A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Katanic, Dragan; Vorgucin, Ivana; Hattersley, Andrew T.; Ellard, Sian; Houghton, Jayne; Obreht, Dragana; Pogancev, Marija Knezevic; Vlaski, Jovan; Pavkov, D.

doi:10.1016/j.diabres.2017.04.021

Cited by 7 publications

(10 citation statements)

References 13 publications

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“…As the widely used drugs for the treatment of patients with type 2 diabetes, SUs could bind specifically to the SUR1 subunit, then closing the K ATP channel via an ATP-independent mechanism and therefore increasing the insulin secretion of β cells [ 52 ]. Several studies observed that patients with NDM were transferred to SUs successfully after molecular genetic diagnosis of ABCC8 variants [ 53 , 54 ]. Up to 90–95% of patients with NDM due to using ABCC8 and KCNJ11 variants are able to be taken off of insulin therapy after initiation of SUs therapy [ 55 , 56 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review

Xiao

2021

Journal of Diabetes Research

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Objectives. Diabetes mellitus (DM) is a major chronic metabolic disease in the world, and the prevalence has been increasing rapidly in recent years. The channel of KATP plays an important role in the regulation of insulin secretion. The variants in ABCC8 gene encoding the SUR1 subunit of KATP could cause a variety of phenotypes, including neonatal diabetes mellitus (ABCC8-NDM) and ABCC8-induced nonneonatal diabetes mellitus (ABCC8-NNDM). Since the features of ABCC8-NNDM have not been elucidated, this study is aimed at concluding the genetic features and clinical characteristics. Methods. We comprehensively reviewed the literature associated with ABCC8-NNDM in the following databases: MEDLINE, PubMed, and Web of Science to investigate the features of ABCC8-NNDM. Results. Based on a comprehensive literature search, we found that 87 probands with ABCC8-NNDM carried 71 ABCC8 genetic variant alleles, 24% of whom carried inactivating variants, 24% carried activating variants, and the remaining 52% carried activating or inactivating variants. Nine of these variants were confirmed to be activating or inactivating through functional studies, while four variants (p.R370S, p.E1506K, p.R1418H, and p.R1420H) were confirmed to be inactivating. The phenotypes of ABCC8-NNDM were variable and could also present with early hyperinsulinemia followed by reduced insulin secretion, progressing to diabetes later. They had a relatively high risk of microvascular complications and low prevalence of nervous disease, which is different from ABCC8-NDM. Conclusions. Genetic testing is essential for proper diagnosis and appropriate treatment for patients with ABCC8-NNDM. And further studies are required to determine the complex mechanism of the variants of ABCC8-NNDM.

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Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review

Xiao

2021

Journal of Diabetes Research

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“…2,61 Several approaches have been utilized for transition from insulin to SU. 2,44,50,[62][63][64] Patients can be on multiple daily insulin injections or on CSII prior to transition to SU. Point of care blood glucose should be checked before meals and at bedtime daily during the transition phase.…”

Section: Sulfonylurea Therapymentioning

confidence: 99%

<p>Recent Advances in Neonatal Diabetes</p>

Dahl

Kumar

2020

DMSO

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Neonatal diabetes mellitus (DM) is defined by the onset of persistent hyperglycemia within the first six months of life but may present up to 12 months of life. A gene mutation affecting pancreatic beta cells or synthesis/secretion of insulin is present in more than 80% of the children with neonatal diabetes. Neonatal DM can be transient, permanent, or be a component of a syndrome. Genetic testing is important as a specific genetic mutation can significantly alter the treatment and outcome. Patients with mutations of either KCNJ11 or ABCC8 that encode subunits of the K ATP channel gene mutation can be managed with sulfonylurea oral therapy while patients with other genetic mutations require insulin treatment.

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“…NDM is defined as the occurrence of severe hyperglycemia starting from the first month of life in the neonates ( Sethi et al., 2020 ). The global incidence of NDM ranges between 1:90,000–1:160,000 in live births ( Katanic et al., 2017 ; Rubio-Cabezas and Ellard, 2013 ; Dahl and Kumar, 2020 ). NDM was first noticed as the beginning of the 9 th century, but diabetes in children was not confirmed as T1DM/insulin dependent diabetes and ketotic due to the absence of clinical features ( Aguilar-Bryan and Bryan, 2008 ).…”

Section: Introductionmentioning

confidence: 99%

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Khan

2021

Heliyon

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Please cite this article as: Khan, I.A., Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?, HELIYON, https://doi.org/10.1016/ j.heliyon.2021.e07903. This is a PDF file of an article that has undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but it is not yet the definitive version of record. This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.

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A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up

Cited by 7 publications

References 13 publications

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review

<p>Recent Advances in Neonatal Diabetes</p>

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

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