Related Experiment Video
Updated: Jul 5, 2026
19:15
Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
[Neonatal diabetes mellitus].
Lucimary C Gurgel1, Regina S Moisés
1Escola Paulista de Medicina, Universidade Federal de São PauloSP, Brasil.
Arquivos Brasileiros De Endocrinologia E Metabologia
|April 29, 2008
Summary
Neonatal diabetes, a rare infant hyperglycemia, is often transient or permanent due to genetic defects. Understanding these causes, like chromosome 6q24 abnormalities or KCNJ11 mutations, guides essential insulin treatment.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Context:
- Neonatal diabetes mellitus (NDM) is a rare disorder presenting with hyperglycemia in early infancy.
- It necessitates insulin therapy and is classified as transient or permanent based on its duration.
- Genetic factors are key determinants of NDM subtypes.
Purpose:
- To outline the clinical presentations of neonatal diabetes.
- To elucidate the genetic underpinnings of transient and permanent NDM.
- To discuss the therapeutic strategies informed by genetic findings.
Summary:
- Transient NDM is frequently linked to aberrations in the imprinted 6q24 region on chromosome 6.
- Permanent NDM most commonly arises from activating mutations in the KCNJ11 gene, affecting the Kir6.2 subunit of ATP-sensitive potassium channels.
- Both forms are genetically diverse, highlighting the need for precise diagnosis.
Impact:
- Improved understanding of NDM genetics facilitates targeted therapies.
- Genetic insights can predict disease course and inform treatment decisions.
- Advances in NDM management enhance long-term patient outcomes.
Related Concept Videos
01:20Pathophysiology 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...
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...
01:22Diabetes Mellitus: Type 2 and Gestational
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...
01:26Diabetes 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...
01:22Diabetes Mellitus: Overview and Type I Subtype
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.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
01:19Type 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...
01:12Type I Diabetes I: Introduction
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...