Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up
Background. Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. Case. In this report, we describe a 10-year-old girl who is heterozygous for a new missense mutation in the KCNJ11 gene and whose treatm...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2021-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/323 |
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| author | Maja D Ješić Helena Stock Vera Zdravković Smiljka Kovačević Marko Savić Miloš M Ješić |
| author_facet | Maja D Ješić Helena Stock Vera Zdravković Smiljka Kovačević Marko Savić Miloš M Ješić |
| author_sort | Maja D Ješić |
| collection | DOAJ |
| description |
Background. Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes.
Case. In this report, we describe a 10-year-old girl who is heterozygous for a new missense mutation in the KCNJ11 gene and whose treatment was successfully switched from insulin to sulfonylurea (glibenclamide) therapy when she was one month old. 10-year data on a low-dose of glibenclamide monotherapy showed excellent glycaemic control with no reports of severe hypoglycaemia and microvascular complications.
Conclusion. An early genetic diagnosis of neonatal diabetes mellitus is highly beneficial because early switch from insulin to sulfonylurea is safe, avoids unnecessary insulin therapy and promotes sustained improvement of glycaemic control on long-term follow-up.
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| format | Article |
| id | doaj-art-5b82db9ace3e49c8afdba5d086a550de |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2021-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-5b82db9ace3e49c8afdba5d086a550de2025-08-20T02:55:41ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212021-06-0163310.24953/turkjped.2021.03.016Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-upMaja D JešićHelena Stock0Vera ZdravkovićSmiljka Kovačević1Marko Savić2Miloš M JešićDepartment of Pediatric Endocrinology, University Children's Hospital Tiršova, Belgrade.Department of Pediatric Endocrinology, University Children's Hospital Tiršova, Belgrade.Institute of Medical Statistics and Informatics, Faculty of Medicine, Belgrade, Serbia. Background. Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. Case. In this report, we describe a 10-year-old girl who is heterozygous for a new missense mutation in the KCNJ11 gene and whose treatment was successfully switched from insulin to sulfonylurea (glibenclamide) therapy when she was one month old. 10-year data on a low-dose of glibenclamide monotherapy showed excellent glycaemic control with no reports of severe hypoglycaemia and microvascular complications. Conclusion. An early genetic diagnosis of neonatal diabetes mellitus is highly beneficial because early switch from insulin to sulfonylurea is safe, avoids unnecessary insulin therapy and promotes sustained improvement of glycaemic control on long-term follow-up. https://turkjpediatr.org/article/view/323neonatal diabetes mellitusnew KCNJ11 mutationsulfonylurea therapy |
| spellingShingle | Maja D Ješić Helena Stock Vera Zdravković Smiljka Kovačević Marko Savić Miloš M Ješić Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up The Turkish Journal of Pediatrics neonatal diabetes mellitus new KCNJ11 mutation sulfonylurea therapy |
| title | Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up |
| title_full | Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up |
| title_fullStr | Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up |
| title_full_unstemmed | Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up |
| title_short | Neonatal diabetes mellitus due to a new KCNJ11 mutation - 10 years of the patient`s follow-up |
| title_sort | neonatal diabetes mellitus due to a new kcnj11 mutation 10 years of the patient s follow up |
| topic | neonatal diabetes mellitus new KCNJ11 mutation sulfonylurea therapy |
| url | https://turkjpediatr.org/article/view/323 |
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