Related Experiment Video

Updated: May 15, 2026

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia
09:12

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

Published on: February 3, 2023

Low Incidence of α-1 antitrypsin deficiency among babies with prolonged jaundice

Zahra Jowkar1, Bita Geramizadeh, Sara Fanai

  • 1Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Archives of Iranian Medicine
|January 1, 2013
PubMed

Insights

Alpha-1 antitrypsin (AAT) deficiency is rare in Iran and does not significantly cause prolonged neonatal jaundice. Genetic testing confirmed all infants had normal AAT levels, ruling out this deficiency as a common cause.

Area of Science:

  • Pediatric Hepatology
  • Medical Genetics

Background:

  • Alpha-1 antitrypsin (AAT) deficiency is a significant genetic cause of pediatric liver disease globally.
  • Its prevalence varies geographically, with low incidence reported in many Asian countries.
  • Limited data exists on AAT deficiency as a cause of prolonged neonatal jaundice in Iran.

Purpose of the Study:

  • To investigate the role of AAT deficiency in prolonged neonatal jaundice in Southern Iran.
  • To assess the incidence of AAT deficiency in neonates with cholestasis at a major pediatric referral center.

Main Methods:

  • A cohort of 126 neonates diagnosed with neonatal cholestasis was studied.
  • DNA was extracted from blood samples for genetic analysis.
  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing were employed to determine AAT genotypes.

Main Results:

  • All neonates tested were found to be genetically normal for AAT levels.
  • The genotype identified in all patients was MM homozygotes, indicating no deficiency.

Conclusions:

  • Alpha-1 antitrypsin deficiency is not a common cause of neonatal cholestasis in Iran.
  • The study suggests AAT deficiency is a rare condition within the Iranian pediatric population presenting with prolonged jaundice.
Abstract

More Related Videos

A Silver Nanoparticle Method for Ameliorating Biliary Atresia Syndrome in Mice07:48

A Silver Nanoparticle Method for Ameliorating Biliary Atresia Syndrome in Mice

Published on: October 13, 2018

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus06:15

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus

Published on: March 6, 2019

Related Concept Videos

Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
Development of Immunocompetence01:22

Development of Immunocompetence

The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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...
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Rh Blood Group01:19

Rh Blood Group

The Rhesus (Rh) antigen is crucial in determining blood groups and ensuring compatibility during blood transfusions.