Hereditary alpha-1-antitrypsin (α1-AT) deficiency predisposes to pulmonary emphysema. The objective of this study is to demonstrate the limitations of some laboratory methods used in the study of the deficiency, and which may produce errors in interpretation and detection of uncommon alleles. Two clinical cases are described: the index patient, who had pulmonary emphysema with α1-AT levels less than 12 mg/dL, was erroneously classified as a homozygote of the normal allelic variant PI MM using a rapid genotype method; the mother of the patient, asymptomatic, with low levels (60 mg/dL), was also classified as PI MM.
View Article and Find Full Text PDFHepatopulmonary syndrome consists of a clinical triad: arterial blood deoxygenation, intrapulmonary vasodilation, and liver disease. Both acute and chronic cases of this syndrome have been reported, and the most common cause is cirrhosis. The principle disease mechanism is dilation of the pulmonary blood vessels causing alterations in gas exchange.
View Article and Find Full Text PDF