Related Experiment Video
Updated: Aug 5, 2026
07:13
Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
Published on: January 6, 2015
Alpha-1-antitrypsin deficiency in childhood
Current Problems in Pediatrics
|November 1, 1980
Summary
Alpha-1 antitrypsin (alpha 1AT) deficiency increases children's risk of liver injury and adults' risk of emphysema. Genetic testing can identify susceptible individuals for counseling on environmental toxins.
Area of Science:
- Genetics
- Pulmonology
- Hepatology
Background:
- Alpha-1 antitrypsin (alpha 1AT) deficiency is an inherited disorder with codominant inheritance.
- This deficiency predisposes individuals to liver disease in childhood and emphysema in adulthood.
Observation:
- Pi typing is a reliable method for identifying individuals with alpha 1AT deficiency.
- Amniocentesis is currently not a proven diagnostic technique for detecting homozygous deficiency in utero.
- Predicting the clinical course of homozygous alpha 1AT deficiency is not yet possible, posing challenges for family counseling.
Findings:
- Pi typing can identify susceptible individuals who benefit from counseling on avoiding environmental toxins like smoking and alcohol.
- Liver biopsy may offer prognostic information but is not essential for diagnosis.
- Infants with cholestasis should be evaluated for alpha 1AT deficiency before surgical exploration for bile duct lesions.
Implications:
- Early identification of alpha 1AT deficiency through Pi typing enables targeted counseling and preventative strategies.
- Routine evaluation for alpha 1AT deficiency in infants with cholestasis can prevent unnecessary surgical interventions.
- Further research is needed to develop effective therapies for the underlying defect of alpha 1AT deficiency.
Related Concept Videos
01:05Breathing
The process of breathing, inhaling and exhaling, involves the coordinated movement of the chest wall, the lungs, and the muscles that move them. Two muscle groups with important roles in breathing are the diaphragm, located directly below the lungs, and the intercostal muscles, which lie between the ribs. When the diaphragm contracts, it moves downward, increasing the volume of the thoracic cavity and creating more room for the lungs to expand. When the intercostal muscles contract, the ribs...
01:23Cystic 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...
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...
01:24Cystic Fibrosis: Management
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Sinus disease and chronic sinusitis...
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...
01:23Chronic 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...
01:23Chronic 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.