Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes
SUMMARY 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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Brazilian Society of Endocrinology and Metabolism
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| Series: | Archives of Endocrinology and Metabolism |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000500560&lng=en&tlng=en |