Focal congenital hyperinsulinism resulting from biallelic loss of function of
diabetes
endocrinology
genetics
neonatal health
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
24 Mar 2021
24 Mar 2021
Historique:
entrez:
25
3
2021
pubmed:
26
3
2021
medline:
15
5
2021
Statut:
epublish
Résumé
Congenital hyperinsulinism (CHI) characterised by inappropriate secretion of insulin despite low blood glucose can result in irreversible brain damage if not promptly treated. The most common genetic cause of hyperinsulinism is the pathogenic variants in
Identifiants
pubmed: 33762279
pii: 14/3/e240218
doi: 10.1136/bcr-2020-240218
pmc: PMC7993335
pii:
doi:
Substances chimiques
Potassium Channels, Inwardly Rectifying
0
Sulfonylurea Receptors
0
Octreotide
RWM8CCW8GP
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Horm Res Paediatr. 2018;89(1):1-6
pubmed: 29151084
Hum Mutat. 2020 May;41(5):884-905
pubmed: 32027066
J Clin Endocrinol Metab. 2011 Jan;96(1):24-8
pubmed: 20943779
N Engl J Med. 1995 Nov 23;333(21):1386-90
pubmed: 7477119
J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63
pubmed: 23275527
J Pediatr. 2015 Aug;167(2):238-45
pubmed: 25957977
Diabetes. 1999 Feb;48(2):408-15
pubmed: 10334322
J Inherit Metab Dis. 2013 Jul;36(4):621-34
pubmed: 23109064
Eur J Pediatr. 2008 Mar;167(3):257-65
pubmed: 17912550
Eur J Endocrinol. 2013 Mar 15;168(4):557-64
pubmed: 23345197
Eur J Nucl Med Mol Imaging. 2018 Feb;45(2):250-261
pubmed: 29116340
Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F79-86
pubmed: 10685979