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The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.

Roženková K, Güemes M, Shah P, Hussain K - J Clin Res Pediatr Endocrinol (2015)

Bottom Line: Given the biochemical nature of HH (non-ketotic), a delay in the diagnosis and management can result in irreversible brain damage.Advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy and surgical approach (laparoscopic surgery) have completely changed the management and improved the outcome of these children.The article summarizes the current diagnostic methods and management strategies for the different types of CHI.

View Article: PubMed Central - PubMed

Affiliation: Great Ormond Street Hospital for Children, UCL Institute of Child Health, Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, London, UK Phone: +44 2079052128 E-mail: khalid.hussain@ucl.ac.uk.

ABSTRACT
Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is a heterozygous condition in which insulin secretion becomes unregulated and its production persists despite low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. The most severe and permanent forms are due to congenital hyperinsulinism (CHI). Recent advances in genetics have linked CHI to mutations in 9 genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A and HNF1A). Histologically, CHI can be divided into 3 types; diffuse, focal and atypical. Given the biochemical nature of HH (non-ketotic), a delay in the diagnosis and management can result in irreversible brain damage. Therefore, it is essential to diagnose and treat HH promptly. Advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy and surgical approach (laparoscopic surgery) have completely changed the management and improved the outcome of these children. This review provides an overview of the genetic and molecular mechanisms leading to development of HH in children. The article summarizes the current diagnostic methods and management strategies for the different types of CHI.

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Related in: MedlinePlus

Proposed management algorithm for the treatment of congenital hyperinsulinism
© Copyright Policy - open-access
Related In: Results  -  Collection

License
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f2: Proposed management algorithm for the treatment of congenital hyperinsulinism

Mentions: A detailed management algorithm is summarized in Figure 2.


The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia.

Roženková K, Güemes M, Shah P, Hussain K - J Clin Res Pediatr Endocrinol (2015)

Proposed management algorithm for the treatment of congenital hyperinsulinism
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4563192&req=5

f2: Proposed management algorithm for the treatment of congenital hyperinsulinism
Mentions: A detailed management algorithm is summarized in Figure 2.

Bottom Line: Given the biochemical nature of HH (non-ketotic), a delay in the diagnosis and management can result in irreversible brain damage.Advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy and surgical approach (laparoscopic surgery) have completely changed the management and improved the outcome of these children.The article summarizes the current diagnostic methods and management strategies for the different types of CHI.

View Article: PubMed Central - PubMed

Affiliation: Great Ormond Street Hospital for Children, UCL Institute of Child Health, Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, London, UK Phone: +44 2079052128 E-mail: khalid.hussain@ucl.ac.uk.

ABSTRACT
Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is a heterozygous condition in which insulin secretion becomes unregulated and its production persists despite low blood glucose levels. It is the most common cause of severe and persistent hypoglycaemia in neonates and children. The most severe and permanent forms are due to congenital hyperinsulinism (CHI). Recent advances in genetics have linked CHI to mutations in 9 genes that play a key role in regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A and HNF1A). Histologically, CHI can be divided into 3 types; diffuse, focal and atypical. Given the biochemical nature of HH (non-ketotic), a delay in the diagnosis and management can result in irreversible brain damage. Therefore, it is essential to diagnose and treat HH promptly. Advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy and surgical approach (laparoscopic surgery) have completely changed the management and improved the outcome of these children. This review provides an overview of the genetic and molecular mechanisms leading to development of HH in children. The article summarizes the current diagnostic methods and management strategies for the different types of CHI.

Show MeSH
Related in: MedlinePlus