中国当代儿科杂志2024，Vol.26Issue(1)：103-106,4.DOI:10.7499/j.issn.1008-8830.2307056
新生儿Netherton综合征1例
A case of neonatal Netherton syndrome
朱燕 1蒋思远 1张蓉 1曹云 1张淑莲1
作者信息
- 1. 国家儿童医学中心/复旦大学附属儿科医院新生儿科,上海 201102
- 折叠
摘要
Abstract
A male infant,aged 6 days,was admitted to the hospital due to respiratory distress and systemic desquamative rash after birth.The infant presented with erythema and desquamative rash,respiratory failure,recurrent infections,chronic diarrhea,hypernatremic dehydration,and growth retardation.Comprehensive treatment,including anti-infection therapy,intravenous immunoglobulin administration,and skin care,resulted in improvement of the rash,but recurrent infections persisted.Second-generation sequencing revealed a homozygous mutation in the SPINK5 gene,consistent with the pathogenic variation of Netherton syndrome.The family opted for palliative care,and the infant died at the age of 2 months after discharge.This report documents a case of Netherton syndrome caused by the SPINK5 gene mutation in the neonatal period,and highlights multidisciplinary diagnosis and therapy for this condition.关键词
Netherton综合征/SPINK5基因/皮疹/反复感染/高渗性脱水/新生儿Key words
Netherton syndrome/SPINK5 gene/Rash/Recurrent infection/Hypertonic dehydration/Neonate引用本文复制引用
朱燕,蒋思远,张蓉,曹云,张淑莲..新生儿Netherton综合征1例[J].中国当代儿科杂志,2024,26(1):103-106,4.
