首页> 外文期刊>Journal of pediatric endocrinology & metabolism: JPEM >Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.
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Pseudohypoaldosteronism presenting with thrombocytosis and bilateral pneumothoraces in an infant.

机译:假性低醛固酮增多症伴婴儿的血小板增多症和双侧气胸病。

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摘要

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.
机译:摘要伪性低醛固酮增多症1型(PHA-1)是一种罕见的食盐综合征,由对醛固酮的外周抵抗引起。在这里,我们描述了常染色体显性PHA-1的异常表现,包括出生时的双侧气胸,婴儿期的血小板增多和高钙血症,以及对血钠过低,高钾血症和无法存活的良好描述。这些发现有助于对PHA-1进行有限的病例描述,并可能建议对高钾血症,低钠血症和不能存活的新生儿进行更多诊断。

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