Monogenic diabetes mellitus in cystic fibrosis.

Adolescent Child Cystic Fibrosis / complications Cystic Fibrosis Transmembrane Conductance Regulator / genetics Diabetes Mellitus, Type 1 / complications Female Frameshift Mutation / genetics Gliclazide / therapeutic use Hepatocyte Nuclear Factor 1-alpha / genetics Humans Hypoglycemic Agents / therapeutic use Insulin / therapeutic use Male Siblings Treatment Outcome
cystic fibrosis diabetes endocrinology paediatric practice respiratory

Journal

Archives of disease in childhood
ISSN: 1468-2044
Titre abrégé: Arch Dis Child
Pays: England
ID NLM: 0372434

Informations de publication

Date de publication:
09 2019
Historique:
received: 30 08 2018
revised: 13 09 2018
accepted: 15 09 2018
pubmed: 1 10 2018
medline: 17 3 2020
entrez: 1 10 2018
Statut: ppublish

Résumé

We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (

Identifiants

DOI: 10.1136/archdischild-2018-316141 PMID: 30269055
pubmed: 30269055
pii: archdischild-2018-316141
doi: 10.1136/archdischild-2018-316141
doi:

Substances chimiques

CFTR protein, human 0
HNF1A protein, human 0
Hepatocyte Nuclear Factor 1-alpha 0
Hypoglycemic Agents 0
Insulin 0
Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6
Gliclazide G4PX8C4HKV

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

887-889

Informations de copyright

© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Hoong-Wei Gan (HW)

Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK.
ORCID: 0000-0001-6198-0397

Jayesh Mahendra Bhatt (JM)

Department of Paediatric Respiratory Medicine, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.
ORCID: 0000-0003-0083-7460

Louise Denvir (L)

Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.

Tabitha Randell (T)

Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.

Pooja Sachdev (P)

Department of Paediatric Endocrinology, Nottingham Children's Hospital, Nottingham University Hospitals NHS Trust, Nottingham, UK.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Mucoviscidose › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs d'anions › Transporteurs d'anions organiques › Transporteurs d'anions organiques ATP-dépendants › Protéines associées à la multirésistance aux médicaments › Protéine CFTR › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Maladies du système immunitaire › Maladies auto-immunes › Diabète de type 1 › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Composés chimiques organiques › Composés du soufre › Sulfones › Sulfonylurées › Gliclazide › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs nucléaires hépatocytaires › Facteur nucléaire hépatocytaire HNF-1 › Facteur nucléaire hépatocytaire HNF-1 alpha › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Effets physiologiques des médicaments › Hypoglycémiants › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Acides aminés, peptides et protéines › Peptides › Hormones peptidiques › Hormones pancréatiques › Insulines › Insuline › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Personnes › Fratrie › Monogenic diabetes mellitus in cystic fibrosis.
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Résultat thérapeutique › Monogenic diabetes mellitus in cystic fibrosis.