A Recessive Mutation in the Insulin Gene in Neonatal Diabetes
Neonatal diabetes mellitus (DM) is a persistent hyperglycemia occurring in the first 4-6 weeks of life that lasts more than two weeks and requires insulin for management. We report a case of a 23-day-old boy with neonatal diabetes due to recessive inheritance INS promoter C-331 C>A mutation accom...
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| Veröffentlicht in: | Turkish Journal of Endocrinology and Metabolism 2015-03, Vol.19 (1), p.25-27 |
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| container_title | Turkish Journal of Endocrinology and Metabolism |
| container_volume | 19 |
| creator | Al-Agha, Abdulmoein Eid Ahmad, Ihab Abd Al-hameed Basnawi, Faten Adnan Abdullah AL-Nasser, Elaf Yahia Faraj |
| description | Neonatal diabetes mellitus (DM) is a persistent hyperglycemia occurring in the first 4-6 weeks of life that lasts more than two weeks and requires insulin for management. We report a case of a 23-day-old boy with neonatal diabetes due to recessive inheritance INS promoter C-331 C>A mutation accompanied by diabetic ketoacidosis (DKA). The hyperglycemia and ketoacidosis resolved by the 48th hour of treatment consisting of IV insulin and rehydration. Subsequently, insulin treatment was continued with neutral protamine Hagedorn (NPH) insulin. Neonatal DM due to genetic mutation may mimic sepsis and should be kept in mind for all newborns who present with shortness of breath, vomiting, and dehydration. |
| doi_str_mv | 10.4274/tjem.2326 |
| format | Article |
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We report a case of a 23-day-old boy with neonatal diabetes due to recessive inheritance INS promoter C-331 C>A mutation accompanied by diabetic ketoacidosis (DKA). The hyperglycemia and ketoacidosis resolved by the 48th hour of treatment consisting of IV insulin and rehydration. Subsequently, insulin treatment was continued with neutral protamine Hagedorn (NPH) insulin. 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| title | A Recessive Mutation in the Insulin Gene in Neonatal Diabetes |
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