Clinical analysis of 15 infants with citrin deficiengcy
10.3760/cma.j.issn.1008-6315.2010.11.039
- VernacularTitle:婴儿Citrin缺陷病15例临床分析
- Author:
Wenjian WANG
;
Yuejie ZHENG
- Publication Type:Journal Article
- Keywords:
Citrin deficiengcy;
Infants;
Gas chromatography-mass spectrometry
- From:
Clinical Medicine of China
2010;26(11):1221-1223
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the clinical characteristics and treatment outcome of citrin deficiengc in infants. Methods The clinical data of 15 patients with citrin deficiengcy were analyzed retrospectively and the diagnoses were confirmed by gas chromatography-mass spectrometry(GC/MS). Results The patients consisted of 9 male and 6 female infants,whose age of onset ranged from 2 to 10 days excepted 1 case later than one month. The main clinical manifestations were jaundice and swelling liver,laboratory data showed increased total and direct bilirubin,bile acid,alanine aminotransferase,γ-glutamyltransferase,blood ammonia,lactic acid and α-fetoprotein;7 paitients had prolongation of prothrombin time and 9 had dyslipidaemia;G C/MS analysis of urine samples showed elevated galactose ,galactitol and 4 - hydroxyl phenyllactic acid;citrin gene were positive in 6 cases ,cytomegalovirus infections were found in 13 cases. After the therapy of fat-soluble vitamins(A,D and K)and lactose free formula,the jaundice relieved rapidly and dispeared within 2 weeks in all cases. The 6-month follow-up data showed no symptoms in 6 cases. Conclusions The clinical manifestations of citrin deficiengcy are nonspecific,GC/MS and lactose free formula treatment can be used to confirm the diagnosis.
