脊髓性肌萎缩伴呼吸窘迫1型不伴呼吸衰竭1例报告

发布时间：2018-03-12 15:43

本文选题：脊髓性肌萎缩伴呼吸窘迫型　切入点：呼吸衰竭　出处：《临床儿科杂志》2017年03期 　论文类型：期刊论文

【摘要】：目的探讨脊髓性肌萎缩伴呼吸窘迫1型(SMARD 1)的诊断和鉴别诊断。方法回顾分析1例确诊为SMARD 1女性患儿的临床资料、基因检测结果及随访,并复习相关文献。结果患儿因羊水过少剖宫产,生后吃奶、反应欠佳转入新生儿科,诊断"新生儿脓毒症、感染性休克、弥散性血管内凝血、非典型化脓性脑膜炎",经治疗1个月后出院;生后2个月出现踝关节挛缩,肝功能异常、心肌受损;6个月时发现肌张力明显减低、运动发育落后;8个月时行SMA相关基因检测结果阴性;9个月时行周围神经病panel基因检测发现IGHMBP2基因存在2个杂合突变,即exon8 c.1061-2AG和exon12 c.1708CT,分别来自父亲和母亲,其中位点exon12 c.1708CT已有文献报道与疾病相关,另1个为剪切突变,结合临床确诊为SMARD1。患儿现2岁,反复合并呼吸道感染,但尚未出现呼吸窘迫或呼吸衰竭。结论 SMARD1的临床表型复杂多样,该例患儿为经基因诊断病例。
[Abstract]:Objective to investigate the diagnosis and differential diagnosis of spinal muscular atrophy with respiratory distress type 1 (SMARD1). Results due to oligohydramnios cesarean section, postnatal nursing, poor response to neonatal paediatrics, the diagnosis of "neonatal sepsis, septic shock, disseminated intravascular coagulation," Atypical suppurative meningitis, 1 month after treatment, discharged from hospital, 2 months after birth, ankle contracture, abnormal liver function, myocardial damage. At 8 months, the results of SMA related genes were negative; at 9 months, the panel gene of peripheral neuropathy had two heterozygous mutations, exon8 c.1061-2AG and exon12 c.1708CT. The locus exon12 c.1708CT has been reported to be associated with the disease, and the other one is a shearing mutation, which is confirmed as SMARD1.The child is now 2 years old and has recurrent respiratory tract infection. Conclusion the clinical phenotype of SMARD1 is complex and diverse.
【作者单位】：中国人民解放军白求恩国际和平医院新生儿科;
【分类号】：R725.6;R744.8

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