Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene

Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)
O Rubio-CabezasJ Argente

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.

References

May 12, 2004·Molecular and Cellular Endocrinology·Perrin C White
May 3, 2006·Clinical Genetics·M B Petersen, P J Willems
Dec 14, 2006·The Journal of Clinical Endocrinology and Metabolism·A A Verrijn StuartJ L Jameson

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