新生儿期异戊酸血症3 例诊治与随访

doi:10.3969/j.issn.2095-5340.2020.01.014

发育医学电子杂志

2020, Vol. 8

Issue (1): 77-80 DOI: 10.3969/j.issn.2095-5340.2020.01.014

围产医学临床经验交流｜新生儿

新生儿期异戊酸血症3 例诊治与随访

孙萌　李育霖　邹卉

济南市妇幼保健院　新生儿疾病筛查中心，山东　济南 250001

Diagnosis, treatment and follow-up of 3 cases with neonatal isovaleric acidemia

SUN Meng, LI Yu-lin, ZOU Hui

Department of Neonatal Disease Screening Center, Jinan Maternal and Child Health Care Hospital, Shandong, Ji'nan 250001, China

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摘要 【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。

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关键词: font-size:14px 新生儿')" href="#">">新生儿异戊酸血症早期确诊预后

Abstract: 【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 acidemiais 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.

Key words: font-size:14px Neonate')" href="#">">Neonate Isovaleric acidemia Early diagnosis Prognosis

收稿日期: 2019-11-11 出版日期: 2020-01-30 发布日期: 2020-01-23 期的出版日期: 2020-01-30

基金资助: 山东省医药卫生发展科技项目（2014WS0204）

通讯作者: 邹卉 E-mail: zouhui819@163.com

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, 8(1): 77-80.
SUN Meng, LI Yu-lin, ZOU Hui. Diagnosis, treatment and follow-up of 3 cases with neonatal isovaleric acidemia. Journal of Developmental Medicine(Electronic Version), 2020, 8(1): 77-80.

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http://www.fyyxzz.com/CN/10.3969/j.issn.2095-5340.2020.01.014 或 http://www.fyyxzz.com/CN/Y2020/V8/I1/77

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