Abstract
The Growth History of a Girl carrying ABCC8 Gene Mutation resulting in Congenital Hyperinsulinism
Highlights
Congenital hyperinsulinism (CHI) or persistent hyperinsulinemic hypoglycemia (HH) of infancy is the most critical cause of persistent hypoglycemia in infants beyond the first few days after birth [1]
The most common and severe forms of CHI are due to mutations in the ABCC8 and KCNJ11 genes, encoding the sulfonylurea receptor 1 (SUR1) and inward rectifier potassium channel Kir6.2 (Kir6.2) subunits of the ATP sensitive potassium (KATP) channel, respectively [3,4]
We report a baby carrying a heterozygous mutation, R598X, in the ABCC8 gene associated with persistent hypoglycemia during the infant period
Summary
The following were performed on a female infant diagnosed to suffer from CHI. PCR and directly sequencing for mutation detection of all the 39 exons and the flanking intron–exon boundaries of ABCC8 gene, a whole-body PET CT-scan with [18F]-L-Dihydroxyphenylalanine (DOPA) to detect lesions of organs, clinicopathologic and immunohistochemical analysis for pathological diagnosis. Blood glucose was continuously monitored, and she was followed up every six months
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