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Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

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.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...
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Diabetes Mellitus: Introduction

Diabetes mellitus consists of chronic metabolic disorders characterized by persistent hyperglycemia. This elevated blood glucose results from defects in insulin secretion, impaired insulin action, or both. Insulin, produced by pancreatic β-cells, is essential for maintaining glucose homeostasis by facilitating cellular glucose uptake for energy or storage. Disruptions in insulin production or function lead to glucose accumulation in the bloodstream, causing the clinical features and long-term...
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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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Inborn Errors of Metabolism

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...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
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Transcutaneous Microcirculatory Imaging in Preterm Neonates
06:27

Transcutaneous Microcirculatory Imaging in Preterm Neonates

Published on: December 31, 2015

Permanent neonatal diabetes mellitus.

Abdulrahman Al-Matary1, Mushtaq Hussain, Ahmed Nahari

  • 1Department of Neonatology, King Fahad Medical City Riyadh, Saudi Arabia.

The American Journal of Case Reports
|April 10, 2013
PubMed
Summary

Permanent neonatal diabetes mellitus is a rare condition causing infant hyperglycemia. Early suspicion in small infants with a family history, especially in consanguineous populations, is crucial for timely diagnosis and management.

Keywords:
consanguinitydiabeteshyperglycemiainsulinneonatalneutral protamine Hagedorn

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Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Neonatal diabetes mellitus (NDM) is a rare condition affecting 1 in 500,000 births, characterized by persistent hyperglycemia in infants.
  • Permanent neonatal diabetes mellitus is diagnosed in infants under 6 months with persistent hyperglycemia requiring insulin therapy.

Purpose of the Study:

  • To report a rare case of permanent neonatal diabetes mellitus.
  • To highlight the importance of considering NDM in infants with intrauterine growth retardation (IUGR) and hyperglycemia, particularly in populations with high consanguinity rates.

Main Methods:

  • Case report of a female infant with IUGR, hyperglycemia, and glycosuria.
  • Initial management with continuous and subcutaneous insulin infusion, followed by neutral protamine Hagedorn (NPH) insulin.
  • Assessment of family history, noting consanguinity and a sibling with a similar diagnosis.

Main Results:

  • The patient presented with IUGR (birth weight 1460g), hyperglycemia, glycosuria, and mild dehydration.
  • Suboptimal response to initial insulin therapy; significant improvement observed after initiating NPH insulin.
  • The infant was discharged on NPH insulin with regular follow-up.

Conclusions:

  • Permanent neonatal diabetes mellitus should be suspected in small-for-age infants with hyperglycemia, especially those with a positive family history and in regions with high consanguinity.
  • Close blood glucose monitoring is essential during persistent hyperglycemia.
  • Prolonged follow-up is imperative for managing NDM.