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[Severe alpha 1-antitrypsin deficiency: clinical observations of 21 patients]
Insights
Alpha-1 antitrypsin deficiency (AATD) in phenotype Z patients presents with early-onset respiratory disease, including emphysema and cor pulmonale, or childhood liver disease, potentially progressing to cirrhosis.
Area of Science:
- Pulmonology
- Hepatology
- Genetics
Context:
- Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder.
- Phenotype Z (genotype Pi ZZ) is associated with severe AATD.
- Understanding disease progression is crucial for patient management.
Purpose:
- To describe the clinical course of disease in patients with low serum alpha-1 antitrypsin.
- To characterize the respiratory and hepatic manifestations of AATD in phenotype Z patients.
Summary:
- The study followed 21 patients with low serum alpha-1 antitrypsin (AAT) of phenotype Z.
- Thirteen adult patients exhibited early-onset respiratory symptoms (bronchitis, dyspnea) progressing to emphysema and cor pulmonale.
- Eight pediatric patients presented with neonatal jaundice, hepatomegaly, elevated liver enzymes, and in two cases, biopsy-confirmed cirrhosis.
Impact:
- Highlights the dual-organ system involvement in AATD.
- Emphasizes the importance of early diagnosis and monitoring for both respiratory and hepatic complications.
- Provides insights into the long-term prognosis of severe AATD phenotypes.
Abstract:
The disease course is described in 21 patients with low serum concentrations of alpha1-antitrypsin of the phenotype Z (genotype pi ZZ). 13 of these patients have long-standing disease characterized by bronchitis or dyspnea beginning before the age of 40 and progressing to emphysema (11 patients) and to corpulmonale (7 patients). The remaining 8 patients are children with hepatopathy characterized by prolonged jaundice at birth, persistent hepatomegaly and persistently elevated liver enzymes. In 2 children, the evolution to cirrhosis was ascertained by biopsy.