2018
DOI: 10.20945/2359-3997000000077
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Abstract: Congenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.… Show more

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Cited by 2 publications
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“…Their patient has undergone surgery but the outcome was not mentioned [ 20 ]. Sousa-Santos et al reported that even patients with the same compound heterozygous variants in the ABCC8 gene (c.3576delG and c.742 C T ) can have different phenotypes [ 21 ]. Moreover, a combination of heterozygous variants in ABCC8 and KCNJ11 genes has been reported to be responsible for CHI [ 22 ].…”
Section: Discussionmentioning
confidence: 99%
“…Their patient has undergone surgery but the outcome was not mentioned [ 20 ]. Sousa-Santos et al reported that even patients with the same compound heterozygous variants in the ABCC8 gene (c.3576delG and c.742 C T ) can have different phenotypes [ 21 ]. Moreover, a combination of heterozygous variants in ABCC8 and KCNJ11 genes has been reported to be responsible for CHI [ 22 ].…”
Section: Discussionmentioning
confidence: 99%