Etiology & Pathophys
The inheritance pattern of AATD.
What is Autosomal Recessive?
Panacinar emphysema predominantly affects this region of the lung.
What are the lower lobes?
In AATD, liver biopsy is rarely needed, but when done, PAS-positive diastase-resistant globules are most commonly found in this cell type.
What are periportal hepatocytes?
Weekly intravenous infusion of purified AAT is known as this therapy.
What is augmentation therapy?
A deficiency of alpha-1 antitrypsin leads to alveolar damage through this type of enzyme.
What is (neutrophil) elastase?
Neonatal cholestasis in AATD is caused by this mechanism.
What is hepatocyte accumulation of misfolded protein?
In addition to pulmonary disease, screening is advised for patients with unexplained elevations in this lab value.
What are liver transaminases (ALT/AST)?
This class of medications may be used for symptom relief but does not correct the underlying deficiency.
What are bronchodilators?
Smoking accelerates alveolar damage in AATD primarily because it oxidizes this crucial residue in AAT.
What is methionine 358?
Long-standing AATD lung disease can lead to this type of heart strain, due to chronic low oxygen levels.
What is cor pulmonale (right-sided heart failure)?
Null alleles produce almost no circulating AAT; these patients may have normal liver enzyme tests but are at very high risk for this pulmonary complication.
What is early-onset panacinar emphysema?
Gene therapy approaches for AATD aim to deliver functional SERPINA1 to hepatocytes or other cells to restore this.
What is production of functional alpha-1 antitrypsin protein?