| Autor: |
Qiao Zeng, Yan-Mei Sang |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1750-1172 |
| DOI: |
10.1186/s13023-023-02624-6 |
| Popis: |
Abstract Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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