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Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency

Dekel Avital1, Eli Hershkovitz2,3, Neta Loewenthal1,4,5

  • 1Pediatric Division, Soroka Medical Center, Beer-Sheva, Israel.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|May 12, 2018
PubMed

Insights

Carbonic anhydrase 12 deficiency causes salt wasting and dehydration. Adolescents with this rare condition can develop severe rhabdomyolysis from exercise in hot weather.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carbonic anhydrase 12 (CA12) deficiency is a rare autosomal recessive disorder.
  • Characterized by isolated salt wasting in sweat, leading to infantile hyponatremic dehydration and poor weight gain.

Observation:

  • Two adolescents with diagnosed CA12 deficiency experienced severe rhabdomyolysis.
  • This occurred after physical activity in a hot climate.

Findings:

  • CA12 deficiency can lead to severe rhabdomyolysis, a previously unreported complication.
  • Highlights the ongoing risk of excessive salt loss through sweat.

Implications:

  • Patients require increased salt intake and avoidance of strenuous exercise in heat.
  • Emphasizes the need for specific precautions in managing CA12 deficiency.
Abstract

Keywords:
carbonic anhydrase 12 deficiencyexercise associated hyponatremiarhabdomyolysis

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