Neonatal systemic pseudohypoaldosteronism type I

CAO Xin-Cheng; CHEN Yuan-Yuan; ZHANG Ke; ZHANG Xun-Jie; YANG Lin; LI Zhi-Hua

doi:10.7499/j.issn.1008-8830.2305011

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Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (7) : 774-778. DOI: 10.7499/j.issn.1008-8830.2305011

COLUMN ON DIAGNOSIS & TREATMENT IN MDT MODE

Neonatal systemic pseudohypoaldosteronism type I

CAO Xin-Cheng, CHEN Yuan-Yuan, ZHANG Ke, ZHANG Xun-Jie, YANG Lin, LI Zhi-Hua

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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.

Key words

Pseudohypoaldosteronism / Hyperkalemia / Hyponatremia / Neonate

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CAO Xin-Cheng, CHEN Yuan-Yuan, ZHANG Ke, ZHANG Xun-Jie, YANG Lin, LI Zhi-Hua. Neonatal systemic pseudohypoaldosteronism type I[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(7): 774-778 https://doi.org/10.7499/j.issn.1008-8830.2305011

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