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Updated: Jun 14, 2026
11:27
A Modified Sonographic Algorithm for Image Acquisition in Life-Threatening Emergencies in the Critically Ill Newborn
Published on: April 7, 2023
[Two infants with bleeding caused by alpha-1-antitrypsin deficiency]
M Suzanne Gordijn1, C M Frank Kneepkens
1VU medisch centrum, afd. kindergeneeskunde, Amsterdam, The Netherlands.
Nederlands Tijdschrift Voor Geneeskunde
|April 2, 2010
Summary
Alpha-1-antitrypsin deficiency (AATD) is a common genetic cause of neonatal cholestasis. Early diagnosis through PI phenotyping is crucial for managing liver disease and preventing complications like intracerebral bleeding.
Area of Science:
- Genetics
- Pediatrics
- Hepatology
Background:
- Neonatal cholestasis syndrome requires prompt diagnosis to identify treatable causes.
- Alpha-1-antitrypsin deficiency (AATD) is a prevalent inherited disorder.
- AATD is the leading genetic cause of neonatal cholestasis.
Observation:
- Two infants presented with neonatal cholestasis and vitamin K deficiency-induced bleeding, including intracerebral hemorrhage.
- Diagnosis of AATD was confirmed via proteinase inhibitor (PI) phenotyping using isoelectric focusing.
Findings:
- AATD was identified as the underlying cause in infants with neonatal cholestasis and bleeding complications.
- This autosomal recessive disorder is also linked to adult pulmonary emphysema.
Implications:
- Early identification of AATD is critical for managing neonatal cholestasis.
- Liver transplantation may be required for patients with progressive liver disease.
- Understanding AATD's role in neonatal liver disease aids in timely intervention.
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