CHAPTER 42 Acute and Chronic Hepatitis 433 individuals who are heterozygous for both C282Y and the H63D muta- the deficiency variants are PiS (50% to 60%) and PiZ (10% to 20%). tion may also develop iron overload. Iron overload is very uncommon The most...
More
CHAPTER 42 Acute and Chronic Hepatitis 433 individuals who are heterozygous for both C282Y and the H63D muta- the deficiency variants are PiS (50% to 60%) and PiZ (10% to 20%). tion may also develop iron overload. Iron overload is very uncommon The most common carrier phenotypes are PiMS and PiMZ, and the among those who are homozygous for the H63D mutation. Genetic disease phenotypes are PiZZ, PiSS, and PiSZ. Low serum AAT and dia- mutations in a number of other proteins involved in iron sensing have stase-positive staining of hepatocellular AAT inclusions on liver biopsy also been associated with iron overload but are not routinely tested in support the diagnosis. Phenotypic testing in the serum has been the clinical practice. traditional gold standard for the diagnosis. However, genotypic testing Hemochromatosis is a systemic disease that causes iron deposition is now available and widely used. Lung disease results from a loss of in parenchymal cells in various organs including the
Less
