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SHR Neuro Cancer Cardio Lipid Metab Microb
Ioacara, S; Flanagan, S; Fröhlich-Reiterer, E; Goland, R; Fica, S.
First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment.
J Diabetes Investig. 2017; 8(5):716-719
Doi: 10.1111/jdi.12620
(- Case Report)
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- Co-authors Med Uni Graz
- Fröhlich-Reiterer Elke
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- Abstract:
- In this report, we present the first known case of intermediate developmental delay, epilepsy and permanent neonatal diabetes (DEND) syndrome caused by a Q52R mutation in the KCNJ11 gene who was successfully switched (at age 1.3 years) to sulphonylurea monotherapy, namely glibenclamide. The most recent evaluation, after 2 years, showed a glycated hemoglobin level of 6.0% (42 mmol/mol). This mutation is so severe that none of the previously reported four cases were able to switch from insulin to sulphonylurea monotherapy. The Q52R mutation seems to have a chance of positive response to glibenclamide administered every 3-6 h instead of the classical 8-12 h, in doses around or above 2.5 mg/kg/day. © 2017 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.
- Find related publications in this database (using NLM MeSH Indexing)
- Developmental Disabilities - complications
- Diabetes Mellitus - drug therapy
- Diabetes Mellitus - genetics
- Epilepsy - complications
- Glyburide - therapeutic use
- Humans -
- Hypoglycemic Agents - therapeutic use
- Infant, Newborn -
- Insulin - therapeutic use
- Male -
- Mutation -
- Potassium Channels, Inwardly Rectifying - genetics
- Sulfonylurea Compounds - therapeutic use
- Treatment Outcome -
- Find related publications in this database (Keywords)
- Neonatal diabetes
- Pediatric diabetes
- Sulphonylurea