The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10295234" target="_blank" >RIV/00216208:11130/15:10295234 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00064203:_____/15:10295234

Výsledek na webu

<a href="http://dx.doi.org/10.4274/jcrpe.1891" target="_blank" >http://dx.doi.org/10.4274/jcrpe.1891</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.4274/jcrpe.1891" target="_blank" >10.4274/jcrpe.1891</a>

Jazyk výsledku

angličtina

Název v původním jazyce

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

Popis výsledku v původním jazyce

Insulin secretion from pancreatic beta-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). Recentadvances 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

Název v anglickém jazyce

The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia

Popis výsledku anglicky

Insulin secretion from pancreatic beta-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). Recentadvances 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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FB - Endokrinologie, diabetologie, metabolismus, výživa

OECD FORD obor

—

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2015

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

JCRPE Journal of Clinical Research in Pediatric Endocrinology

ISSN

1308-5727

e-ISSN

—

Svazek periodika

7

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

TR - Turecká republika

Počet stran výsledku

12

Strana od-do

86-97

Kód UT WoS článku

000355936400001

EID výsledku v databázi Scopus

2-s2.0-84930439901