Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.

Details

Serval ID
serval:BIB_91DFF95FA52E
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8.
Journal
Annals of pediatric endocrinology & metabolism
Author(s)
Mouron-Hryciuk J., Stoppa-Vaucher S., Busiah K., Bouthors T., Antoniou M.C., Jacot E., Brusgaard K., Christesen H.T., Hussain K., Dwyer A., Roth-Kleiner M., Hauschild M.
ISSN
2287-1012 (Print)
ISSN-L
2287-1012
Publication state
Published
Issued date
03/2021
Peer-reviewed
Oui
Volume
26
Number
1
Pages
60-65
Language
english
Notes
Publication types: Case Reports
Publication Status: ppublish
Abstract
Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin that leads to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report 2 patients that experienced severe HH from the first day of life. Patient 1 developed midgut volvulus after initiating diazoxide and required intestinal resection. He was subsequently managed with a high-dose octreotide and glucose-enriched diet. Consistent with diffuse type CHI by 18F-dihydroxyphenylalanine positron emission tomography-computed tomography, genetic testing revealed a homozygous ABCC8 variant, c.1801G>A, p.(Val601Ile). The rare variant was previously reported to be diazoxide-responsive, and the patient responded well to diazoxide monotherapy, with clinical remission at 2 years of age. Patient 2 responded to diazoxide with spontaneous clinical remission at 15 months of age. However, an oral glucose tolerance test at 7 years of age revealed hyperinsulinism. Genetic testing revealed that the proband and several seemingly healthy family members harbored a novel, heterozygous ABCC8 variant, c.1780T>C, p.(Ser594Pro). Genetic findings identified previously unrecognized HH in the proband's mother. The proband's uncle had been diagnosed with monogenic ABCC8-diabetes and was successfully transitioned from insulin to glibenclamide therapy. We report findings of intestinal malrotation and volvulus occurring 2 days after initiation of diazoxide treatment. We also report a novel, heterozygous ABCC8 variant in a family that exhibited cases of CHI in infancy and HH and monogenic diabetes in adult members. The cases demonstrate the importance and clinical utility of genetic analyses for informing and guiding treatment and care.
Keywords
ABCC8, Congenital Hyperinsulinism, Hypoglycemia, Midgut Volvulus, Monogenic Diabetes, Congenital hyperinsulinism, Midgut volvulus, Monogenic diabetes
Pubmed
Web of science
Open Access
Yes
Create date
15/09/2020 10:58
Last modification date
01/05/2021 6:32
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