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- W2000357885 abstract "Pseudohypoaldosteronism type 1 (PHA-1) is a rare salt-wasting syndrome caused by a peripheral resistance to aldosterone. Here, we describe an unusual presentation of the autosomal dominant PHA-1 featuring bilateral pneumothoraces at birth, thrombocytosis in infancy, and hypercalcemia in addition to the well-described findings of hyponatremia, hyperkalemia, and failure to thrive. These findings contribute to the limited case descriptions of PHA-1 and may suggest additional diagnostic considerations in a neonate presenting with hyperkalemia, hyponatremia, and failure to thrive." @default.
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- W2000357885 date "2013-01-01" @default.
- W2000357885 modified "2023-10-18" @default.
- W2000357885 title "Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant" @default.
- W2000357885 doi "https://doi.org/10.1515/jpem-2012-0334" @default.
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