Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes.

Diabetes Metab

Endocrinology, Nutrition and Diabetes Department, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, 75651 Paris cedex 13, France.

Published: June 2009

Activating mutations in genes KCNJ11 and ABCC8, which form the ATP-sensitive K+channel (K(ATP) channel), have been shown to cause transient or permanent neonatal diabetes. We describe here a rather different phenotype: two cases of adult diabetic patients-considered and treated as insulin-dependent diabetic patients since adolescence-who, in fact, turned out to be heterozygous for an ABCC8 mutation and able to successfully discontinue insulin while taking sulphonylurea treatment.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.diabet.2009.01.003DOI Listing

Publication Analysis

Top Keywords

mutations abcc8
4
abcc8 gene
4
gene autoantibody-negative
4
autoantibody-negative insulin-dependent
4
insulin-dependent diabetes
4
diabetes activating
4
activating mutations
4
mutations genes
4
genes kcnj11
4
kcnj11 abcc8
4

Similar Publications

Analyzing the genetic architecture of hereditary forms of diabetes in different populations is a critical step toward optimizing diagnostic and preventive algorithms. This requires consideration of regional and population-specific characteristics, including the spectrum and frequency of pathogenic variants in targeted genes. As part of this study, we used a custom-designed NGS panel to screen for mutations in 28 genes associated with the pathogenesis of hereditary diabetes mellitus in 506 unrelated patients from Russia.

View Article and Find Full Text PDF

Neonatal diabetes mellitus is a rare disorder with prevalence of one in 400,000 live births that's defined by persistent hyperglycaemia within the first six months of life. Neonatal diabetes is heterogeneous and can be transient or permanent. Developmental delay, Epilepsy and Neonatal Diabetes (DEND) syndrome is characterised by developmental delay, epilepsy, and neonatal diabetes.

View Article and Find Full Text PDF

Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the () gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course.

View Article and Find Full Text PDF
Article Synopsis
  • A four-year-old girl experienced persistent hypoglycemia shortly after birth and was diagnosed with congenital hyperinsulinism due to genetic mutations in the ABCC8 gene.
  • She did not respond to typical treatments like oral diazoxide but showed improvement with subcutaneous somatostatin injections.
  • At age three and a half, her treatment was changed to a long-acting somatostatin analogue, leading to better blood sugar control, normal growth, and the ability to stop tube feeding.
View Article and Find Full Text PDF
Article Synopsis
  • Hyperinsulinemic Hypoglycemia (HH) is a rare condition in newborns characterized by low blood glucose levels, posing serious risks particularly to brain health without proper treatment.
  • It can be caused by mutations in 16 genes related to glucose metabolism and insulin release, which can affect pancreatic beta cells either diffusely or locally.
  • The review focuses on genetic variations, diagnosis, and treatment options for Hyperinsulinemic Hypoglycemia.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!