KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia

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KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. / Torekov, Signe S; Iepsen, Eva; Christiansen, Michael; Linneberg, Allan; Pedersen, Oluf; Holst, Jens J; Kanters, Jørgen K.; Hansen, Torben.

I: Diabetes, Bind 63, Nr. 4, 04.2014, s. 1315-1325.

Publikation: Bidrag til tidsskriftTidsskriftartikelfagfællebedømt

Harvard

Torekov, SS, Iepsen, E, Christiansen, M, Linneberg, A, Pedersen, O, Holst, JJ, Kanters, JK & Hansen, T 2014, 'KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia', Diabetes, bind 63, nr. 4, s. 1315-1325. https://doi.org/10.2337/db13-1454

APA

Torekov, S. S., Iepsen, E., Christiansen, M., Linneberg, A., Pedersen, O., Holst, J. J., Kanters, J. K., & Hansen, T. (2014). KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. Diabetes, 63(4), 1315-1325. https://doi.org/10.2337/db13-1454

Vancouver

Torekov SS, Iepsen E, Christiansen M, Linneberg A, Pedersen O, Holst JJ o.a. KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. Diabetes. 2014 apr.;63(4):1315-1325. https://doi.org/10.2337/db13-1454

Author

Torekov, Signe S ; Iepsen, Eva ; Christiansen, Michael ; Linneberg, Allan ; Pedersen, Oluf ; Holst, Jens J ; Kanters, Jørgen K. ; Hansen, Torben. / KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia. I: Diabetes. 2014 ; Bind 63, Nr. 4. s. 1315-1325.

Bibtex

@article{d084cd2ab8964690ac8206ec39c62d0b,
title = "KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia",
abstract = "Patients with loss-of-function mutations in KCNQ1have KCNQ1 long QT syndrome (LQTS). KCNQ1encodes a voltage-gated K+ channel located in bothcardiomyocytes and pancreatic b-cells. Inhibition ofKCNQ1 in b-cells increases insulin secretion.Therefore KCNQ1 LQTS patients may exhibitincreased insulin secretion. Fourteen patients, fromsix families, diagnosed with KCNQ1 LQTS wereindividually matched to two randomly chosen BMI-,age-, and sex-matched control participants andunderwent an oral glucose tolerance test (OGTT),a hypoglycemia questionnaire, and continuousglucose monitoring. KCNQ1 mutation carriersshowed increased insulin release (area under thecurve 45.6 6 6.3 vs. 26.0 6 2.8 min $ nmol/L insulin)and b-cell glucose sensitivity and had lower levels ofplasma glucose and serum potassium upon oralglucose stimulation and increased hypoglycemicsymptoms. Prolonged OGTT in four availablepatients and matched control subjects revealedhypoglycemia in carriers after 210 min (range 1.4–3.6vs. 4.1–5.3 mmol/L glucose), and 24-h glucoseprofiles showed that the patients spent 77 6 18 minper 24 h in hypoglycemic states (<3.9 mmol/Lglucose) with 36 6 10 min (<2.8 mmol/L glucose) vs.0 min (<3.9 mmol/L glucose) for the controlparticipants. The phenotype of patients with KCNQ1LQTS, caused by mutations in KCNQ1, includes,besides long QT, hyperinsulinemia, clinically relevantsymptomatic reactive hypoglycemia, and lowpotassium after an oral glucose challenge,suggesting that KCNQ1 mutations may explain somecases of “essential” reactive hypoglycemia.",
author = "Torekov, {Signe S} and Eva Iepsen and Michael Christiansen and Allan Linneberg and Oluf Pedersen and Holst, {Jens J} and Kanters, {J{\o}rgen K.} and Torben Hansen",
year = "2014",
month = apr,
doi = "10.2337/db13-1454",
language = "English",
volume = "63",
pages = "1315--1325",
journal = "Diabetes",
issn = "0012-1797",
publisher = "American Diabetes Association",
number = "4",

}

RIS

TY - JOUR

T1 - KCNQ1 Long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia

AU - Torekov, Signe S

AU - Iepsen, Eva

AU - Christiansen, Michael

AU - Linneberg, Allan

AU - Pedersen, Oluf

AU - Holst, Jens J

AU - Kanters, Jørgen K.

