Reynoso MMT, Gil RMG, Castro VLE, Farfán MJE

Language: Spanish
References: 9
Page: 214-217
PDF size: 196.33 Kb.

ABSTRACT

Alpha1-antitrypsin deficiency (α1-AT) is a recessive autosomal disease by disorder of chromosome 14. α1-AT is a protease inhibitor of neutrophil elastasas. Variant with M allele synthesized normal level of α1-AT, Z and S allele, deficient levels (‹35% normal level). The presentation is variable: adult emphysema, hepatic or skin disease. We report the case of a 54-year-old female patient with hiatal hernia (2006). Preoperatory laboratory tests showed high aminotransferases; so hepatic study was implemented. USG reported widespread hepatic damage and gallbladder stones. We performed cholecystectomy and hepatic biopsy. Histopathologic diagnosis was: cholestasis, duct hyperplasia, cholangitis and chronic cholecystitis with lithiasis. Patient suffered high aminotransferases persistence. Control hepatic biopsy revealed hepatic injury indicative of alpha1-antitrypsin deficiency.

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