Neonatal systemic pseudohypoaldosteronism type I / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 774-778, 2023.
Article
in Zh
| WPRIM
| ID: wpr-982026
Responsible library:
WPRO
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
Full text:
1
Database:
WPRIM
Main subject:
Pseudohypoaldosteronism
/
Diagnosis, Differential
/
Hyperkalemia
/
Hyponatremia
Limits:
Humans
/
Infant
/
Male
/
Newborn
Language:
Zh
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2023
Document type:
Article