详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure

文献详情

资源类型：

收录情况： ◇ SCIE

作者：

机构： [1]Neonatal Center, Beijing Children’s Hospital, Capital Medical University, China [2]National Center for Children’s Health, Beijing, China

出处：

DOI：

ISSN：

关键词： Chinese congenital myasthenic syndrome MUSK gene neonate respiratory failure

摘要：

This was a Chinese neonatal congenital myasthenic syndromes case caused by muscle skeletal receptor tyrosine kinase gene mutations, which have not been recorded in the Human Gene Mutation Database. The newborn girl had refractory respiratory failure from birth to death, and failed extubation seven times. She had two heterozygous mutations: a non-sense mutation c.2062C>T (p.Q688X) inherited from father and a missense mutation c.2324T>C (p.F775S) inherited from mother, which was predicted pathogenic and harmful by bioinformatic softwares SIFT, PolyPhen_2 and REVEL. She positively responded to Neostigmine, but her parent quitted treatment when Pyridostigmine Bromide (2 mg/kg Q12 h) had been given for 8 days. She died 2 days after she was taken home by her parents on age of 56 days. © Copyright © 2020 Shen, Wang, Zheng, Zhang, Wu and Hei.

基金：

语种：

PubmedID：

中科院(CAS)分区：

出版当年[2019]版：

大类 | 4 区医学

小类 | 3 区儿科

最新[2023]版：

大类 | 3 区医学

小类 | 3 区儿科

JCR分区：

出版当年[2018]版：

Q2 PEDIATRICS

最新[2023]版：

Q2 PEDIATRICS

影响因子： 2.1 最新[2023版] 2.5 最新五年平均 2.349 出版当年[2018版] 2.534 出版当年五年平均 2.335 出版前一年[2017版] 2.634 出版后一年[2019版]

第一作者：

第一作者机构： [1]Neonatal Center, Beijing Children’s Hospital, Capital Medical University, China [2]National Center for Children’s Health, Beijing, China

共同第一作者：

通讯作者：

通讯机构： [*1]National Center for Children’s Health, Beijing, China [*2]Neonatal Center, Beijing Children’s Hospital, Capital Medical University, Beijing, China

推荐引用方式(GB/T 7714)：

APA：

MLA：

相关文献

[1]CHAT基因突变导致的先天性肌无力综合征伴发作性呼吸暂停二例 [2]Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea [3]经鼻持续气道正压治疗新生儿呼吸衰竭 [4]Incidence, management and mortality of acute hypoxemic respiratory failure and acute respiratory distress syndrome from a prospective study of Chinese paediatric intensive care network [5]Physiological Correlation of Airway Pressure and Transpulmonary Pressure Stress Index on Respiratory Mechanics in Acute Respiratory Failure [6]A Neonate with Unexplained Hair Loss [7]Antibiotic usage in Chinese children: a point prevalence survey [8]A Neonate with Knotted Lanugo [9][Extracorporeal membrane oxygenation for severe acute respiratory and heart failure in a child with severe pneumonia]. [10]Etiology of brachial plexus injury in neonate