PMID- 36068963
OWN - NLM
STAT- MEDLINE
DCOM- 20221018
LR  - 20230110
IS  - 1399-5448 (Electronic)
IS  - 1399-543X (Print)
IS  - 1399-543X (Linking)
VI  - 23
IP  - 7
DP  - 2022 Nov
TI  - Pancreatic beta-cell function dynamics in youth with GCK, HNF1A, and KCNJ11 genes 
      mutations during mixed meal tolerance test.
PG  - 1009-1016
LID - 10.1111/pedi.13404 [doi]
AB  - OBJECTIVE: The aims were (1) to assess beta-cell function in GCK diabetes 
      patients over 2-year period; (2) to evaluate the dynamics of beta-cell function 
      in HNF1A and KCNJ11 patients after treatment optimization; using mixed meal 
      tolerance test (MMTT) as a gold standard for non-invasive beta-cell function 
      assessment. RESEARCH DESIGN AND METHODS: Twenty-two GCK diabetes patients, 22 
      healthy subjects, 4 patients with HNF1A and 2 with KCNJ11 were recruited. 
      Firstly, beta-cell function was compared between GCK patients versus controls; 
      the dynamics of beta-cell function were assessed in GCK patients with two MMTTs 
      in 2-year period. Secondly, the change of beta-cell function was evaluated in 
      HNF1A and KCNJ11 patients after successful treatment optimization in 2-year 
      period. RESULTS: GCK diabetes patients had lower area under the curve (AUC) of 
      C-peptide (CP), average CP and peak CP compared to controls. Also, higher levels 
      of fasting, average, peak and AUC of glycemia during MMTT were found in GCK 
      patients compared to healthy controls. No significant changes in either CP or 
      glycemia dynamics were observed in GCK diabetes group comparing 1st and 2nd 
      MMTTs. Patients with HNF1A and KCNJ11 diabetes had significantly improved 
      diabetes control 2 years after the treatment was optimized (HbA1c 7.1% vs. 5.9% 
      [54 mmol/mol vs. 41 mmol/mol], respectively, p = 0.028). Higher peak CP and lower 
      HbA1c were found during 2nd MMTT in patients with targeted treatment compared to 
      the 1st MMTT before the treatment change. CONCLUSION: In short-term perspective, 
      GCK diabetes group revealed no deterioration of beta-cell function. 
      Individualized treatment in monogenic diabetes showed improved beta-cell 
      function.
CI  - (c) 2022 The Authors. Pediatric Diabetes published by John Wiley & Sons Ltd.
FAU - Stankute, Ingrida
AU  - Stankute I
AD  - Institute of Endocrinology, Lithuanian University of Health Sciences, Kaunas, 
      Lithuania.
AD  - Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
FAU - Dobrovolskiene, Rimante
AU  - Dobrovolskiene R
AD  - Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
FAU - Danyte, Evalda
AU  - Danyte E
AD  - Institute of Endocrinology, Lithuanian University of Health Sciences, Kaunas, 
      Lithuania.
FAU - Steponaviciute, Rasa
AU  - Steponaviciute R
AD  - Department of Laboratory Medicine, Lithuanian University of Health Sciences, 
      Kaunas, Lithuania.
FAU - Schwitzgebel, Valerie M
AU  - Schwitzgebel VM
AUID- ORCID: 0000-0002-8015-950X
AD  - Pediatric Endocrine and Diabetes Unit, Department of Pediatrics, Gynecology and 
      Obstetrics, University Hospitals of Geneva, Geneva, Switzerland.
AD  - Diabetes Center of the Faculty of Medicine, University of Geneva, Geneva, 
      Switzerland.
FAU - Verkauskiene, Rasa
AU  - Verkauskiene R
AD  - Institute of Endocrinology, Lithuanian University of Health Sciences, Kaunas, 
      Lithuania.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20220906
PL  - Denmark
TA  - Pediatr Diabetes
JT  - Pediatric diabetes
JID - 100939345
RN  - 0 (Blood Glucose)
RN  - 0 (C-Peptide)
RN  - 0 (Glycated Hemoglobin A)
RN  - 0 (HNF1A protein, human)
RN  - 0 (Hepatocyte Nuclear Factor 1-alpha)
SB  - IM
MH  - Adolescent
MH  - Blood Glucose
MH  - C-Peptide
MH  - *Diabetes Mellitus, Type 2/genetics
MH  - Glycated Hemoglobin
MH  - Hepatocyte Nuclear Factor 1-alpha/genetics
MH  - Humans
MH  - Mutation
PMC - PMC9826376
OTO - NOTNLM
OT  - C-peptide
OT  - beta-cell function
OT  - mixed meal tolerance test
OT  - monogenic diabetes
OT  - targeted treatment
COIS- The authors declare that they have no conflict of interest.
EDAT- 2022/09/08 06:00
MHDA- 2022/10/19 06:00
PMCR- 2023/01/08
CRDT- 2022/09/07 02:51
PHST- 2022/06/21 00:00 [revised]
PHST- 2022/03/01 00:00 [received]
PHST- 2022/08/14 00:00 [accepted]
PHST- 2022/09/08 06:00 [pubmed]
PHST- 2022/10/19 06:00 [medline]
PHST- 2022/09/07 02:51 [entrez]
PHST- 2023/01/08 00:00 [pmc-release]
AID - PEDI13404 [pii]
AID - 10.1111/pedi.13404 [doi]
PST - ppublish
SO  - Pediatr Diabetes. 2022 Nov;23(7):1009-1016. doi: 10.1111/pedi.13404. Epub 2022 
      Sep 6.