Analysis of mass spectrometric detection in 21 neonatal with neonatal intrahepatic cholestasis disease

VernacularTitle:新生儿肝内胆汁淤积症患者21例质谱检测结果
Author: Wang LI ; Chao LUO ; Guoxing GENG ; Xin FAN ; Jingsi LUO ; Jinwu YU ; Shaoke CHEN
Publication Type:Journal Article
Keywords: Citrin; Intrahepatic cholestasis; Tandem mass spectrum; GC-MS
From: The Journal of Practical Medicine 2016;32(17):2825-2828
CountryChina
Language:Chinese
Abstract: Objective To analyze blood Met、 Phe 、Tyr、 Arg、 Cit、 Orn、 Ser、 Thr、 C0、 C2、 C3、 C14、C14 ∶ 1 , C16 , C16 ∶ 1 , C18 , C18 ∶ 1 and urine 4-OH-PHPLA , 4-OH-PHPPA level of NICCD patient and discuss the application value of diagnosis NICCD. Methods From May 2011 to May 2015, 21 NICCD patient were diagnose in Guangxi Newborn Screening Center. Meanwhile, 100 normal children were selected as the control group. Blood Met, Phe, Tyr and other factors and urine 4-OH-PHPLA, 4-OH-PHPPA level were analyzed by SPSS. Results In the experimental group, blood Met, Phe, Tyr and many other indexes and urine 4-OH-PHPLA, 4-OH-PHPPA level were higher and blood Orn/Cit were lower than the control group(P < 0.05), while blood C2and Cit/Arg were increased (P > 0.05). Conclusion NICCD patient has abnormal biochemical index. Blood test by TMS and urine test by GC-MS are very important in NICCD diagnosis.