A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation
Hyperinsulinemic hypoglycemia is a rare disease affecting infants and children. The frequency of HNF4A mutation is the third most common type following ABCC8 and KCNJ11 mutations. HNF4A inactivating mutations may cause hyperinsulinemic hypoglycemia generally in the neonatal period by impairing insul...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2020-06-01
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| Series: | Journal of Pediatric Research |
| Subjects: | |
| Online Access: |
http://jpedres.org/archives/archive-detail/article-preview/a-case-of-late-onset-hyperinsulinemic-hypoglycemia/38453
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| _version_ | 1797913763257516032 |
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| author | Gülçin Arslan Sezer Acar Taha Reşid Özdemir Özlem Nalbantoğlu Özgür Kırbıyık Özge Köprülü Beyhan Özkaya Behzat Özkan |
| author_facet | Gülçin Arslan Sezer Acar Taha Reşid Özdemir Özlem Nalbantoğlu Özgür Kırbıyık Özge Köprülü Beyhan Özkaya Behzat Özkan |
| author_sort | Gülçin Arslan |
| collection | DOAJ |
| description | Hyperinsulinemic hypoglycemia is a rare disease affecting infants and children. The frequency of HNF4A mutation is the third most common type following ABCC8 and KCNJ11 mutations. HNF4A inactivating mutations may cause hyperinsulinemic hypoglycemia generally in the neonatal period by impairing insulin production and the secretion in pancreatic cells. Herein, we present a case of an 8-month-old girl with hyperinsulinemic hypoglycemia who had normal birth weight. In this case, hypoglycemia became prominent after acute gastroenteritis and long-term glucose infusion was administrated to overcome hypoglycemia. On follow up, diazoxide treatment up to 12 mg/kg/day was required to achieve normal glucose levels. In the molecular genetic analysis, a heterozygous mutation was found in the HNF4A gene (c.266G> A, p.R89Q), which was previously described in a case with MODY (maturity-onset diabetes of the young) type 1. During two weeks of hospitalization, while the glucose infusion rate was tapered, oral feeding was increased. Diazoxide treatment continued after discharge and was gradually stopped when she was at the age of 14 months. Afterwards, no hypoglycemia was observed. HNF4A gene mutation should be kept in mind even if there is no macrosomia or family history of diabetes in patients presenting with hypoglycemia and requiring diazoxide therapy. |
| first_indexed | 2024-04-10T12:16:55Z |
| format | Article |
| id | doaj.art-86137bb059904b54bbb9e2c291fb1adb |
| institution | Directory Open Access Journal |
| issn | 2147-9445 2587-2478 |
| language | English |
| last_indexed | 2024-04-10T12:16:55Z |
| publishDate | 2020-06-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Journal of Pediatric Research |
| spelling | doaj.art-86137bb059904b54bbb9e2c291fb1adb2023-02-15T16:15:41ZengGalenos YayineviJournal of Pediatric Research2147-94452587-24782020-06-017216817110.4274/jpr.galenos.2019.3603413049054A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A MutationGülçin Arslan0Sezer Acar1Taha Reşid Özdemir2Özlem Nalbantoğlu3Özgür Kırbıyık4Özge Köprülü5Beyhan Özkaya6Behzat Özkan7 University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, İzmir Tepecik Training and Research Hospital, Genetic Diagnostic Center, İzmir, Turkey University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, İzmir Tepecik Training and Research Hospital, Genetic Diagnostic Center, İzmir, Turkey University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey University of Health Sciences Turkey, Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey Hyperinsulinemic hypoglycemia is a rare disease affecting infants and children. The frequency of HNF4A mutation is the third most common type following ABCC8 and KCNJ11 mutations. HNF4A inactivating mutations may cause hyperinsulinemic hypoglycemia generally in the neonatal period by impairing insulin production and the secretion in pancreatic cells. Herein, we present a case of an 8-month-old girl with hyperinsulinemic hypoglycemia who had normal birth weight. In this case, hypoglycemia became prominent after acute gastroenteritis and long-term glucose infusion was administrated to overcome hypoglycemia. On follow up, diazoxide treatment up to 12 mg/kg/day was required to achieve normal glucose levels. In the molecular genetic analysis, a heterozygous mutation was found in the HNF4A gene (c.266G> A, p.R89Q), which was previously described in a case with MODY (maturity-onset diabetes of the young) type 1. During two weeks of hospitalization, while the glucose infusion rate was tapered, oral feeding was increased. Diazoxide treatment continued after discharge and was gradually stopped when she was at the age of 14 months. Afterwards, no hypoglycemia was observed. HNF4A gene mutation should be kept in mind even if there is no macrosomia or family history of diabetes in patients presenting with hypoglycemia and requiring diazoxide therapy. http://jpedres.org/archives/archive-detail/article-preview/a-case-of-late-onset-hyperinsulinemic-hypoglycemia/38453 hyperinsulinemic hypoglycemiahnf4a genediazoxide therapy |
| spellingShingle | Gülçin Arslan Sezer Acar Taha Reşid Özdemir Özlem Nalbantoğlu Özgür Kırbıyık Özge Köprülü Beyhan Özkaya Behzat Özkan A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation Journal of Pediatric Research hyperinsulinemic hypoglycemia hnf4a gene diazoxide therapy |
| title | A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation |
| title_full | A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation |
| title_fullStr | A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation |
| title_full_unstemmed | A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation |
| title_short | A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation |
| title_sort | case of late onset hyperinsulinemic hypoglycemia hnf4a mutation |
| topic | hyperinsulinemic hypoglycemia hnf4a gene diazoxide therapy |
| url |
http://jpedres.org/archives/archive-detail/article-preview/a-case-of-late-onset-hyperinsulinemic-hypoglycemia/38453
|
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