[Neonatal systemic pseudohypoaldosteronism type I].
新生儿多脏器型假性醛固酮减少症Ⅰ型.
Hyperkalemia
Hyponatremia
Neonate
Pseudohypoaldosteronism
Journal
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
ISSN: 1008-8830
Titre abrégé: Zhongguo Dang Dai Er Ke Za Zhi
Pays: China
ID NLM: 100909956
Informations de publication
Date de publication:
15 Jul 2023
15 Jul 2023
Historique:
medline:
3
8
2023
pubmed:
2
8
2023
entrez:
2
8
2023
Statut:
ppublish
Résumé
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 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
Autres résumés
Type: Publisher
(chi)
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
Identifiants
pubmed: 37529962
pii: 1008-8830(2023)07-0774-05
doi: 10.7499/j.issn.1008-8830.2305011
pmc: PMC10414165
pii:
doi:
Types de publication
English Abstract
Journal Article
Langues
chi
Sous-ensembles de citation
IM
Pagination
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