AU - Hansen, Torben

PY - 2014/4

Y1 - 2014/4

N2 - Patients with loss-of-function mutations in KCNQ1have KCNQ1 long QT syndrome (LQTS). KCNQ1encodes a voltage-gated K+ channel located in bothcardiomyocytes and pancreatic b-cells. Inhibition ofKCNQ1 in b-cells increases insulin secretion.Therefore KCNQ1 LQTS patients may exhibitincreased insulin secretion. Fourteen patients, fromsix families, diagnosed with KCNQ1 LQTS wereindividually matched to two randomly chosen BMI-,age-, and sex-matched control participants andunderwent an oral glucose tolerance test (OGTT),a hypoglycemia questionnaire, and continuousglucose monitoring. KCNQ1 mutation carriersshowed increased insulin release (area under thecurve 45.6 6 6.3 vs. 26.0 6 2.8 min $ nmol/L insulin)and b-cell glucose sensitivity and had lower levels ofplasma glucose and serum potassium upon oralglucose stimulation and increased hypoglycemicsymptoms. Prolonged OGTT in four availablepatients and matched control subjects revealedhypoglycemia in carriers after 210 min (range 1.4–3.6vs. 4.1–5.3 mmol/L glucose), and 24-h glucoseprofiles showed that the patients spent 77 6 18 minper 24 h in hypoglycemic states (<3.9 mmol/Lglucose) with 36 6 10 min (<2.8 mmol/L glucose) vs.0 min (<3.9 mmol/L glucose) for the controlparticipants. The phenotype of patients with KCNQ1LQTS, caused by mutations in KCNQ1, includes,besides long QT, hyperinsulinemia, clinically relevantsymptomatic reactive hypoglycemia, and lowpotassium after an oral glucose challenge,suggesting that KCNQ1 mutations may explain somecases of “essential” reactive hypoglycemia.

AB - Patients with loss-of-function mutations in KCNQ1have KCNQ1 long QT syndrome (LQTS). KCNQ1encodes a voltage-gated K+ channel located in bothcardiomyocytes and pancreatic b-cells. Inhibition ofKCNQ1 in b-cells increases insulin secretion.Therefore KCNQ1 LQTS patients may exhibitincreased insulin secretion. Fourteen patients, fromsix families, diagnosed with KCNQ1 LQTS wereindividually matched to two randomly chosen BMI-,age-, and sex-matched control participants andunderwent an oral glucose tolerance test (OGTT),a hypoglycemia questionnaire, and continuousglucose monitoring. KCNQ1 mutation carriersshowed increased insulin release (area under thecurve 45.6 6 6.3 vs. 26.0 6 2.8 min $ nmol/L insulin)and b-cell glucose sensitivity and had lower levels ofplasma glucose and serum potassium upon oralglucose stimulation and increased hypoglycemicsymptoms. Prolonged OGTT in four availablepatients and matched control subjects revealedhypoglycemia in carriers after 210 min (range 1.4–3.6vs. 4.1–5.3 mmol/L glucose), and 24-h glucoseprofiles showed that the patients spent 77 6 18 minper 24 h in hypoglycemic states (<3.9 mmol/Lglucose) with 36 6 10 min (<2.8 mmol/L glucose) vs.0 min (<3.9 mmol/L glucose) for the controlparticipants. The phenotype of patients with KCNQ1LQTS, caused by mutations in KCNQ1, includes,besides long QT, hyperinsulinemia, clinically relevantsymptomatic reactive hypoglycemia, and lowpotassium after an oral glucose challenge,suggesting that KCNQ1 mutations may explain somecases of “essential” reactive hypoglycemia.

U2 - 10.2337/db13-1454

DO - 10.2337/db13-1454

M3 - Journal article

C2 - 24357532

VL - 63

SP - 1315

EP - 1325

JO - Diabetes

JF - Diabetes

SN - 0012-1797

IS - 4

ER -

ID: 101010395