A novel de novo mutation at the ABCC8 gene in a newborn with transient diabetes mellitus
| Autor: | İrem Eldem, Ibrahim Hakan Bucak, Mehmet Tekin, Semih Bolu, Capan Konca |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Diabetic ketoacidosis endocrine system diseases medicine.medical_treatment sulfonylurea 030209 endocrinology & metabolism 030204 cardiovascular system & hematology ABCC8 03 medical and health sciences 0302 clinical medicine Neonatal diabetes mellitus transient Diabetes mellitus neonatal diabetes mellitus medicine biology business.industry Insulin nutritional and metabolic diseases medicine.disease Case Report / Olgu Sunumu Ketoacidosis Transient neonatal diabetes mellitus Pediatrics Perinatology and Child Health Failure to thrive biology.protein medicine.symptom business ABCC8 gene |
| Zdroj: | Turkish Archives of Pediatrics/Türk Pediatri Arşivi |
| ISSN: | 1308-6278 1306-0015 |
| Popis: | Neonatal diabetes mellitus is a monogenic disease that can present with hyperglycemia, dehydration, failure to thrive, and ketoacidosis within the first six months of life. Neonatal diabetes mellitus can be transient or permanent. Here, we describe a 10-week-old infant with transient neonatal diabetes mellitus who presented with diabetic ketoacidosis and was found to have heterozygous a de novo mutation, p.Thr1381Asn in the ABCC8 gene, which encodes the SUR1 protein. There was no family history of diabetes mellitus and the parents were negative for the mutation at ABCC8. The patient started on insulin therapy and remission of diabetes occurred at 4 months of age. The patient remained euglycemic over a 2-year follow-up period without necessitating any medicine. |
| Databáze: | OpenAIRE |
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