| 新生儿期异戊酸血症3例诊治与随访 |
| |
| 引用本文： | 孙萌,李育霖,邹卉. 新生儿期异戊酸血症3例诊治与随访[J]. 发育医学电子杂志, 2020, 0(1): 77-80 |
| |
| 作者姓名： | 孙萌 李育霖 邹卉 |
| |
| 作者单位： | 济南市妇幼保健院新生儿疾病筛查中心 |
| |
| 基金项目： | 山东省医药卫生发展科技项目(2014WS0204) |
| |
| 摘 要： | 目的探讨新生儿期异戊酸血症的预防与治疗方法。方法分析3例异戊酸血症新生儿的临床发病特点、随访结果以及目前治疗情况,评估异戊酸血症的预后。结果经过新生儿疾病筛查确诊并规范治疗后,其中2例患儿目前发育基本正常,生化结果稳定。另一例患儿随着年龄增大,饮食控制较难管理,其发育水平仍出现下降。结论异戊酸血症需要早期确诊,新生儿疾病筛查为早期诊断此病的重要方法,规范治疗并且配合综合康复训练有助于改善患者预后。
|
| 关 键 词： | 新生儿 异戊酸血症 早期确诊 预后 |
Diagnosis,treatment and follow-up of 3 cases with neonatal isovaleric acidemia |
| |
| SUN Meng,LI Yu-lin,ZOU Hui. Diagnosis,treatment and follow-up of 3 cases with neonatal isovaleric acidemia[J]. Journal of Developmental Medicine(Electronic Version), 2020, 0(1): 77-80 |
| |
| Authors: | SUN Meng LI Yu-lin ZOU Hui |
| |
| Affiliation: | (Department of Neonatal Disease Screening Center,Jinan Maternal and Child Health Care Hospital,Shandong,Ji'nan 250001,China) |
| |
| Abstract: | Objective To explore the prevention and treatment of the neonatal isovaleric acidemia.Methods The clinical characteristics,follow-up results and current treatment of three neonates diagnosed with isovaleric acidemia were analyzed,and the prognosis of isovaleric acidemia was evaluated.Results After diagnosis by neonatal disease screening and standard treatment,two of the patients had normal development and stable biochemical results.The other patient's developmental level experienced a drop,since the diet control was more difficult to manage with the increase of age.Conclusions Early diagnosis of isovaleric acidemia is needed.Neonatal disease screening is an important method for early diagnosing this disease.Standardized treatment and comprehensive rehabilitation training are helpful to the prognosis of patients. |
| |
| Keywords: | Neonate Isovaleric acidemia Early diagnosis Prognosis |
| 本文献已被 维普 等数据库收录！ |
|
