A 34-year-old woman was diagnosed with type 1 diabetes mellitus and treated with insulin for 24 years. The patient has a family history of diabetes in three consecutive generations. Her Whole exon sequencing showed a heterozygous mutation in the ABCC8 gene, and it also found some of her relatives to carry this mutation. She was diagnosed with MODY12 and received glimepiride therapy with the achievement of good glycaemic control.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11091440 | PMC |
http://dx.doi.org/10.1016/j.clinme.2024.100033 | DOI Listing |
Med J Armed Forces India
December 2024
Director & Commandant, Armed Forces Medical College, Pune, India.
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 PDFJCEM Case Rep
December 2024
Endocrinology Research Centre, Moscow, 117036, Russian Federation.
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 PDFDiabetes Metab Syndr Obes
November 2024
Department of Pharmaceutical Technology, Jordan University of Science and Technology, Irbid, Jordan.
Clin Genet
November 2024
Department of Clinical and Biomedical Science, University of Exeter, Exeter, UK.
Loss-of-function ABCC8 variants are the commonest cause of congenital hyperinsulinism. On a systematic search of our databases, the p.(Gly111Arg) ABCC8 variant was identified in 26 individuals, of which 23 were from the Indian Agarwal community.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!