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Article

Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency.

Hormone research in paediatrics - 1 Jan 2014

Feinstein Yael, Yerushalmi Baruch, Loewenthal Neta, Alkrinawi Soliman, Birk Ohad S, Parvari Ruti, Hershkovitz Eli

Abstract excerpt

INTRODUCTION: We identified patients of Bedouin origin with a mutation in carbonic anhydrase XII (CA XII) leading to hyponatremia due to excessive salt loss via sweat. METHODS: The medical records of patients were reviewed for clinical and laboratory data. RESULTS: A total of 11 subjects were identified; 7 symptomatic patients presented with hyponatremic dehydration in infancy. Screening of the entire kindred...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Metabolism, Inborn Errors

Share to Sodium Chloride, Dietary

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Identifiers

PMID: 24714577
DOI: 10.1159/000358327

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