Week 1: The start of summer immersion
This week I shadowed Dr. Crystal on two patients' visiting. The first is an A1AT (Alpha-1 antitrypsin deficiency) patient. A1AT is an autosomal co-dominant disorder. It is correlated with the mutations of the SERPINA1 gene and causes pulmonary or liver malfunction. This antitrypsin protein can help prevent the body's tissues from being damaged by the enzymatic digestion of infection-fighting agents. Without the antitrypsin, the lung's protease-antiprotease balance will be disturbed, and its matrix and structure will be destroyed. This is a relatively rare disease that impacts around 100000 Americans and occurs in European descent with a large chance. The M version of the SERPINA1 gene results in a normal level of the alpha 1 antitrypsin while the S and Z alleles of the gene are detrimental. S allele produces a moderate amount of antitrypsin while the Z allele is more serious and causes a higher risk of lung/ liver diseases. The patient had severe asthma before the pandemic began. However, during the pandemic when she could spend most of the time at home and wear masks, which decrease her exposure to the pollutants in the air, she gradually recovered from getting frequent asthma. The reason is that she has a SS combination and obtains a relatively normal antitrypsin level. After some assessment, there might be no need for her to take the treatment.
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