期刊
DIAGNOSTICS
卷 13, 期 13, 页码 -出版社
MDPI
DOI: 10.3390/diagnostics13132271
关键词
neonatal diabetes; glucose monitoring; monogenetic diabetes
Neonatal diabetes mellitus, a rare genetic disease, affects 1 in 90,000 live births. Onset of the disease is often before 6 months old, with rare cases between 6 months and 1 year. It is characterized by low or absent insulin levels, requiring temporary or permanent insulin therapy. This research discusses two cases of preterm girls with neonatal diabetes mellitus, reviewing mutations, patient care, and clinical outcomes.
Neonatal diabetes mellitus is a rare genetic disease that affects 1 in 90,000 live births. The start of the disease is often before the baby is 6 months old, with rare cases of onset between 6 months and 1 year. It is characterized by low or absent insulin levels in the blood, leading to severe hyperglycemia in the patient, which requires temporary insulin therapy in around 50% of cases or permanent insulin therapy in other cases. Two major processes involved in diabetes mellitus are a deformed pancreas with altered insulin-secreting cell development and/or survival or faulty functioning of the existing pancreatic beta cell. We will discuss the cases of two preterm girls with neonatal diabetes mellitus in this research. In addition to reviewing the literature on the topic, we examined the different mutations, patient care, and clinical outcomes both before and after insulin treatment.
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