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Current Opinion in Pediatrics, 2013
Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
Vittoria Rufini, Milena Pizzoferro
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Congenital hyperinsulinism (CHI) is a multifaceted disease and continues to be the most common cause of persistent hypoglycemia in infants. The purpose of the review is to highlight important recent developments regarding CHI.Several recent studies have highlighted the advances in medical genetics, imaging techniques, histological variety, and surgical
Vittoria Rufini, Milena Pizzoferro
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Seminars in Fetal and Neonatal Medicine, 2005
Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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Congenital hyperinsulinism is a cause of persistent hypoglycaemia in the neonatal period. It is a heterogeneous disease with respect to clinical presentation, molecular biology, genetic aetiology and response to medical therapy. The clinical heterogeneity may range from severe life-threatening disease to very mild clinical symptoms.
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New Tools for Congenital Hyperinsulinism
Clinical Pediatrics, 2021N ...
Da Lozzo, Prisca +8 more
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Genetics of Congenital Hyperinsulinism
Endocrine Pathology, 2004Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous entity and causes severe hypoglycemia in neonates and infants. The clinical heterogeneity is manifested by severity ranging from extremely severe, life-threatening disease to very mild clinical symptoms, which may even be difficult to identify.
Jean-Christophe, Fournet +1 more
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Congenital Hyperinsulinism: An Historical Perspective
Hormone Research in Paediatrics, 2022Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in neonates, infants, and children. Since the first case descriptions in the 1950s, the field has advanced significantly. It was the development of the insulin radioimmunoassay by Yalow and Berson a decade later that made it possible to demonstrate that this form of ...
Paul S. Thornton +2 more
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Congenital Hyperinsulinism and Cardiomyopathy
Fetal and Pediatric Pathology, 2012We read with great interest the article by Bulbul et al [1] appearing in Volume 29, Issue 3, 2010.They presented a babywith hypertrophic cardiomyopathy and hyperinsulinemic hypoglycemia resistant tomedical treatment.Themutation analysis could not been performed in this case, however the disease clearly was due to an ATP-sensitivepotassium (KATP ...
Teoman, Akcay +3 more
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A Newborn with Congenital Hyperinsulinism
Fetal and Pediatric Pathology, 2019Objective: Our aim was to describe the molecular alterations in the ABCC8 gene in a child with congenital hyperinsulinism (CHI). Methods: Genetic analysis of the ABCC8 gene of a newborn infant with congenial hyperinsulinism was obtained. Results: There were two mutations in the ABCC8 gene, c.4412delT, and c.3979G > A, indicating a compound heterozygous
Yiting, Du +3 more
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[Focal congenital hyperinsulinism].
Orvosi hetilap, 2023In congenital hyperinsulinemic hypoglycemia - the most common cause of persistent hypoglycemia in infancy - a focal lesion can be identified in 50% of the cases. With appropriate medical care based upon early diagnosis, these patients can be cured by the resection of the lesion rendering unnecessary long time medical care, and avoiding serious brain ...
Zsuzsa, Tallós +8 more
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