Javed Asma, Leonard Jennifer M, Cramer Carl, Kumar Seema, Kirmani Salman, Brands Chad K
Mayo Clinic, Pediatric Endocrinology, Rochester, MN 55905, USA.
J Pediatr Endocrinol Metab. 2013;26(3-4):393-5. doi: 10.1515/jpem-2012-0334.
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.
1型假性醛固酮减少症（PHA - 1）是一种由外周对醛固酮抵抗引起的罕见失盐综合征。在此，我们描述了常染色体显性遗传的PHA - 1的一种不寻常表现，除了已被充分描述的低钠血症、高钾血症和生长发育不良外，还包括出生时双侧气胸、婴儿期血小板增多症和高钙血症。这些发现丰富了PHA - 1有限的病例描述，并可能为表现为高钾血症、低钠血症和生长发育不良的新生儿提示额外的诊断思路。
