| Autor: |
Poon SW; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong., Chung BH; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong., Wong MS; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong., Tsang AM; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong. |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Apr 19. Date of Electronic Publication: 2023 Apr 19. |
| DOI: |
10.4274/jcrpe.galenos.2023.2022-12-10 |
| Abstrakt: |
Homozygous or compound heterozygous mutations in insulin receptor gene (INSR) lead to marked insulin resistance and hyperglycaemia in Donohue syndrome and Rabson-Mendenhall syndrome, conditions which are associated with significant morbidity early in life. On the other hand, heterozygous INSR gene mutations result in milder phenotype known as type A insulin resistance syndrome. While presentation in adults with this condition is well reported, phenotypes in infant are less well-characterized. We herein report an infant presenting with hyperinsulinemic hypoglycaemia who did not respond to diazoxide therapy. She was subsequently found to carry heterozygous INSR gene mutation. Our patient was a female infant born at 29 weeks of gestation who developed recurrent hypoglycaemia in early infancy. Workup showed hyperinsulinism and she was started on first-line therapy with diazoxide and high-calorie feeds. However, continuous blood glucose monitoring showed post-prandial hyperglycaemia followed by rapid fall to hypogylcaemia. Whole exome sequencing was performed to investigate for diazoxide-unresponsive hyperinsulinism, which revealed a likely pathogenic mutation in the INSR gene c.1246C>T p. (R416X). This nonsense mutation was inherited from the father. With the molecular diagnosis, diazoxide was stopped and she followed a diet with low glycaemic-index food. Subsequent monitoring showed stable glucose profile. Our case highlights the importance to consider type A insulin resistance syndrome when no mutation could be identified in the ABCC8/KCNJ11 genes in diazoxide-unresponsive hyperinsulinism. With autosomal dominant inheritance, cascade screening should be performed in family members to identify those harbouring the mutation as they are at risk of early onset diabetes. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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