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[Alpha-1 antitrypsin deficiency in infancy and childhood]
M Santos Tapia1, M Sánchez Mateos, M Gimeno Aranguez
1Unidad de Gastroenterología, Hospital Niño Jesús, Madrid.
Insights
Alpha 1 antitrypsin deficiency (AATD) in children primarily presents as liver disease, unlike in adults where lung disease is more common. This study details five pediatric cases of AATD, all exhibiting significant liver manifestations.
Area of Science:
- Pediatric Hepatology
- Genetic Disorders
- Pulmonology
Background:
- Alpha 1 antitrypsin deficiency (AATD) is an inherited disorder that can lead to lung and liver disease.
- While adult AATD predominantly affects the lungs, pediatric manifestations are often liver-centric.
Observation:
- This study reviewed five pediatric patients (15 months to 8 years) diagnosed with AATD.
- Three males and two females were included, with four presenting the PI ZZ phenotype and one the PI SZ phenotype.
- All pediatric cases exhibited significant liver disease, including neonatal cholestasis, cirrhosis, and hepatitis.
Findings:
- Pediatric AATD cases predominantly manifest with severe liver disease.
- Clinical presentation differs significantly between pediatric and adult populations with AATD.
- Specific genotypes (PI ZZ and PI SZ) were observed in the studied pediatric cohort.
Implications:
- Highlights the critical need for early diagnosis of AATD in children presenting with liver issues.
- Emphasizes the distinct clinical spectrum of AATD in pediatric versus adult populations.
- Informs pediatricians and hepatologists about the liver-focused presentation of AATD in early life.
Abstract:
We present our experience with 5 pediatric patients, 3 males and 2 females, with alpha 1 antitrypsin deficiency. These patients were between the ages of 15 months and 8 years and 4 were of the PI ZZ phenotype and 1 of the PI SZ phenotype. All cases presented with liver disease (neonatal cholestasis, cirrhosis, hepatitis). We comment on the different clinical forms of this entity during childhood, most of which are liver diseases, whereas in the adult it is generally manifest as lung disease.