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations
... Congenital hyperinsulinism is a condition of dysregulated insulin secretion often caused by inactivating mutations of the ATP-sensitive K + (K ATP ) channel in the pancreatic b ...
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Hepatoblastoma and Wilms’ tumour in an infant with Beckwith–Wiedemann syndrome and diazoxide resistant congenital hyperinsulinism
... Beckwith–Wiedemann syndrome (BWS) can be associated with embryonal tumours and congenital hyperinsulinism (CHI). We present an infant with BWS who developed congenital hepatoblastoma and Wilms’ ...
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Vineland adaptive behavior scales to identify neurodevelopmental problems in children with Congenital Hyperinsulinism (CHI)
... Congenital Hyperinsulinism (CHI) is a significant dis- order of hypoglycaemia caused by excessive and un- regulated insulin secretion [1, ...with Congenital Hyperinsulinism (CHI) have adverse ...
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Continuous Flash Glucose Monitoring in children with Congenital Hyperinsulinism; first report on accuracy and patient experience
... Congenital hyperinsulinism (CHI) is the most common cause of severe persistent hypoglycaemia in children, mainly during infancy ...the hyperinsulinism in- hibits ketogenesis, the brain is deprived of ...
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A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
... Case: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A ...
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Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
... Congenital hyperinsulinism (CHI) leads to severe hyper- insulinaemic hypoglycaemia (HH) in the neonatal, infancy and childhood periods. The genetic basis of CHI is beginning to be understood. Genetic ...
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Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism
... Congenital hyperinsulinism (CHI) is a heterogeneous metabolic disorder that is characterized by the unregu- lated release of insulin from pancreatic beta cells leading to recurrent episodes of hypoglycaemia ...
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In vitro insulin secretion by pancreatic tissue from infants with diazoxide resistant congenital hyperinsulinism deviates from model predictions
... Congenital hyperinsulinism (CHI) is the major cause of persistent neonatal hypoglycemia. CHI most often occurs due to mutations in the ABCC8 (which encodes sulfonylurea receptor 1) or KCNJ11 (which encodes ...
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Central venous catheter-associated thrombosis in children with congenital hyperinsulinism
... Congenital hyperinsulinism (CHI) is an important cause of severe hypoglycaemia in infancy. To correct hypoglycaemia, high concentrations of dextrose are often required through a central venous catheter ...
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Original Article Genomic and morphoproteomic correlates implicate the IGF-1/mTOR/Akt pathway in the pathogenesis of diffuse congenital hyperinsulinism
... Abstract: Purpose: Patients with diffuse congenital hyperinsulinism (CHI), unresponsive to medical therapy require near total pancreatectomy. Morphoproteomic analysis of the pancreases in diffuse CHI has ...
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The burden of congenital hyperinsulinism in the United Kingdom: a cost of illness study
... 2170 people living with the disease in the UK [4]. Clinical experts in CHI estimate that approximately 95 infants are born with the disease in the UK each year [Expert opinion, Great Ormond Street Hospital; GOSH, 2015 ...
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Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy
... Congenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, ...
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Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers
... Calcium channel antagonists such as nifedipine or amlodipine are approved for treatment of hyperten- sion and angina pectoris. Their use in treatment of CHI is relatively new. They inhibit the transmembrane influx of ...
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Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time
... A single heterozygous mutation was identified in 14 (67%) patients; 5 pa- tients had maternally inherited ABCC8 mutations, 2 patients had de novo ABCC8 mutations (no mutations identified[r] ...
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Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants
... In these 2 cases, the diagnostic workup for CHI was complicated by their status as infants of diabetic mothers. For both, the standard treatment for neonatal hypoglycemia was provided but the specific work up for CHI was ...
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Congenital hyperinsulinism: clinical and molecular characterisation of compound heterozygous ABCC8 mutation responsive to Diazoxide therapy
... Molecular genetic analysis of the proband confirmed a biallelic ABCC8 mutation – missense R526C inherited from an unaffected mother and a frameshift c.1879delC mutation (H627Mfs*20) inhe[r] ...
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