Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency.

Journal of Pediatric Endocrinology & Metabolism : JPEM
Dekel AvitalNeta Loewenthal

Abstract

Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy. We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate. This presentation highlights a previously unreported but significant clinical complication of this disorder and emphasizes the persistent risk of excessive salt loss via sweat and a need for certain precautions, such as increased salt intake and avoidance of prolonged and/or strenuous exercise.

References

Mar 19, 2005·Critical Care : the Official Journal of the Critical Care Forum·Ana L Huerta-AlardínPaul E Marik
Feb 6, 2010·The Journal of Pediatrics·UNKNOWN Cystic Fibrosis FoundationFrank J Accurso
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Apr 25, 2015·Revista Brasileira de terapia intensiva·Diana Tavares AguiarPaula Coutinho
Jun 27, 2015·Journal of the International Society of Sports Nutrition·Daniela ChlíbkováTomáš Uher

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Citations

Jul 11, 2019·Praxis·Beat KnechtlePantelis T Nikolaidis
Jul 28, 2018·BioMed Research International·Maciej JakubowskiAdrian Doroszko

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