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Sodium chloride deficiency in cystic fibrosis patients

U Ozçelik1, A Göçmen, N Kiper

  • 1Department of Paediatric Chest Disease, Hacettepe University, Faculty of Medicine, Ankara, Turkey.

European Journal of Pediatrics
|November 1, 1994
PubMed

Insights

Cystic fibrosis (CF) patients can experience sodium chloride deficiency (SCD) in infancy, leading to severe symptoms. This deficiency may be linked to genetic mutations and insufficient salt supplementation, especially in infants with high sweat rates.

Area of Science:

  • Pediatrics
  • Genetics
  • Biochemistry

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Sodium chloride deficiency (SCD) is a potential complication in infants with CF, particularly those with high sweat rates.

Purpose of the Study:

  • To investigate the incidence, clinical presentation, and potential causes of sodium chloride deficiency in infants with cystic fibrosis.

Main Methods:

  • Retrospective analysis of 12 CF patients diagnosed with SCD within their first year.
  • Clinical data collection including symptoms, plasma and urinary electrolyte levels, and renal function tests.
  • Genotyping for CFTR mutations.

Main Results:

  • SCD occurred in 12/46 CF infants, presenting with dehydration, vomiting, and electrolyte imbalances (low plasma sodium, potassium, chloride).
  • All patients exhibited alkalosis and elevated plasma renin activity; hematuria and hypercalciuria were also noted.
  • Treatment involved intravenous fluids and electrolytes; oral salt supplementation was deemed potentially insufficient for high-sweating infants.

Conclusions:

  • Infantile SCD in CF patients is associated with significant electrolyte disturbances and potential renal complications.
  • Genetic factors, including CFTR mutations (like F508), and inadequate salt intake may contribute to SCD in these infants.
  • Close monitoring of electrolytes and appropriate salt supplementation are crucial for managing CF infants prone to excessive sweating.

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