We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulinaemic hypoglycaemia (CHI) due to a homozygous ABCC8 mutation. A term baby, with birth weight 3.8 kg, born to consanguineous parents presented on day 1 of life with hypoglycaemia. Hypoglycaemia screen confirmed CHI. Diazoxide was commenced on day 7 due to ongoing elevated glucose requirements (15 mg/kg/min), but despite escalation to a maximum dose (15 mg/kg/day), intravenous (i.v.) glucose requirement remained high (13 mg/kg/min). Genetic testing demonstrated a homozygous ABCC8 splicing mutation (c.2041-1G>C), consistent with a diffuse form of CHI. Diazoxide treatment was therefore stopped and subcutaneous (s.c.) octreotide infusion commenced....
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory de...
Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic ...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulina...
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated ...
Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diaz...
Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be d...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extende...
PublishedJournal ArticleResearch Support, Non-U.S. Gov'tOBJECTIVE: The phenotype associated with het...
PublishedJournal ArticleThis is the final version of the article. Available from Galenos Yayınevi vi...
Diazoxide is the first-line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). Approx...
PublishedResearch Support, Non-U.S. Gov'tThis is the final version of the article. Available from Ga...
ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsuli...
AbstractCongenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newb...
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory de...
Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic ...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
We report a case of partial diazoxide responsiveness in a child with severe congenital hyperinsulina...
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated ...
Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diaz...
Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be d...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extende...
PublishedJournal ArticleResearch Support, Non-U.S. Gov'tOBJECTIVE: The phenotype associated with het...
PublishedJournal ArticleThis is the final version of the article. Available from Galenos Yayınevi vi...
Diazoxide is the first-line treatment for patients with hyperinsulinaemic hypoglycaemia (HH). Approx...
PublishedResearch Support, Non-U.S. Gov'tThis is the final version of the article. Available from Ga...
ABCC8 and KCJN11 mutations cause the most severe diazoxide-resistant forms of congenital hyperinsuli...
AbstractCongenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newb...
Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory de...
Congenital hyperinsulinism (CHI) occurs due to an unregulated insulin secretion from the pancreatic ...
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and ...