ATP-Sensitive Potassium Channels — Neonatal Diabetes Mellitus and Beyond

Neonatal diabetes mellitus (NDM) develops within the first 6 months of life. It occurs with a frequency of 1 cases per 300,000 - 500,000 newborn infants. Pathogenesis of NDM involves over 10 different genes. Of greatest clinical significance are mutations in KCNJII and ABCC8 genes responsible for the activity of ATP-dependent potassium channels and regulating their activation. It was shown that the intake of oral sulfonylurea (SU) preparations results in the closure of these channels and thereby stimulates the release of insulin from beta-cells. For this reason, SU therapy can be applied as an alternative to insulin injections. SU preparations ensure the efficacious control of metabolic processes and substitute insulin in the majority of the cases of transient and permanent NDM associated with mutations in KCNJII and ABCC8 genes. The original observations demonstrating the relationship between the type of mutation in the KCNJII gene and the dose of SU preparations are presented.

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25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus

Diabetes ◽

10.2337/db19-25-or ◽

2019 ◽

Vol 68 (Supplement 1) ◽

pp. 25-OR

Author(s):

SHAHANA SENGUPTA ◽

LORI L. BONNYCASTLE ◽

BENOIT HASTOY ◽

ANTJE GROTZ ◽

MAHESH M. UMAPATHYSIVAM ◽

...

Keyword(s):

Diabetes Mellitus ◽

Type 2 Diabetes ◽

Susceptibility Gene ◽

Neonatal Diabetes ◽

Neonatal Diabetes Mellitus ◽

Diabetes Susceptibility ◽

Diabetes Susceptibility Gene ◽

Causal Allele

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Correction to: Neonatal Diabetes Mellitus: Novel Mutations

The Indian Journal of Pediatrics ◽

10.1007/s12098-021-03769-7 ◽

2021 ◽

Author(s):

Sapna Nayak ◽

Aditya Narayan Sarangi ◽

Saroj Kumar Sahoo ◽

Pragya Mangla ◽

Manoranjan Tripathy ◽

...

Keyword(s):

Diabetes Mellitus ◽

Neonatal Diabetes ◽

Neonatal Diabetes Mellitus ◽

Novel Mutations

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The use of glimepiride for the treatment of neonatal diabetes mellitus caused by a novel mutation of the ABCC8 gene

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0030 ◽

2020 ◽

Vol 33 (12) ◽

pp. 1605-1608

Author(s):

Xiao Qin ◽

Jingzi Zhong ◽

Dan Lan

Keyword(s):

Diabetes Mellitus ◽

Novel Mutation ◽

Male Infant ◽

Neonatal Diabetes ◽

Monogenic Diabetes ◽

Neonatal Diabetes Mellitus ◽

Rare Form ◽

Case Presentation ◽

Abcc8 Gene

AbstractObjectivesNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes that is usually diagnosed in the first six months of life.Case presentationWe report on a male infant with neonatal diabetes who presented with diabetic ketoacidosis at two months and 16 days. A novel homozygous missense mutation (c.259T>G) was identified in the ABCC8 gene. In this case, insulin was replaced with glimepiride at a dosage of 0.49 mg/kg/day at five months, and this achieved metabolic control and satisfactory growth as observed at follow-up.ConclusionsThis report improves our understanding of the mutational spectrum of ABCC8, which is normally associated with NDM, and shows that the treatment regimen for this condition can be successfully switched from insulin therapy to the use of sulfonylurea.

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