Liver disease at alpha-1-antitrypsin deficiency

Česká verzia

Authors: L. Husová ¹; M. Dastych jr. ¹; E. Kunertová ²; P. Husa ³; K. Dvořák ⁴; M. Votava ⁴
Authors place of work: Interní gastroenterologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Petr Dítě, DrSc. ¹; Interní oddělení nemocnice Břeclav, přednosta prim. MUDr. Jitka Siegelová ²; Klinika infekčních chorob Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Petr Husa, CSc. ³; Patologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Jirka Mačák, CSc. ⁴
Published in the journal: Vnitř Lék 2005; 51(1): 101-105
Category: Case Reports

Summary

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.

Key words:
alpha-1-antitrypsin deficiency – chronic hepatitis – liver cirrhosis – pulmonary emphysema

Zdroje

1. Schneiderka P. Biochemické vyšetření. In: Ehrmann J et al. Icterus – diferenciální diagnostika. Praha: Grada Publishing 2003: 45–64.

2. Hauftová D, Ehrmann J. Metabolická jaterní onemocnění. In: Ehrmann J et al. Icterus – diferenciální diagnostika. Praha: Grada Publishing 2003: 179–189.

3. Eriksson, S. Alpha-1-antitrypsin deficiency. J Hepatol 1999; 30 (S1): 34–39.

4. Trunečka P. Kongenitální fibróza jater a vzácné metabolické choroby. In: Postgraduální kurs subkatedry gastroenterologie IPVZ. Sborník přednášek. Praha: Institut postgraduálního vzdělávání ve zdravotnictví 2000:157–161.

5. Sveger T, Eriksson S. The liver in adolescents with alpha-1-antitrypsin deficiency. Hepatology 1995; 2(22): 514–517.

6. Rosen HR. Alpha-1-antitrypsin deficiency and other metabolic liver diseases. In: Friedman, LS, Keeffe EB. Handbook of liver disease. London: Churchil Livingstone 1998: 255–265.

7. De Tommaso AM, Rossi CL, Escanhoela CA et al. Diagnosis of alpha-1-antitrypsin deficiency by DNA analysis of children with liver disease. Arquivos de gastroenterologia 2001; 1(38): 63–68.

8. Perthutter DH. Alpha-1-antitrypsin deficiency. Current Treatment Options in gastroenterology 2000; 3(6): 451–456.

9. Pratschke J, Steinmüller T, Bechstein WO et al. Orthotopic liver transplantation for hepatic associated metabolic disorders. Clin Transplantation 1998; 12: 228–232.

10. De Serres FJ. Worldwide racial and ethnic distribution of alpha-1-antitrypsin deficiency: Summary of and analysis of published genetic epidemiologic surveys. Chest 2002; 5(122): 1818–1829.

11. Cosme A, Ojeda E, Torrado J et al. Liver alterations due to alpha-1-antitrypsin deficiency in adults. Study of 5 patients and analysis of the cases reported in the Spanish literature. Gastroenterologia y hepatologia 2003; 4(26): 251–256.

12. Lima LC, Matte U, Leistner S et al. Molecular analysis of the Pi*Z allele in patients with liver disease. American Journal of Medical Genetics 2001; 4(104): 287–290.

13. Carrell RW, Lomas DA. Alpha-1-antitrypsin deficiency – a model for conformational diseases. N Engl J Med 2002; 1(346): 45–53.

14. Vogel W, Braunsteiner T, Dietze O et al. Pathogenesis of liver disease alpha-1-antitrypsin deficiency. Scandinavian J Gastroeterol 1990; 5(17): 100–103.

15. Eriksson S. Alpha-1-antitrypsin deficiency. J Hepatol 1999; 30: 34–39.

16. Lok ASF, Ghany MG, Gerber MA. A young woman with cirrhosis. Autoimmune hepatitis vs. alpha-1-antitrypsin deficiency. Hepatology 1994; 5(19): 1302–1306.

17. Sharp HL. Wherefore are thou liver disease associated with alpha-1-antitrypsin deficiency? Editorial. Hepatology 1995; 2(22): 666–667.

18. Leonis MA, Balisteri WF. Inherited metabolic disorders of the liver. In: Feldman M, Friedman LS, Sleisenger MH et al. Fordtran’s Gastrointestinal and liver disease: pathophysiology, diagnosis, management. II. 7th ed. Philadelphia: Saunders 2002: 1240–1277.

19. Mrskoš A, Kozák L, Pospíšilová J et al. Alpha-1-antitrypsin deficiency: Simple, inexpensive newborn mass screening method. Klin Biochem Metab 2002; 4(10): 191–194.