A Neonatal Case of Congenital Hyperinsulinism Due to Homozygous KCNJ11 Gene Mutation
نویسندگان
چکیده
منابع مشابه
Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 (KCNJ11) Mutation V290M Mutation
OBJECTIVE The ATP-sensitive K(+) channel (K(ATP)) controls insulin secretion from the islet. Gain- or loss-of-function mutations in channel subunits underlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively. In this study, we sought to identify the mechanistic basis of K(ATP)-induced HI in two probands and to characterize the clinical course. RESEARCH DESIGN AND METHO...
متن کاملA Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus
Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology. Genetic analysis is important in the diagnosis, treatment, patient follow-up, a...
متن کاملA Newborn with Congenital Hyperinsulinism having a Novel Homozygous Mutation in the ABCC8 Gene
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. It is characterized by the unregulated secretion of insulin from pancreatic Bcells in relation to blood glucose concentration. We reported the case of full term, appropriate for gestational age newborn suffered from CHI and developed severe and persistent hypoglycemia which unresponsive...
متن کاملCoexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy
BACKGROUND Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at c...
متن کاملNeonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene.
BACKGROUND Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy. METHODS A 5-week-old boy presented with diabetic ketoacidosis. Molecular genetic analysis of the patient revealed heterozygous missense mutation, L233F in the KCNJ11 gene, w...
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ژورنال
عنوان ژورنال: The Journal of Tepecik Education and Research Hospital
سال: 2017
ISSN: 1305-7073
DOI: 10.5222/terh.2017.163