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Related Concept Videos

Type I Diabetes I: Introduction01:12

Type 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...
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
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...
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes 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 II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...

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Polyglandular autoimmune syndrome type I.

Emmanuelle Proust-Lemoine1, Pascale Saugier-Veber, Jean-Louis Wémeau

  • 1CHRU de Lille, hôpital Claude-Huriez, clinique endocrinologique Marc-Linquette, 4e Ouest, 59037 Lille cedex, France.

Presse Medicale (Paris, France : 1983)
|November 28, 2012
PubMed
Summary

Polyglandular Autoimmune Syndrome type 1 (PAS-1), also known as Autoimmune Polyendocrinopathy Candidiasis-Ectodermal-Dystrophy (APECED), is a rare genetic disorder caused by AIRE gene mutations. Diagnosis can be challenging with atypical presentations, often requiring molecular genetics for confirmation.

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Area of Science:

  • Genetics and Immunology
  • Endocrinology
  • Rare Diseases

Background:

  • Polyglandular Autoimmune Syndrome type 1 (PAS-1)/Autoimmune Polyendocrinopathy Candidiasis-Ectodermal-Dystrophy (APECED) is a rare autosomal recessive disorder.
  • It is linked to mutations in the Autoimmune Regulator (AIRE) gene, crucial for immune tolerance.
  • Classical diagnosis relies on Whitaker's triad (candidiasis, hypoparathyroidism, adrenal insufficiency).

Purpose of the Study:

  • To highlight the diagnostic challenges of atypical PAS-1/APECED variants.
  • To emphasize the role of molecular genetics in diagnosing non-classical cases.
  • To discuss prognostic factors and treatment strategies for severe manifestations.

Main Methods:

  • Review of clinical presentations and diagnostic criteria for PAS-1/APECED.
  • Discussion of molecular genetics in identifying AIRE gene mutations.
  • Analysis of factors influencing prognosis and treatment outcomes.

Main Results:

  • Atypical PAS-1/APECED presentations may not meet classical diagnostic criteria.
  • Digestive, cutaneous, and ophthalmological symptoms can be predominant in some cases.
  • Molecular genetics is essential for diagnosing variants with atypical or mild symptoms.

Conclusions:

  • Early and accurate diagnosis of PAS-1/APECED, especially atypical forms, is crucial.
  • Prognosis is influenced by genetic, hormonal, and environmental factors.
  • Aggressive management of infections and immunosuppressive therapy for severe complications are vital.