Alpha 1-antitrypsin deficiency in a child with X-linked lymphoproliferative disease.

Abstract

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.

• Authors: S Skoda-Smith, E Mroczek-Musulman, C Galliani, T P Atkinson, R G Watts
• Journal: Archives of pathology & laboratory medicine (Arch Pathol Lab Med) Vol. 121 Issue 9 Pg. 996-9 (Sep 1997) ISSN: 0003-9985 [Print] United States
• PMID: 9302936 (Publication Type: Case Reports, Journal Article)

Chemical References

• Serine Proteinase Inhibitors
• alpha 1-Antitrypsin

Topics

• Genetic Linkage
• Humans
• Infant
• Liver (enzymology, pathology)
• Liver Cirrhosis (enzymology, etiology, pathology)
• Lymphoproliferative Disorders (complications, enzymology, genetics)
• Male
• Pedigree
• Serine Proteinase Inhibitors (deficiency, genetics)
• X Chromosome
• alpha 1-Antitrypsin (genetics)
• alpha 1-Antitrypsin Deficiency