Use this url to cite publication: https://hdl.handle.net/20.500.12512/112050
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Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project / Lukas Plachy, Jillian Bryce, Klaus Mohnike, Hoong-Wei Gan, Guftar Shaikh, Klara Rozenkova, Enza Mozzillo, Giulio Maltoni, Ruta Navardauskaite, Kristina Casteels, Annemarie Verrijn Stuart, Antonia Dastamani, Susann Empting, Rasa Verkauskiene, S. Faisal Ahmed, Zdenek Sumnik
Type of publication
Tezės Web of Science duomenų bazėje / Theses in Web of Science database (T1a1)
Author(s)
Plachy, Lukas | Charles University in Prague and Motol University Hospital, Prague, Czech Republic |
Bryce, Jillian | University of Glasgow, Glasgow, United Kingdom |
Mohnike, Klaus | Ottovon-Guericke University, Magdeburg, Germany |
Gan, Hoong-Wei | Great Ormond Street Hospital for Children, London, United Kingdom |
Shaikh, Guftar | University of Glasgow, Glasgow, United Kingdom |
Rozenkova, Klara | Charles University in Prague and Motol University Hospital, Prague, Czech Republic |
Mozzillo, Enza | Pediatric Diabetes Unit, Frederico II University Hospital of Naples, Naples, Italy |
Maltoni, Giulio | Pediatric Unit - IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy |
Casteels, Kristina | University Hospitals Leuven, Leuven, Belgium |
Verrijn Stuart, Annemarie A. | Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, Netherlands |
Dastamani, Antonia | Great Ormond Street Hospital for Children, London, United Kingdom |
Empting, Susann | Ottovon-Guericke University, Magdeburg, Germany |
Ahmed, Syed Faisal | Office for Rare Conditions, University of Glasgow, Glasgow, United Kingdom |
Sumnik, Zdenek | Charles University in Prague and Motol University Hospital, Prague, Czech Republic |
Title
Clinical characteristics of children with Congenital Hyperinsulinism: Results from the European Registries for Rare Endocrine Conditions (EuRRECa) Project / Lukas Plachy, Jillian Bryce, Klaus Mohnike, Hoong-Wei Gan, Guftar Shaikh, Klara Rozenkova, Enza Mozzillo, Giulio Maltoni, Ruta Navardauskaite, Kristina Casteels, Annemarie Verrijn Stuart, Antonia Dastamani, Susann Empting, Rasa Verkauskiene, S. Faisal Ahmed, Zdenek Sumnik
Publisher (trusted)
Date Issued
2021-09-22
Extent
p. 104-104.
Is part of
Hormone Research in Paediatrics : 59th Annual (ESPE) Meeting, Online : 22-26 September 2021: abstracts / European Society for Paediatric Endocrinology (ESPE) ; Editor(s): Dattani Mehul. Basel : Karger, 2021, vol. 94, suppl. 1.
Version
Originalus / Original
Description
no. P1-72
Fetal Endocrinology and Multisystem Disorders A
ESPE Abstracts, eISBN 978-3-318-07016-3.
Field of Science
Abstract
Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described. Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa network. Materials and Methods: From July 2018 to March 2020, a total of 17 investigators from 14 European reference centers embedded in EuRRECa programme (https://eurreca.net/) reported 77 cases of CHI using a simple e-Reporting (e-REC) tool. These investigators were subsequently asked to complete a web-based questionnaire that obtained information on the phenotype, diagnostic procedures, genotype, treatment, and long-term sequelae of reported cases. Cases with confirmed CHI genetic etiology and those with no genetic findings were compared. Results: The questionnaire was completed in 55/77 (71%) of reported cases from 9/14 (64%) centers. Out of 55 cases, 44 (80%) had a clinical diagnosis of CHI. Of these, all presented with clinical symptoms of CHI, in 41/44 (93%) laboratory results confirmed the diagnosis. Twenty out of 44 (45%) cases had proven genetic CHI etiology – variants in genes ABCC8 in 13, GLUD1 in 3, GCK in 2, and single cases of KCNJ11 and genetically confirmed Beckwith- Wiedemann syndrome. Thirty-two patients (73%) presented first symptoms within the first 7 days of life. In 41/55 cases, treatment modalities were reported. CHI cases were most frequently treated with intravenous glucose (28 cases), dietary recommendations (35 cases), diazoxide (33 cases), octreotide (4 cases), long-acting octreotide (1 case), and glucagon (1 case) application. Six children underwent surgery, 5 partial and 1 total pancreatectomy. Currently, 28/44 (64%) children have age-appropriate [...].
Is Referenced by
Type of document
type::text::conference output::conference proceedings::conference paper
ISSN (of the container)
1663-2818
1663-2826
WOS
000696302600186
Other Identifier(s)
(LSMU ALMA)990001046270107106
Coverage Spatial
Jungtinė Karalystė / United Kingdom of Great Britain and Northern Ireland (GB)
Language
Anglų / English (en)
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
Hormone Research in Paediatrics | 4.275 | 4.609 | 3.427 | 5.79 | 2 | 0.976 | 2021 | Q1 |
Journal | IF | AIF | AIF (min) | AIF (max) | Cat | AV | Year | Quartile |
---|---|---|---|---|---|---|---|---|
Hormone Research in Paediatrics | 4.275 | 4.609 | 3.427 | 5.79 | 2 | 0.976 | 2021 | Q1 |
Journal | Cite Score | SNIP | SJR | Year | Quartile |
---|---|---|---|---|---|
Hormone Research in Paediatrics | 5 | 1.648 | 0.814 | 2021 | Q1 |