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Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K

A Abdul Wahab1, I A Janahi, M M Marafia

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

Journal of Tropical Pediatrics
|September 11, 2004
PubMed

Insights

Cystic fibrosis (CF) should be considered in the Arab world, as demonstrated by an Egyptian infant with the N1303K mutation presenting with alkalosis and pancreas insufficiency. This highlights the importance of recognizing CFTR mutations in diverse populations.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene.
  • The N1303K mutation in exon 21 is a common CFTR mutation.
  • Genetic screening for CFTR mutations is crucial for early diagnosis and management.

Observation:

  • An Egyptian infant presented with clinical manifestations including alkalosis, electrolyte disturbance, and pancreas insufficiency.
  • The infant was found to have the N1303K mutation in the CFTR gene.
  • This case underscores the presence of CF in the Arab world.

Findings:

  • The N1303K CFTR mutation can lead to significant clinical symptoms in infants.
  • The study reviews the frequency and distribution of the N1303K mutation in the Middle East.
  • Early identification of CFTR mutations is vital for affected infants.

Implications:

  • There is a need to increase awareness and diagnostic capabilities for cystic fibrosis in the Arab world.
  • Understanding the prevalence of specific CFTR mutations like N1303K in different regions is essential for genetic counseling and targeted therapies.
  • This case contributes to the broader understanding of CFTR mutation impact across diverse ethnicities and geographic locations.

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