Hyperinsulinism
Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children. Knowledge of normal glucose homeostasis allows for a better understanding of the underlying pathophys...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-03-01
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| Series: | Endocrines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2673-396X/3/1/11 |
| _version_ | 1797471873129250816 |
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| author | Ethel Gonzales Clemente Shibani Kanungo Christine Schmitt Dana Maajali |
| author_facet | Ethel Gonzales Clemente Shibani Kanungo Christine Schmitt Dana Maajali |
| author_sort | Ethel Gonzales Clemente |
| collection | DOAJ |
| description | Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children. Knowledge of normal glucose homeostasis allows for a better understanding of the underlying pathophysiology of hyperinsulinemic hypoglycemia, facilitating timely diagnosis and management. The goal of management is to prevent cerebral insults secondary to hypoglycemia, which can result in poor neurologic outcomes and intellectual disability. Responsiveness to diazoxide, the first-line pharmacologic therapy for persistent hypoglycemia, is also the first step to distinguishing the different genotypic causes of monogenic hyperinsulinism. Early genetic testing becomes necessary when monogenic HI is strongly considered. Knowledge of specific gene mutations allows the determination of a clinical prognosis and definite therapeutic options, such as identifying those with focal forms of hyperinsulinism, who may attain a complete cure through surgical removal of specific affected parts of the pancreas. However, the lack of identifiable cause in a considerable number of patients identified with HI suggests there may be other genetic loci that are yet to be discovered. Furthermore, continued research is needed to explore new forms of therapy, particularly in severe, diazoxide-nonresponsive cases. |
| first_indexed | 2024-03-09T19:54:15Z |
| format | Article |
| id | doaj.art-93ca5ae88a3943bd80627cd2285a2ed3 |
| institution | Directory Open Access Journal |
| issn | 2673-396X |
| language | English |
| last_indexed | 2024-03-09T19:54:15Z |
| publishDate | 2022-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Endocrines |
| spelling | doaj.art-93ca5ae88a3943bd80627cd2285a2ed32023-11-24T01:02:06ZengMDPI AGEndocrines2673-396X2022-03-013111512610.3390/endocrines3010011HyperinsulinismEthel Gonzales Clemente0Shibani Kanungo1Christine Schmitt2Dana Maajali3Department of Pediatric Endocrinology, Valley Children’s Healthcare, 9300 Valley Children’s Place, Madera, CA 93636, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI 49008, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI 49008, USADepartment of Pediatric and Adolescent Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI 49008, USACongenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children. Knowledge of normal glucose homeostasis allows for a better understanding of the underlying pathophysiology of hyperinsulinemic hypoglycemia, facilitating timely diagnosis and management. The goal of management is to prevent cerebral insults secondary to hypoglycemia, which can result in poor neurologic outcomes and intellectual disability. Responsiveness to diazoxide, the first-line pharmacologic therapy for persistent hypoglycemia, is also the first step to distinguishing the different genotypic causes of monogenic hyperinsulinism. Early genetic testing becomes necessary when monogenic HI is strongly considered. Knowledge of specific gene mutations allows the determination of a clinical prognosis and definite therapeutic options, such as identifying those with focal forms of hyperinsulinism, who may attain a complete cure through surgical removal of specific affected parts of the pancreas. However, the lack of identifiable cause in a considerable number of patients identified with HI suggests there may be other genetic loci that are yet to be discovered. Furthermore, continued research is needed to explore new forms of therapy, particularly in severe, diazoxide-nonresponsive cases.https://www.mdpi.com/2673-396X/3/1/11hypoglycemiainsulinglucagondiazoxide |
| spellingShingle | Ethel Gonzales Clemente Shibani Kanungo Christine Schmitt Dana Maajali Hyperinsulinism Endocrines hypoglycemia insulin glucagon diazoxide |
| title | Hyperinsulinism |
| title_full | Hyperinsulinism |
| title_fullStr | Hyperinsulinism |
| title_full_unstemmed | Hyperinsulinism |
| title_short | Hyperinsulinism |
| title_sort | hyperinsulinism |
| topic | hypoglycemia insulin glucagon diazoxide |
| url | https://www.mdpi.com/2673-396X/3/1/11 |
| work_keys_str_mv | AT ethelgonzalesclemente hyperinsulinism AT shibanikanungo hyperinsulinism AT christineschmitt hyperinsulinism AT danamaajali hyperinsulinism |