SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(Storgaard Anette)
 

Sökning: WFRF:(Storgaard Anette) > Identification of p...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004858naa a2200493 4500
001oai:lup.lub.lu.se:a8a92834-9632-4a08-856c-2857c6d07c2e
003SwePub
008230515s2023 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/a8a92834-9632-4a08-856c-2857c6d07c2e2 URI
0247 a https://doi.org/10.1016/j.ymgmr.2023.1009722 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Thuesen, Anne Cathrine Baunu Steno Diabetes Center Copenhagen4 aut
2451 0a Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment
264 1b Elsevier BV,c 2023
520 a Background: Functionally disruptive variants in the glucokinase gene (GCK) cause a form of mild non-progressive hyperglycemia, which does not require pharmacological treatment. A substantial proportion of patients with type 2 diabetes (T2D) carry GCK variants. We aimed to investigate whether carriers of rare GCK variants diagnosed with T2D have a glycemic phenotype and treatment response consistent with GCK-diabetes. Methods: Eight patients diagnosed with T2D from the Danish DD2 cohort who had previously undergone sequencing of GCK participated. Clinical examinations at baseline included an oral glucose tolerance test and continuous glucose monitoring. Carriers with a glycemic phenotype consistent with GCK-diabetes took part in a three-month treatment withdrawal. Results: Carriers of pathogenic and likely pathogenic variants had lower median fasting glucose and C-peptide levels compared to carriers of variants of uncertain significance and benign variants (median fasting glucose: 7.3 (interquartile range: 0.4) mmol/l vs. 9.5 (1.6) mmol/l, p = 0.04; median fasting C-peptide 902 (85) pmol/l vs. 1535 (295) pmol/l, p = 0.03). Four participants who discontinued metformin treatment and one diet-treated participant were reevaluated after three months. There was no deterioration of HbA1c or fasting glucose (median baseline HbA1c: 49 (3) vs. 51 (6) mmol/mol after three months, p = 0.4; median baseline fasting glucose: 7.3 (0.4) mmol/l vs. 7.0 (0.6) mmol/l after three months, p = 0.5). Participants did not consistently fulfill best practice guidelines for GCK screening nor clinical criteria for monogenic diabetes. Discussion: Carriers of pathogenic or likely pathogenic GCK variants identified by unselected screening in T2D should be reported, as they have a glycemic phenotype and treatment response consistent with GCK-diabetes. Variants of uncertain significance should be interpreted with care. Systematic genetic screening of patients with common T2D receiving routine care can lead to the identification and precise care of patients with misclassified GCK-diabetes who are not identifiable through common genetic screening criteria.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
653 a Diagnosis
653 a MODY (maturity-onset diabetes of the young)
653 a T2D (type 2 diabetes)
653 a Treatment
7001 a Jensen, Rasmus Tanderupu University of Copenhagen4 aut
7001 a Maagensen, Henriku Steno Diabetes Center Copenhagen4 aut
7001 a Kristiansen, Maja Refshaugeu Odense University Hospital4 aut
7001 a Sørensen, Henrik Toftu Aarhus University Hospital4 aut
7001 a Vaag, Allanu Lund University,Lunds universitet,Translationell diabetesforskning,Forskargrupper vid Lunds universitet,Translational Diabetes Research,Lund University Research Groups,Steno Diabetes Center Copenhagen4 aut0 (Swepub:lu)med-ava
7001 a Beck-Nielsen, Henningu Odense University Hospital4 aut
7001 a Pedersen, Oluf B.4 aut
7001 a Grarup, Niels4 aut
7001 a Nielsen, Jens Steenu Odense University Hospital,University of Southern Denmark4 aut
7001 a Rungby, Jørgenu Steno Diabetes Center Copenhagen,University of Copenhagen4 aut
7001 a Gjesing, Anette Prior4 aut
7001 a Storgaard, Heidiu Steno Diabetes Center Copenhagen4 aut
7001 a Vilsbøll, Tinau Steno Diabetes Center Copenhagen,University of Copenhagen4 aut
7001 a Hansen, Torbenu University of Copenhagen4 aut
7102 a Steno Diabetes Center Copenhagenb University of Copenhagen4 org
7730 t Molecular Genetics and Metabolism Reportsd : Elsevier BVg 35q 35x 2214-4269
8564 u http://dx.doi.org/10.1016/j.ymgmr.2023.100972x freey FULLTEXT
8564 8u https://lup.lub.lu.se/record/a8a92834-9632-4a08-856c-2857c6d07c2e
8564 8u https://doi.org/10.1016/j.ymgmr.2023.100972

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy