新生儿多脏器型假性醛固酮减少症Ⅰ型

Neonatal systemic pseudohypoaldosteronism type I

摘要:

患儿男，生后18 d，因发现反复血钾升高10余天入院。患儿存在拒奶、呼吸困难，血气分析提示反复高钾血症、低钠血症和代谢性酸中毒，肾上腺皮质激素替代治疗无效。辅助检查提示醛固酮水平明显升高，家系全外显子组测序显示患儿存在SCNN1A基因复合杂合变异，变异来自父亲和母亲，患儿明确诊断为新生儿多脏器型假性醛固酮减少症Ⅰ型。通过给予降钾树脂和补充钠盐治疗，患儿电解质水平保持平稳，达临床痊愈出院。该文对婴儿失盐综合征的鉴别诊断进行重点描述，以及介绍新生儿多脏器型假性醛固酮减少症Ⅰ型的多学科诊疗。

Abstract:

Abstract：An 18-day-old male infant was admitted to the hospital due to recurrent hyperkalemia for more than 10 days. The neonate had milk refusal and dyspnea. The blood gas analysis revealed recurrent hyperkalemia, hyponatremia and metabolic acidosis. Adrenocortical hormone replacement therapy was ineffective. Additional tests showed a significant increase in aldosterone levels. Family whole exome sequencing revealed that the infant had compound heterozygous in the SCNNIA gene, inherited from both parents. The infant was diagnosed with neonatal systemic pseudohypoaldosteronism type I. The infant's electrolyte levels were stabilized through treatment with sodium polystyrene sulfonate and sodium supplement. The infant was discharged upon clinical recovery. This study provides a focused description of differential diagnosis of salt-losing syndrome in infants and introduces the multidisciplinary management of neonatal systemic pseudohypoaldosteronism type I.