Related Experiment Video

Updated: Aug 4, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis

M Odièvre, J P Martin, M Hadchouel

    Pediatrics
    |February 1, 1976
    PubMed

    Insights

    Alpha-1 antitrypsin deficiency in children can cause liver disease, presenting as cholestasis. While some symptoms may resolve, long-term liver issues and variability in outcomes are common in this inherited disorder.

    Area of Science:

    • Pediatric Hepatology
    • Genetic Liver Diseases
    • Internal Medicine

    Background:

    • Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder that can affect the liver and lungs.
    • The ZZ phenotype is associated with severe AATD and liver disease in children.
    • Intermediate AATD phenotypes (MZ, MS, SZ) are less commonly studied in relation to liver disease.

    Purpose of the Study:

    • To investigate the clinical manifestations and outcomes of alpha-1 antitrypsin deficiency in children with liver disease.
    • To characterize the spectrum of liver disease associated with different AATD phenotypes.
    • To identify potential diagnostic markers for AATD-related liver disease.

    Main Methods:

    • Retrospective analysis of 424 children with liver disease.
    • Genetic screening for alpha-1 antitrypsin deficiency phenotypes (ZZ, MZ, MS, SZ).
    • Clinical and laboratory assessment of liver function, including histopathology (PAS staining).

    Main Results:

    • Twenty children had AATD, with 19 exhibiting the ZZ phenotype presenting as neonatal cholestasis.
    • While jaundice and pruritus resolved in most ZZ phenotype cases by 7 months, hepatomegaly and mild dysfunction persisted.
    • Eight ZZ phenotype patients developed or were suspected of having biliary cirrhosis and portal hypertension; four had intrahepatic bile duct hypoplasia.
    • PAS-positive granules in liver tissue were specific to the ZZ phenotype.
    • Sixteen children with intermediate AATD phenotypes (MZ, MS, SZ) showed various liver diseases without PAS-positive granules.

    Conclusions:

    • Alpha-1 antitrypsin deficiency, particularly the ZZ phenotype, is a significant cause of inherited liver disease in children, with variable clinical presentations and prognoses.
    • Neonatal cholestasis is a common initial manifestation, but long-term hepatic dysfunction and complications like cirrhosis can occur.
    • Intermediate AATD phenotypes are less clearly associated with severe liver disease, and PAS-positive granules appear to be a distinguishing feature of the ZZ phenotype.

    More Related Videos

    A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia09:12

    A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia

    Published on: February 3, 2023

    Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis05:56

    Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

    Published on: August 29, 2025

    Related Concept Videos

    Lysosomal Hydrolases01:22

    Lysosomal Hydrolases

    Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
    Cystic Fibrosis: Pathogenesis01:23

    Cystic Fibrosis: Pathogenesis

    Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
    CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
    Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

    Pharmacokinetics in Pediatric Patients: Drug Metabolism

    In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
    Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

    Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

    In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess the...
    Type I Diabetes I: Introduction01:12

    Type I Diabetes I: Introduction

    Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
    Chronic Obstructive Pulmonary Disease II: Emphysema01:23

    Chronic Obstructive Pulmonary Disease II: Emphysema

    Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.