Related Experiment Video

Updated: Jul 28, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

Cystic fibrosis in a child from Syria

A Abdul Wahab1, I A Janahi, S Hebi

  • 1Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar. atiqa@qatar.net.qa

Annals of Tropical Paediatrics
|April 3, 2002
PubMed

Insights

This study reports a Syrian child with severe cystic fibrosis (CF), confirmed by genetic testing. It highlights the importance of considering CF in Arab populations and reviews the delta F508 mutation

Area of Science:

  • Genetics
  • Pediatrics
  • Respiratory Medicine

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • The delta F508 mutation is the most common CF-causing mutation globally.
  • Awareness of CF in Middle Eastern populations is limited.

Observation:

  • A Syrian child presented with severe cystic fibrosis phenotype.
  • The child exhibited a positive sweat test, a key diagnostic indicator for CF.
  • Genetic analysis revealed homozygosity for the delta F508 mutation.

Findings:

  • The case confirms the presence of severe cystic fibrosis in a Syrian child.
  • Homozygosity for the delta F508 mutation was identified, consistent with typical CF genetics.
  • The study underscores the relevance of CF in Arab populations.

Implications:

  • Increased clinical suspicion for cystic fibrosis is warranted in Arab children presenting with relevant symptoms.
  • Further research into the prevalence and distribution of CF mutations, particularly delta F508, in the Middle East is needed.
  • This case contributes to understanding the genetic landscape of CF in diverse ethnic groups.

More Related Videos

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression08:58

Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression

Published on: April 18, 2025

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

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...
Chest Physiotherapy01:24

Chest Physiotherapy

Chest Physiotherapy (CPT) is a therapeutic technique used in respiratory care to improve ventilation, clear bronchial secretions, and enhance the efficiency of respiratory muscles. This therapy includes three primary procedures: postural drainage, percussion, and vibration. It can be performed on spontaneously breathing patients and those who are intubated and mechanically ventilated.
Purpose
CPT is primarily used for patients with excessive bronchial secretions who have difficulty clearing...
Giardiasis01:12

Giardiasis

Giardiasis is a globally prevalent intestinal infection caused by the protozoan parasite Giardia duodenalis (also known as G. lamblia or G. intestinalis). This flagellated protozoan is the most frequently identified intestinal parasite in the United States and worldwide. Transmission primarily occurs via the fecal-oral route, with infection arising from ingestion of water or food contaminated with cysts. Individuals in low-resource settings, international travelers, outdoor enthusiasts, daycare...