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[Alpha-1 antitrypsin deficiency. A diagnostic approach and case report]

E Mazzoleni1, G Munafò, E Pelizzari

  • 1Day-Hospital di Pediatria, USSL 35, Ospedale Civile di Palazzolo s/o, (Bresica).

Minerva Pediatrica
|January 1, 1995
PubMed

Insights

Alpha 1-antitrypsin deficiency (AATD) can cause liver and lung disease. This study identified an asymptomatic PiZZ phenotype AATD case through incidental lab findings.

Area of Science:

  • Genetics
  • Hepatology
  • Pulmonology

Background:

  • Alpha 1-antitrypsin deficiency (AATD) is a genetic disorder.
  • PiZ and PiZZ phenotypes are associated with liver and lung diseases.
  • Early diagnosis is crucial for managing AATD complications.

Observation:

  • The study presents a case of PiZZ phenotype AATD.
  • The patient was asymptomatic.
  • Diagnosis was incidental, prompted by abnormal lab results.

Findings:

  • Altered transaminase and alpha 1-globulin levels were key diagnostic indicators.
  • Genetic and clinical data supported the diagnosis.
  • This highlights the potential for identifying AATD in unexpected ways.

Implications:

  • Suggests routine screening for AATD may be beneficial in specific contexts.
  • Underscores the importance of investigating abnormal liver function tests.
  • Highlights the variable clinical presentation of AATD, even in severe genotypes.

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