Vnitr Lek 2005, 51(1):101-105

Liver disease at alpha-1-antitrypsin deficiency

L. Husová^1,*, M. Dastych jr.¹, E. Kunertová², P. Husa³, K. Dvořák⁴, M. Votava⁴

¹ Interní gastroenterologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Petr Dítě, DrSc.

² Interní oddělení nemocnice Břeclav, přednosta prim. MUDr. Jitka Siegelová

³ Klinika infekčních chorob Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Petr Husa, CSc.

⁴ Patologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Jirka Mačák, CSc.

Alpha-1-antitrypsin deficiency is a hereditary disease. Most often it affects lungs and liver. It can manifest itself as cholestasis in the newborn period or later as chronic hepatitis, liver cirrhosis, and also pulmonary emphysema. In this article a case report of a 21-year-old woman with alpha-1-antitrypsin deficiency determined by liver tests during a viral disease with high fevers treated by antibiotics and paracetamol has been described. Histology proved no changes in liver except PAS positive granules in hepatocytes. Examinations proved alpha-1-antitrypsin deficiency and PiZZ phenotype in the patient. Her medical history revealed asthma bronchiale present since her child's age. Following examination of her family's medical history revealed alpha-1-antitrypsin deficiency in her mother and her sister, PiMZ phenotype. However, neither one of them suffered from liver or pulmonary disease.

Keywords: alpha-1-antitrypsin deficiency; chronic hepatitis; liver cirrhosis; pulmonary emphysema

Received: January 15, 2004; Accepted: March 23, 2004; Published: January 1, 2005  Show citation