| CASE REPORT |
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Year : 2010 | Volume : 30 | Issue : 2 | Page : 162-164 |
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Successful transfer from insulin to oral sulfonylurea in a 3-year-old girl with a mutation in the KCNJ11 gene
Maria Al-Mahdi1, Angham Al Mutair2, Mohammed Al Balwi3, Khalid Hussain4
1 Pediatric Endocrinology Unit, Pediatric Department, King Abdul-Aziz Medical City, National Guard Hospital, Riyadh, Saudi Arabia
2 Department of Pediatric, King Fahed National Guard Hospital, King Abdul Aziz Medical City, Riyadh, Saudi Arabia
3 Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia
4 Department of Molecular Genetics, Institute of Child Health, University College London, London, United Kingdom
Correspondence Address:
Angham Al Mutair
Department of Pediatric Medicine, King Fahed National Guard Hospital, King Abdul Aziz Medical City, P.O.Box Riyadh
Saudi Arabia
DOI: 10.4103/0.
PMID:
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| 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 β-cell) is a common cause of permanent neonatal diabetes mellitus. Patients with mutations in this gene may respond to oral sulfonyureas. 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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