|
|
|
| Analysis of clinical characteristics of children with isovaleric acidaemia |
| WANG Xian1 WANG Zheng-hong2 SHANG Jie3 LI Hua-bing4▲ |
1.Department of Pediatrics,People′s Hospital of Tengchong City in Yunnan Province,Tengchong679100,China;
2.Department of Color Ultrasonic Room,Maternal and Child Health Care Hospital of Tengchong City in Yunnan Province, Tengchong679100,China;
3.Department of Infection Management Office,People′s Hospital of Zhucheng City in Shandong Province,Zhucheng262200,China;
4.The second Department of Pediatrics,People′s Hospital of Zhucheng City in Shandong Province,Zhucheng262200,China |
|
|
|
|
Abstract Isovaleric acidaemia(IVA)is one of the common inherited metabolic diseases.It can attack acutely,rapidly deteriorate and even suddenly die under certain metabolic stress.With the improvement of the diagnostic level of metabolic diseases,especially the analysis of blood amino acids and the analysis of urinary organic acids,early and correct treatment can make most patients through the risk of death or disability to avoid the occurrence of significant improvement in the prognosis.One case of IVA was given retrospective analysis,combined history,clinical features,laboratory tests and related literature to discuss the characteristics of children with IVA,the key to the success of this case was the first consideration of the possibility of genetic metabolic disease,gave the relevant auxiliary examination and a clear diagnosis by fastest speed.IVA of Children is easy to be misdiagnosed,missed diagnosis,the best way to cure the disease is early diagnosis and early treatment,to improve the prognosis.
|
|
|
|
|
|
| [1] |
张娟玲，武雅俐，刘郁明，等.串联质谱在遗传代谢性疾病筛查中的应用[J].中国优生与遗传杂志，2016，24（4）：12-14.
|
| [2] |
胡海利.新生儿遗传代谢病筛查与进展[J].中国妇幼保健，2015，6（30）：977-980.
|
| [3] |
Vatanavicharn N，Liammmongkolkul S，Sakamoto O，et al. Phenotypic and mutation spectrums of Thai patients with isovalericacidemia[J].Semin Neonatol，2002，7（1）：65.
|
| [4] |
Vockley J，Ensenauer R.Isovalericacidemia：new aspects of genetid and phenotypic heterogeneity[J].Am J Med Genet C Semin Med Genrt，2006，142（2）：95.
|
| [5] |
叶军.新生儿遗传代谢病筛查发展及诊治规范[J].中国计划生育和妇产科，2016，8（1）：6-12.
|
| [6] |
Gidl FS，Wedell A，Guthenberg C，et al.Nationwide neonatal screening for congenital adrenal hyperplasia in Sweden：a 26-year longitudinal prospective population-based study[J]. JAMA Pediatrics，2014，168（6）：567-574.
|
| [7] |
Loots DT.Abnormal tricarboxylic acid cycle metabolites in isovalerica cidaemia[J].J Inherit Metab Dis，2009，32（3）：403-411.
|
| [8] |
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）：1285.
|
| [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）：167-180.
|
| [10] |
Ribeiro CA，Leipnitz G，Amaral AU，et al.Creatine administration prevents Na+-K+-ATP ase inhibition induced by intracerebroventricular administration of isovaleric acid in cerebral cortex of young rats[J].Brain Res，2009，1262：81-88.
|
| [11] |
Sarafoglou K，Gaviglio A，Hietala A，et al.Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants[J].J Pediatr，2014，164（5）：1136-1140.
|
| [12] |
Sharma R，Seth A.Congenital adrenal hyperplasia：issues in diagnosis and treatment in children[J].Indian J Pediatr，2014，81（2）：178-185.
|
| [13] |
杨艳玲.有机酸代谢病的高危筛检[J].继续医学教育，2006，20（17）：35-39.
|
| [14] |
Singh RH，Rohr F，Frazie RD，et al.Recommendations for the nutrition management of phenylalanine hydroxylase deficiency[J].Genet Med，2014，16（2）：121-131.
|
|
|
|
