Abstract |
Neonatal diabetes mellitus is considered a rare disease that is diagnosed in the first six months of life, and can be either transient or permanent. Recent advances in molecular genetics have shown that activating mutations in KCNJ11 (the gene that encodes for the Kir6.2 subunit of the K ATP potassium channel of the pancreatic beta-cell) is a common cause of permanent neonatal diabetes mellitus. Patients with mutations in this gene may respond to oral sulfonylureas. We describe a 3-year-old girl with permanent neonatal diabetes mellitus with a mutation in the KCNJ11 gene (R201H), who was successfully transferred from subcutaneous insulin to oral glibenclamide, with a marked improvement in glycemic control. This is the first successful switch from insulin to oral sulfonylurea in a patient with R201H mutation, in the Arabian Gulf.
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Authors | Maria Al-Mahdi, Angham Al Mutair, Mohammed Al Balwi, Khalid Hussain |
Journal | Annals of Saudi medicine
(Ann Saudi Med)
2010 Mar-Apr
Vol. 30
Issue 2
Pg. 162-4
ISSN: 0975-4466 [Electronic] Saudi Arabia |
PMID | 20220270
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Hypoglycemic Agents
- Insulin
- Kir6.2 channel
- Potassium Channels, Inwardly Rectifying
- Sulfonylurea Compounds
- Glyburide
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Topics |
- Administration, Oral
- Child, Preschool
- Diabetes Mellitus, Type 1
(drug therapy, genetics)
- Female
- Glyburide
(therapeutic use)
- Humans
- Hypoglycemic Agents
(therapeutic use)
- Insulin
(therapeutic use)
- Mutation
- Potassium Channels, Inwardly Rectifying
(genetics)
- Sulfonylurea Compounds
(therapeutic use)
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