中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2014年
15期
1187-1190
,共4页
脊髓性肌萎缩伴呼吸窘迫1型%免疫球蛋白μ结合蛋白2基因%膈肌麻痹%呼吸衰竭
脊髓性肌萎縮伴呼吸窘迫1型%免疫毬蛋白μ結閤蛋白2基因%膈肌痳痺%呼吸衰竭
척수성기위축반호흡군박1형%면역구단백μ결합단백2기인%격기마비%호흡쇠갈
Spinal muscular atrophy with respiratory distress type 1%Immunoglobulin μ-binding protein 2 gene%Diaphragmatic paralysis%Respiratory failure
脊髓性肌萎缩伴呼吸窘迫1型是一种罕见的常染色体隐性遗传性疾病.其致病基因免疫球蛋白μ结合蛋白2位于染色体11q13.3上,编码免疫球蛋白μ结合蛋白2.该病以脊髓前角α运动神经元变性为主要病理特征,以出生6周～6个月内出现不可逆的膈肌麻痹、呼吸衰竭、对称性四肢远端肌无力和肌萎缩为临床特点.患儿需要呼吸机辅助呼吸维持生命,预后不良.
脊髓性肌萎縮伴呼吸窘迫1型是一種罕見的常染色體隱性遺傳性疾病.其緻病基因免疫毬蛋白μ結閤蛋白2位于染色體11q13.3上,編碼免疫毬蛋白μ結閤蛋白2.該病以脊髓前角α運動神經元變性為主要病理特徵,以齣生6週～6箇月內齣現不可逆的膈肌痳痺、呼吸衰竭、對稱性四肢遠耑肌無力和肌萎縮為臨床特點.患兒需要呼吸機輔助呼吸維持生命,預後不良.
척수성기위축반호흡군박1형시일충한견적상염색체은성유전성질병.기치병기인면역구단백μ결합단백2위우염색체11q13.3상,편마면역구단백μ결합단백2.해병이척수전각α운동신경원변성위주요병리특정,이출생6주～6개월내출현불가역적격기마비、호흡쇠갈、대칭성사지원단기무력화기위축위림상특점.환인수요호흡궤보조호흡유지생명,예후불량.
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease.It is caused by mutations in the gene immunoglobulin μ-binding protein 2 which resides on chromosome 11 q13.3 and encodes the immunoglobulin μ-binding protein 2.This disorder is characterized by degeneration of anterior horn α-motoneurons and manifesting as irreversible diaphragmatic paralysis,respiratory distress associated with progressive symmetrical muscular weakness,distal lower limbs mainly involved,and muscle atrophy between the first 6 weeks and 6 months of life.Overall,SMARD1 is a poor-prognosis disease that artificial ventilation is needed for the whole life.
