摘要
目的:探讨新生儿非酮症性高甘氨酸血症(nonketotic hyperglycinemia,NKH)的临床表型和基因型特点。方法:对苏州大学附属儿童医院收治的1例重症NKH患儿临床资料进行回顾性分析。并以“甘氨酸裂解酶”、“甘氨酸脱羧酶”、“非酮症性高甘氨酸血症”、“甘氨酸脑病”为关键词,检索中国知网、维普数据库、万方数据库和中华医学期刊全文数据库,以“glycine cleavage enzyme”、“glycine decarboxylase”、“nonketotic hyperglycinemia”、“glycine encephalopathy”为关键词检索生物医学文献数据库、web of science数据库和Embase数据库,检索时间自建库至2022年12月31日。总结新生儿NKH的临床表型和基因型特点。结果:本例患儿生后第2天出现反应差、纳差,继而出现阵发性惊厥、呼吸不规则,需要机械通气,于3周龄死亡。全外显子组基因测序发现GLDC基因中有两个复合杂合变异,分别为母源的c.848C>G(p.A283G)和父源的c.1607G>A(p.R536Q),前者为未报道过的变异。检索国内外文献共收集到基因变异所致新生儿NKH 53例,加上本例共54例。NKH患儿主要表现为纳差、肌张力减低、呃逆、进行性嗜睡、呼吸不规则或呼吸暂停、新生儿惊厥。54例变异序列中GLDC基因变异42例(77.8%),AMT基因变异9例(16.7%),LIAS基因变异2例(3.7%),GCSH基因变异1例(1.9%)。结论:新生儿NKH临床表现多样,以神经系统表现最多见,GLDC基因变异为主要致病变异。
Objective To study the phenotypes and genotypes of neonatal nonketotic hyperglycinemia(NKH).MethodsA neonate with severe NKH admitted to our hospital was retrospectively analyzed.Using keywords'glycine cleavage enzyme','glycine decarboxylase','nonketotic hyperglycinemia'and'glycine encephalopathy'(both in Chinese and English),multiple medical databases were searched until December 31,2022.The clinical phenotypes and genotypes of neonatal NKH were summarized.ResultsFor our case,the neonate was lethargy and had no appetite on the second day of life,followed by recurrent seizures and irregular breathing,requiring mechanical ventilation.She died at 3 weeks of age.Two compound heterozygous variants were found in GLDC gene from whole exome sequencing,one was c.848C>G(p.A283G)of maternal origin and one was c.1607G>A(p.R536Q)of paternal origin.The former was a novel mutation.A total of 54 cases(including this case)were collected.The main clinical manifestations included poor feeding,decreased muscle tone,hiccups,progressive lethargy,irregular breathing,apnea and neonatal seizures.42 cases(77.8%)had GLDC gene mutations,9 cases(16.7%)had AMT gene mutations,2 cases(3.7%)had LIAS gene mutations and 1 case(1.9%)had GCSH gene mutations.ConclusionsNeurological manifestations are most common in neonatal NKH with wide clinical variations.GLDC gene mutations are the predominant pathogenic mutations.
作者
李维禧
汪清
冯星
Li Weixi;Wang Qing;Feng Xing(Department of Neonatology,Children's Hospital of Soochow University,Suzhou 215025,China)
出处
《中华新生儿科杂志（中英文）》
CAS
CSCD
2023年第8期460-464,共5页
Chinese Journal of Neonatology
