Netherton综合征1例并文献复习

A Case of Netherton Syndrome and Literature Review

目的分析中国籍Netherton综合征患者临床特征和基因突变情况。方法对本院收集的1例Netherton综合征患者诊疗经过进行回顾性分析,确定致病基因变异。检索Pubmed、中国知网和万方医学网中的文献,对文献中中国籍Netherton综合征患者的病例特点进行总结。结果本院报告患儿出生后起病,全身皮肤即出现干燥、红斑、脱屑,口周、眼周皮纹加深,呈放射状。毛发异常,伴有暂时性生长迟缓。DNA测序检测,证实患者5号染色体上SPINK基因复合杂合突变:c.2260A>T(p.K754*)和c.2423C>T(p.T808I),确诊为Netherton综合征。1982年1月-2019年12月,国内外文献累计报告中国籍Netherton综合征患者23例,加上本研究1例共24例,其主要表现为红皮病样皮损、竹节样发、生长迟缓、特应性体质,实验室检查常见血嗜酸性粒细胞、IgE升高,基因检查提示SPINK5基因变异。结论Netherton综合征是一种少见、易被误诊的遗传相关性疾病,其临床表现和实验室检查有一定的特点,结合基因检测可大大提高检出率,利于早期诊断和产前遗传咨询。

Objective To analyze the clinical characteristics and gene mutation of Chinese patients with Netherton syndrome.Methods The diagnosis and treatment of one child with Netherton syndrome was analyzed,and the pathogenic gene variation was determined.The cases of Chinese patients with Netherton syndrome reported in the literature were summarized.Results We reported a child of Han nationality with diffuse erythemas and scales and dry skin since birth.The dermatoglyphics around the mouth and eyes deepened and radiated.The patient was accompanied by hair abnormality and growth retardation.DNA sequencing showed a compound heterozygous mutation of SPINK gene on chromosome 5 which were c.2260A>T(p.K754*)and c.2423C>T(p.T808I),the patient was consistent with the diagnosis of Netherton syndrome.From January 1982 to December 2019,a total of 23 Chinese patients with Netherton syndrome have been reported in the literature,and a total of 24 patients are included in this study.The main manifestations for this disease were erythroderma,bamboo hair,growth retardation and atopic physique.Blood eosinophils and IgE usually increased,and genetic examination revealed SPINK5 gene mutation.Conclusion Netherton syndrome is a rare and easily misdiagnosed genetic related disease with some certain features for clinical manifestation and laboratory examination.Combined with gene detection,accurate diagnosis rate have been greatly improved,which is beneficial to early diagnosis and prenatal genetic counseling.