Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4142308 | Anales de Pediatría | 2010 | 4 Pages |
Abstract
Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy. Aldosterone synthase deficiency due to mutations in CYP11B2 is the underlying cause in most cases. Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date. We report a male child with congenital hypoaldosteronism due to a homozygous missense mutation (Thr318Met) in CYP11B2 who also presented with unexplained sensorineural hearing loss.
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Authors
O. Rubio-Cabezas, L. Regueras, M.T. Muñoz-Calvo, M. Bartolomé, J. Pozo, J. Argente,