Surfactant metabolism dysfunction
Surfactant Metabolism Dysfunction
Surfactant Metabolism Dysfunction (pronunciation: sur-FAK-tant meh-tuh-BOWL-izm dis-FUNK-shun) is a rare, genetic lung disorder that affects the body's ability to produce and process surfactant, a substance that helps keep the lungs inflated and facilitates breathing.
Etymology
The term "Surfactant Metabolism Dysfunction" is derived from the words "surfactant" (from surface-active agent), "metabolism" (from the Greek word metabole, meaning change), and "dysfunction" (from the Greek word dys, meaning bad, and the Latin word functio, meaning performance).
Definition
Surfactant Metabolism Dysfunction is characterized by the inability of the body to properly produce or process surfactant, leading to respiratory distress and other lung-related complications. This condition is typically present at birth and is often diagnosed in the neonatal period.
Symptoms
Symptoms of Surfactant Metabolism Dysfunction include respiratory distress, cyanosis, tachypnea, and interstitial lung disease.
Causes
Surfactant Metabolism Dysfunction is caused by mutations in certain genes, including the ABCA3, SFTPB, SFTPC, and SFTPD genes. These genes are responsible for the production and processing of surfactant in the lungs.
Diagnosis
Diagnosis of Surfactant Metabolism Dysfunction is typically made through genetic testing, as well as through the observation of clinical symptoms. Other diagnostic methods may include bronchoalveolar lavage and lung biopsy.
Treatment
Treatment for Surfactant Metabolism Dysfunction typically involves supportive care, such as oxygen therapy and mechanical ventilation. In severe cases, lung transplantation may be considered.
Prognosis
The prognosis for individuals with Surfactant Metabolism Dysfunction varies, depending on the severity of the condition and the individual's response to treatment.
Related Terms
- Pulmonary surfactant
- Interstitial lung disease
- Respiratory distress syndrome
- Genetic disorder
- Lung transplantation
External links
- Medical encyclopedia article on Surfactant metabolism dysfunction
- Wikipedia's article - Surfactant metabolism dysfunction
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