金华市妇幼保健院,浙江金华,321000;
摘要:总结一例神经母细胞瘤扩增序列基因突变致儿童急性肝功能衰竭的护理体会。目前该病无特异性治疗,主要通过抗感染、降血氨、血浆置换联合血液净化等对症支持治疗;对患儿进行全面的病情监测至关重要,主要通过神志、体温、血糖监测病情变化;提供针对性的营养支持,并根据疾病的进展调整方案;制定个性化健康宣教,帮助患儿及家属了解疾病信息,促进患儿身心健康,提高生活质量;建立长期随访观察,避免感染再次发生。
关键词:NBAS;肝功能衰竭;婴儿肝衰竭综合征2型
参考文献
[1]赵宸滋,张晴,李志刚.NBAS基因的生物学功能和相关疾病的研究进展[J].罕见病研究,2022,1(03):359-364.
[2]Maksimova N, Hara K, Nikolaeva I, et al.Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly Journal of Medical Genetics 2010;47:538-548.
[3]Tobias B,Haack,Christian,et al.Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.[J].American journal of human genetics,2015,97(1):163-9.
[4]Li Z D,Abuduxikuer K,Zhang J,et al.NBAS disease:14 new patients, a recurrent mutation,and genotype-phenotype correlation among 24 Chinese patients[J].Hepatology research:the official journal of the Japan Society of Hepatology,2020,50(11):1306-1315.DOI:10.1111/hepr.13559.
[5]Shabani-Mirzaee,H,Sayarifard,et al.Acute infantile liver failure syndrome type 2 in a 2.5-year-old boy:A case report.Clin Case Rep.2023;11 Clin Case Rep.doi:10.1002/ccr3.7892
[6]中华医学会感染病学分会肝衰竭与人工肝学组,中华医学会肝病学分会重型肝病与人工肝学组. 肝衰竭诊治指南(2024年版)[J]. 中华临床感染病杂志,2024, 网络预发表.
[7]Christian,Staufner,Tobias B,Straub,et al.Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.[J].Journal of inherited metabolic disease,2016,39(1):3-16.
[8]Li J Q,Qiu Y L,Gong J Y,et al.Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study[J].Bmc Gastroenterology,2017,17(1).DOI:10.1186/s12876-017-0636-3.
[9]张育才,熊熙.肝功能衰竭患儿如何进行营养支持[J].中国小儿急救医学,2017,24(1):13-16.
[10]谢能文,李小广,涂慧敏.血糖水平与肝衰竭患者预后的关系[J].赣南医学院学报,2016,36(01):80-82.
[11]秦奎英,王彬,吴小花.癌症住院患儿Child Life干预研究进展[J].护理与康复,2024,23(02):98-101.
[12]郝武娟,林琼.新神经母细胞瘤扩增序列基因突变致婴儿肝衰竭综合征2型一例并文献复习[J].中国小儿急救医学,2024,31(1):73-76.