| Autor: |
S, Skoda-Smith, E, Mroczek-Musulman, C, Galliani, T P, Atkinson, R G, Watts |
| Rok vydání: |
1997 |
| Předmět: |
|
| Zdroj: |
Archives of pathologylaboratory medicine. 121(9) |
| ISSN: |
0003-9985 |
| Popis: |
An 18-month-old white male infant with X-linked lymphoproliferative disease was evaluated for persistent hepatic dysfunction following primary Epstein-Barr virus infection. A liver biopsy revealed cirrhosis with a dense mononuclear cell infiltrate. These findings were confounding because cirrhosis is not a typical finding in either normal or immunodeficient individuals following infection with Epstein-Barr virus. An alpha 1-antitrypsin level obtained shortly after biopsy was spuriously within the lower limits of the physiologic range. Further investigation demonstrated a homozygous Z phenotype, the classic protease inhibitor variant described in alpha 1-antitrypsin deficiency. A repeat liver biopsy confirmed the presence of a second hereditary disease. This is a unique concurrence of two uncommon genetic disorders. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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