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Mineralocorticoid Receptor Mutations and a Severe Recessive Pseudohypoaldosteronism Type 1

9 Sept 2011

Abstract excerpt

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease of mineralocorticoid resistance characterized by salt wasting and failure to thrive in infancy. Here we describe the first case of a newborn with severe recessive PHA1 caused by two heterozygous mutations in NR3C2, gene coding for the mineralocorticoid receptor (MR). Independent segregation of the mutations occurred in the family, with p.Ser166X...

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PMID: 21903996
DOI: 10.1681/asn.2011030245

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