Neonatal Diabetes
Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic d...
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| Format: | Article |
| Language: | English |
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SAGE Publishing
2017-03-01
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| Series: | Journal of Investigative Medicine High Impact Case Reports |
| Online Access: | https://doi.org/10.1177/2324709617698718 |
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doaj-79a5d05f1f8a43869d3d6dbc7291e9882020-11-25T03:51:58ZengSAGE PublishingJournal of Investigative Medicine High Impact Case Reports2324-70962017-03-01510.1177/232470961769871810.1177_2324709617698718Neonatal DiabetesShawn Sood MD0Hannah Landreth BA1Jessee Bustinza DO2Laura Chalmers MD3Roopa Thukaram MD4The University of Oklahoma, Tulsa, OK, USAThe University of Oklahoma, Tulsa, OK, USAThe University of Oklahoma, Tulsa, OK, USAThe University of Oklahoma, Tulsa, OK, USAThe Children’s Hospital at Saint Francis, Tulsa, OK, USAContext: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel. Conclusion: This genetic diagnosis has therapeutic implications regarding the initiation of sulfonylurea administration as 85% of patients with neonatal diabetes due to ABCC8 gene mutations can be successfully treated with oral sulfonylurea treatment.https://doi.org/10.1177/2324709617698718 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Shawn Sood MD Hannah Landreth BA Jessee Bustinza DO Laura Chalmers MD Roopa Thukaram MD |
| spellingShingle |
Shawn Sood MD Hannah Landreth BA Jessee Bustinza DO Laura Chalmers MD Roopa Thukaram MD Neonatal Diabetes Journal of Investigative Medicine High Impact Case Reports |
| author_facet |
Shawn Sood MD Hannah Landreth BA Jessee Bustinza DO Laura Chalmers MD Roopa Thukaram MD |
| author_sort |
Shawn Sood MD |
| title |
Neonatal Diabetes |
| title_short |
Neonatal Diabetes |
| title_full |
Neonatal Diabetes |
| title_fullStr |
Neonatal Diabetes |
| title_full_unstemmed |
Neonatal Diabetes |
| title_sort |
neonatal diabetes |
| publisher |
SAGE Publishing |
| series |
Journal of Investigative Medicine High Impact Case Reports |
| issn |
2324-7096 |
| publishDate |
2017-03-01 |
| description |
Context: Neonatal diabetes mellitus, a rare condition occurring in approximately 1 in 500 000 live births, is defined as insulin-requiring hyperglycemia presenting in the first months of life. Neonatal diabetes can be transient or permanent, with studies characterizing the condition as a monogenic disorder. Case Report: We describe a case of a 9-week-old infant with neonatal diabetes who presented in diabetic ketoacidosis due to a mutation affecting the ABCC8 gene that encodes the SUR1 subunit of the potassium ATP channel. Conclusion: This genetic diagnosis has therapeutic implications regarding the initiation of sulfonylurea administration as 85% of patients with neonatal diabetes due to ABCC8 gene mutations can be successfully treated with oral sulfonylurea treatment. |
| url |
https://doi.org/10.1177/2324709617698718 |
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AT shawnsoodmd neonataldiabetes AT hannahlandrethba neonataldiabetes AT jesseebustinzado neonataldiabetes AT laurachalmersmd neonataldiabetes AT roopathukarammd neonataldiabetes |
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