新生儿Netherton综合征1例  

A case of neonatal Netherton syndrome

作　　者：朱燕 蒋思远 张蓉 曹云 张淑莲 ZHU Yan;JIANG Si-Yuan;ZHANG Rong;CAO Yun;ZHANG Shu-Lian(Department of Neonatology,Children′s Hospital of Fudan University/National Children′s Medical Center,Shanghai 201102,China)

机构地区：[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

出　　处：《中国当代儿科杂志》2024年第1期103-106,共4页Chinese Journal of Contemporary Pediatrics

摘　　要：患儿,男,6 d,因生后呼吸困难伴全身脱屑样皮疹入院。患儿主要表现为生后红斑伴脱屑样皮疹、呼吸衰竭、反复感染、慢性腹泻、高渗性脱水、生长发育迟缓,予抗感染、静脉注射免疫球蛋白、皮肤护理等综合治疗后皮疹好转,但仍存在反复感染。二代测序检测示患儿存在SPINK5基因纯合变异,系Netherton综合征的致病变异。家属放弃治疗,患儿出院后于2月龄时死亡。该文报道1例新生儿期起病的SPINK5基因变异所致的Netherton综合征病例,以及对该疾病的多学科诊疗。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 

分 类 号：R722.1[医药卫生—儿科]