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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[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
Summary
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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