Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes

The enhancer of PTF1A mutation causes developmental defects of the pancreas. This condition can result in insulin-requiring diabetes and exocrine pancreatic insufficiency. We report two patients with diabetes mellitus harboring the homozygous PTF1A enhancer mutation. The patients had hyperglycemia...

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Main Authors: Erdal Kurnaz, Zehra Aycan, Nurdan Yıldırım, Semra Çetinkaya
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2017-08-01
Series:The Turkish Journal of Pediatrics
Subjects:
Online Access:https://turkjpediatr.org/article/view/1014
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author Erdal Kurnaz
Zehra Aycan
Nurdan Yıldırım
Semra Çetinkaya
author_facet Erdal Kurnaz
Zehra Aycan
Nurdan Yıldırım
Semra Çetinkaya
author_sort Erdal Kurnaz
collection DOAJ
description The enhancer of PTF1A mutation causes developmental defects of the pancreas. This condition can result in insulin-requiring diabetes and exocrine pancreatic insufficiency. We report two patients with diabetes mellitus harboring the homozygous PTF1A enhancer mutation. The patients had hyperglycemia in the first month of life and were started with subcutaneous insulin injections with NPH insulin. When blood glucose (BG) exceeded 250 mg/dl, a conservative dose of rapid-acting insulin was administered to restore BG to the target range. In cases with documented poor control (persistent hypoglycemia and rebound hyperglycemia), it was decided that the baby would benefit from a continuous subcutaneous insulin infusion pump. But our experience shows that wide fluctuations in BG concentrations despite the strict follow-up was probably due to the absence of circulating glucagon. Further treatment options would overcome this problem, especially for children with pancreas agenesis. We could say theoretically that using diluted insulin, a sensor-augmented insulin pump system and single-hormone (insulin alone) and dual-hormone (insulin and glucagon) artificial pancreas systems may mitigate the severity of hypogylcemia.
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institution DOAJ
issn 0041-4301
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language English
publishDate 2017-08-01
publisher Hacettepe University Institute of Child Health
record_format Article
series The Turkish Journal of Pediatrics
spelling doaj-art-b454a11300d544888be6feedd28cce8f2025-08-20T03:16:22ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-08-0159410.24953/turkjped.2017.04.013Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetesErdal Kurnaz0Zehra Aycan1Nurdan Yıldırım2Semra Çetinkaya3Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.Clinic of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey. The enhancer of PTF1A mutation causes developmental defects of the pancreas. This condition can result in insulin-requiring diabetes and exocrine pancreatic insufficiency. We report two patients with diabetes mellitus harboring the homozygous PTF1A enhancer mutation. The patients had hyperglycemia in the first month of life and were started with subcutaneous insulin injections with NPH insulin. When blood glucose (BG) exceeded 250 mg/dl, a conservative dose of rapid-acting insulin was administered to restore BG to the target range. In cases with documented poor control (persistent hypoglycemia and rebound hyperglycemia), it was decided that the baby would benefit from a continuous subcutaneous insulin infusion pump. But our experience shows that wide fluctuations in BG concentrations despite the strict follow-up was probably due to the absence of circulating glucagon. Further treatment options would overcome this problem, especially for children with pancreas agenesis. We could say theoretically that using diluted insulin, a sensor-augmented insulin pump system and single-hormone (insulin alone) and dual-hormone (insulin and glucagon) artificial pancreas systems may mitigate the severity of hypogylcemia. https://turkjpediatr.org/article/view/1014PTF1A enhancer mutationconventional insulin pump therapyneonatal diabetes
spellingShingle Erdal Kurnaz
Zehra Aycan
Nurdan Yıldırım
Semra Çetinkaya
Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes
The Turkish Journal of Pediatrics
PTF1A enhancer mutation
conventional insulin pump therapy
neonatal diabetes
title Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes
title_full Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes
title_fullStr Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes
title_full_unstemmed Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes
title_short Conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous PTF1A enhancer mutation: Need for a novel approach for the management of neonatal diabetes
title_sort conventional insulin pump therapy in two neonatal diabetes patients harboring the homozygous ptf1a enhancer mutation need for a novel approach for the management of neonatal diabetes
topic PTF1A enhancer mutation
conventional insulin pump therapy
neonatal diabetes
url https://turkjpediatr.org/article/view/1014
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AT zehraaycan conventionalinsulinpumptherapyintwoneonataldiabetespatientsharboringthehomozygousptf1aenhancermutationneedforanovelapproachforthemanagementofneonataldiabetes
AT nurdanyıldırım conventionalinsulinpumptherapyintwoneonataldiabetespatientsharboringthehomozygousptf1aenhancermutationneedforanovelapproachforthemanagementofneonataldiabetes
AT semracetinkaya conventionalinsulinpumptherapyintwoneonataldiabetespatientsharboringthehomozygousptf1aenhancermutationneedforanovelapproachforthemanagementofneonataldiabetes