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Pathophysiology of Diabetes01:20

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Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
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Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
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Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
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Neonatal Diabetes Mellitus.

Jacques Beltrand1,2,3, Kanetee Busiah1,4, Laurence Vaivre-Douret1,2,5

  • 1Paediatric Endocrinology, Gynaecology and Diabetology, Necker-Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris, IMAGINE Institute, ENDO-European Reference Network Team, Paris, France.

Frontiers in Pediatrics
|October 26, 2020
PubMed
Summary

Neonatal diabetes mellitus (NDM) is a rare genetic disorder causing severe hyperglycemia. Genetic causes and clinical features vary, but many patients can switch from insulin to oral sulfonylureas.

Keywords:
ABCC8KCNJ11 (Kir6.2)associated malformationschromosome 6q24 abnormalityneonatal diabetes mellitusneuropsychological disordersulfonylurea receptor (SUR1)

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Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Neonatal diabetes mellitus (NDM) is a rare genetic disorder affecting 1 in 90,000 live births, characterized by severe hyperglycemia.
  • It presents before one year of age, requiring insulin treatment in about half of cases.
  • NDM arises from pancreatic malformations or dysfunctional pancreatic beta cells.

Purpose of the Study:

  • To review the genetic causes and clinical characteristics of neonatal diabetes mellitus.
  • To highlight the importance of genetic diagnosis in guiding treatment strategies.
  • To emphasize the need for long-term multidisciplinary follow-up for NDM patients.

Main Methods:

  • Literature review of genetic causes of NDM.
  • Analysis of clinical presentations and outcomes based on genetic etiology.
  • Evaluation of treatment responses, including insulin and oral sulfonylureas.

Main Results:

  • Frequent genetic causes include 6q24 abnormalities and mutations in ABCC8 or KCNJ11 genes.
  • ABCC8/KCNJ11 mutations are associated with neurological disorders, while 6q24 abnormalities correlate with lower birth weight and higher malformation rates.
  • Up to 86% of patients experiencing remission may have recurrent diabetes in puberty, irrespective of genetic origin.
  • Approximately 90% of patients with ABCC8/KCNJ11 mutations or 6q24 anomalies can successfully transition from insulin injections to oral sulfonylureas.

Conclusions:

  • Genetic diagnosis is crucial for understanding NDM pathophysiology and predicting clinical course.
  • Long-term multidisciplinary care is essential for managing NDM patients throughout their lives.
  • Many NDM patients can achieve glycemic control with oral sulfonylureas, offering an alternative to insulin therapy.