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Related Concept Videos

Chronic Obstructive Pulmonary Disease I: Introduction01:23

Chronic Obstructive Pulmonary Disease I: Introduction

Chronic obstructive pulmonary disease is a common, preventable, and treatable respiratory disorder characterized by persistent symptoms and progressive airflow limitation. This limitation results from a combination of small-airway disease (obstructive bronchiolitis) and parenchymal destruction (emphysema), both driven by chronic inflammation from exposure to harmful particles or gases.The disease includes two main pathological entities: emphysema, marked by destruction of alveolar walls and...
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...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
Chronic Pancreatitis II: Pathophysiology01:21

Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...
Chronic Pancreatitis I: Introduction01:25

Chronic Pancreatitis I: Introduction

Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Alpha1-antitrypsin deficiency: forgotten etiology.

Alan Kaplan1, Lidia Cosentino

  • 1for4kids@gmail.com

Canadian Family Physician Medecin De Famille Canadien
|January 22, 2010
PubMed
Summary

Alpha1-antitrypsin deficiency (AATD) is an underrecognized genetic disorder causing early lung and liver disease. Prompt diagnosis and AAT augmentation therapy can slow lung function decline.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Hepatology

Background:

  • Alpha1-antitrypsin deficiency (AATD) is a genetic disorder resulting in low serum levels of alpha1-antitrypsin (AAT).
  • AATD predisposes individuals to early-onset pulmonary conditions like emphysema and COPD, and sometimes severe liver disease.
  • It is a common inherited condition, affecting approximately 1 in 2000 to 5000 individuals, yet remains underdiagnosed.

Purpose of the Study:

  • To review alpha1-antitrypsin deficiency (AATD).
  • To discuss alpha1-antitrypsin (AAT) augmentation therapy.
  • To outline recommendations for the timely recognition and treatment of AATD.

Main Methods:

  • A review of published guidelines and medical literature.
  • Searches conducted in PubMed and Cochrane Library databases.

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  • Literature search limited to English-language articles published between 1990 and 2009.

    • Main Results:

    • AATD is an underrecognized genetic disorder linked to early-onset pulmonary disease (emphysema, COPD) and liver disease.
    • Despite no cure, early diagnosis of AATD is crucial for slowing lung function loss.
    • Augmentation therapy is an effective treatment for AAT deficiency.

    Conclusions:

    • AATD is a prevalent genetic condition associated with premature lung and liver disease.
    • Consideration of AATD diagnosis facilitates earlier initiation of AAT augmentation therapy.
    • This intervention can help mitigate the progression of lung disease in affected patients.