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| Nursing care for neonates with isovaleric acidemia: a case study |
| ZHANG Shuanghong1, LIU Jiaqi1, LYU Junying2, WU Yujie1, ZHANG Liping3. |
| 1.The Second Clinical College, Wenzhou Medical University, Wenzhou, 325035; 2.Department of Neonatal Intensive Care Unit, the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou, 325027; 3.Department of Clinical Skill Training,the Second Affiliated Hospital & Yuying Children’s Hospital of Wenzhou Medical University, Wenzhou, 325027 |
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ZHANG Shuanghong,LIU Jiaqi,LYU Junying, et al. Nursing care for neonates with isovaleric acidemia: a case study[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2018, 48(9): 694-697.
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Abstract To report the nursing care experience of one case of neonatal isovaleric acidemia. Nursing points included: emergency nursing; key points of condition observation; medical care; early assessment of the bleeding tendency and the nursing care; guidance for follow-up visits. After treatment and careful nursing, the patient was discharged from hospital with improved symptoms.
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Received: 27 November 2017
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[1] KILIC M, KAYMAZ N, OZGUL R K. Isovaleric acidemia presenting as diabetic ketoacidosis: a case report[J]. J Clin Res Pediatr Endocrinol, 2014, 6(1): 59-61.
[2] 邵肖梅, 叶鸿瑁, 邱小汕. 实用新生儿学[M]. 4版. 北京: 人民卫生出版社, 2011.
[3] JOSHI S N, VENUGOPALAN P. Clinical characteristics of neonates with inborn errors of metabolism detected by Tandem MS analysis in Oman[J]. Brain Dev, 2007, 29(9): 543-546.
[4] COUCE M L, ALDAMIZ-ECHEVARRIA L, BUENO M A, et al. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia[J]. J Hum Genet, 2017, 62(3): 355-360.
[5] TANAKA K, BUDD M A, EFRON M L, et al. Isovaleric acidemia: a new genetic defect of leucine metabolism[J]. Proc Natl Acad Sci U S A, 1966, 56(1): 236-242.
[6] 赏月, 刘晓红. 异戊酸血症基因及代谢异常与症状相关性研究现状[J]. 中国妇幼保健, 2013, 28(27): 4572-4574.
[7] MOORTHIE S, CAMERON L, SAGOO G S, et al. Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases[J]. J Inherit Metab Dis, 2014, 37(6): 889-898.
[8] 顾学范. 临床遗传代谢病[M]. 北京: 人民卫生出版社, 2015: 110-113.
[9] 韩连书, 高晓岚, 叶军, 等. 串联质谱技术在有机酸血症筛查中的应用研究[J]. 中华儿科杂志, 2005, 43(5): 325-330.
[10] 唐建明. 新生儿异戊酸血症一例[J]. 中华儿科杂志, 2007, 45(9): 720.
[11] 任常军, 李彦敏, 陈宝昌, 等. 异戊酸血症1例报告[J]. 临床儿科杂志, 2009, 27(12): 1185.
[12] GRUNERT S C, WENDEL U, LINDNER M, et al. Clinical and neurocognitive outcome in symptomatic isovaleric aci-demia[J]. Orphanet J Rare Dis, 2012, 7: 9.
[13] VOCKLEY J, ENSENAUER R. Isovaleric acidemia:new aspects of genetic and phenotypic heterogeneity[J]. Am J Med Genet C Semin Med Genet, 2006, 142C(2): 95-103.
[14] PENA-QUINTANA L, LLARENA M, REYES-SUAREZ D, et al. Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives[J]. Patient Prefer Adherence, 2017, 11: 1489-1496.
[15] ADEVA-ANDANY M M, CALVO-CASTRO I, FERNANDEZ-FERNANDEZ C, et al. Significance of l-carnitine for human health[J]. IUBMB Life, 2017, 69(8): 578-594.
[16] 谭建强, 陈大宇, 莫振勤, 等. 新生儿全血细胞减少伴代谢异常[J]. 中国当代儿科杂志, 2016, 18(11): 1150-1153.
[17] PINTO A, DALY A, EVANS S, et al. Dietary practices in isovaleric acidemia: A European survey[J]. Mol Genet Metab Rep, 2017, 12: 16-22.
[18] DERCKSEN M, KULIK W, MIENIE L J, et al. Polyunsaturated fatty acid status in treated isovaleric acidemia patients [J]. Eur J Clin Nutr, 2016, 70(10): 1123-1126. |
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