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

2021 ◽  
Vol 2021 ◽  
pp. 1-14
Author(s):  
Meng Li ◽  
Xueyao Han ◽  
Linong Ji
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Secretion ◽  
Microvascular Complications ◽  
Neonatal Diabetes ◽  
Gene Encoding ◽  
Nervous Disease ◽  
Genetic Characteristics ◽  
Functional Studies ◽  
Abcc8 Gene ◽  
Genetic Features

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.

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

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.

Transient neonatal diabetes due to activating mutation in the ABCC8 gene encoding SUR1

2009 ◽  
Vol 76 (11) ◽  
pp. 1169-1172 ◽  
Author(s):  
C. M. Batra ◽  
Nomeeta Gupta ◽  
Gurdeep Atwal ◽  
Vimal Gupta
Keyword(s):  
Neonatal Diabetes ◽  
Gene Encoding ◽  
Abcc8 Gene ◽  
Activating Mutation ◽  
Transient Neonatal Diabetes

scholarly journals A Case of Transient Neonatal Diabetes Mellitus Attributable to a Nonspecific Mutation in the ABCC8 Gene

2021 ◽  
Vol 27 (2) ◽  
pp. 121-124
Author(s):  
Won Seob Shin ◽  
Hwal Rim Jeong ◽  
Ji Won Koh
Keyword(s):  
Diabetes Mellitus ◽  
Early Adulthood ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Clinical Form ◽  
Abcc8 Gene ◽  
Type 2 Dm ◽  
Chromosome 6Q24 ◽  
Transient Neonatal Diabetes

Neonatal diabetes mellitus (NDM) is defined as hyperglycemia that persists for more than 2 weeks and requires insulin therapy. NDM principally occurs before 6 months of age. Transient NDM (TNDM) is a clinical form of NDM that persists for a median of 12 weeks and resolves completely by 18 months. However, it may relapse as type 2 DM during early adulthood. The major causes of TNDM are mutations in chromosome 6q24 or the KCNJ11 or ABCC8 genes; the latter encode the two subunits of the pancreatic adenosine triphosphate (ATP)-sensitive potassium channel (KATP-channel). This condition responds well to oral sulfonylurea therapy. Herein, we report a neonate who was small for gestational age and exhibited TNDM symptoms. Genetic analysis revealed a nonspecific mutation in ABCC8; he was successfully treated with oral sulfonylurea.

scholarly journals Early insulin therapy Coordination Council

2012 ◽  
Vol 15 (4) ◽  
pp. 128-131
Author(s):  
Marina Vladimirovna Shestakova
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Insulin Secretion ◽  
Insulin Therapy ◽  
Microvascular Complications ◽  
Glucose Lowering ◽  
Endogenous Insulin

Coordination Council has denoted the importance of adherence to Russian and international guidelines and prominent role of insulin therapy in management of type 2 diabetes mellitus (T2DM). Insulin therapy in T2DM preserves endogenous insulin secretion, prevents or decelerates development of microvascular complications and is known to be the most effective glucose-lowering treatment.

scholarly journals Defects in beta cell Ca2+ signalling, glucose metabolism and insulin secretion in a murine model of KATP channel-induced neonatal diabetes mellitus

Diabetologia ◽  
2011 ◽  
Vol 54 (5) ◽  
pp. 1087-1097 ◽  
Author(s):  
R. K. P. Benninger ◽  
M. S. Remedi ◽  
W. S. Head ◽  
A. Ustione ◽  
D. W. Piston ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Secretion ◽  
Glucose Metabolism ◽  
Beta Cell ◽  
Murine Model ◽  
Katp Channel ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus

Neonatal Diabetes Mellitus Due to a Novel ABCC8 Gene Mutation Mimicking an Organic Acidemia

2013 ◽  
Vol 81 (7) ◽  
pp. 702-704 ◽  
Author(s):  
Akanksha N. Thakkar ◽  
Mamta N. Muranjan ◽  
Sunil Karande ◽  
Nalini S. Shah
Keyword(s):  
Diabetes Mellitus ◽  
Gene Mutation ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Organic Acidemia ◽  
Abcc8 Gene
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