Alpha 1 - anti-trypsin deficiency - a rare case of hepatic cirrhosis in an adult
Keywords:
alphal-antitrypsin deficiency, hepatic cirrhosis, hepatic biopsyAbstract
The authors present a rare clinical case report of liver cirrhosis in an adult patient with alphal are: PiSS, PiZZ, PiSZ and PiMZ. The patient presented the phenotype PiMF.
Recent data supports a new perspective of this disease: the incorrect folding of the protein leads to its accumulation in the rough endoplasmic reticulum of the hepatocyte and consequently damages it.
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References
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