中国循证儿科杂志2012，Vol.7Issue(3)：172-177,6.DOI:10.3969/j.issn.1673-5501.2012.03.003
低血清谷氨酸转肽酶进行性家族性肝内胆汁淤积症23例临床分析
Clinical characteristics of progressive familial intrahepatic cholestasis cases with low γ-glutamyltransferase in 23 children
摘要
Abstract
Objective To analyze the clinical manifestations of various types of progressive familial intrahepatic cholestasis ( PFIC ) characterized by low γ-glutamyltransferase ( GGT). Methods Children were clinically diagnosed as PFIC with low GGT in 2004-2007. Clinical symptoms, laboratory tests and liver histopathological changes were retrospectively analyzed. According to ATP8B1 and ABCB11 gene exon sequencing results, they were classified into three groups, PFIC- I , PFIC-II and unclassified groups. The differences among them were compared. Results A total of 23 cases were born with normal birth weight and the clinical manifestations of onset were jaundice, pruritus and liver function damage. The median age of onset was 40 days and the median treatment age was 6 months. Thirteen cases ( 56. 5% ) appeared white bole stool, 3 cases with significant diarrhea and 6 cases with malnutrition, rickets, growth retardation. Two cases in the follow-up were found to have gallstones. Liver biopsy pathology showed non-inilammation or mild inflammation of liver cells, non-fatty degeneration oi liver cells, multlnucleated giant cells transformation and cholestasis of liver cells or obvious cholangiole ducts. Patients in PFIC- I , PFIC- II and unclassified groups were 9, 7 and 7 cases respectively. Clinical symptoms of the unclassified group were the most severe among three groups. Clinical symptoms of patients in PFIC-Ⅱ group were relatively severe, with significantly elevated levels of serum ALT and total bile acid ( TBA ) than those in PFIC- I group, however with lower GGT levels than those in PFIC- I group. There was significant difference among three groups in hepatic multinucleated giant cell transformation pathologically ( P < 0. 01 ). PFIC- I group showed no hepatic multinucleated giant cell transformation. Conclusions PFIC- I group shows no hepatic multinucleated giant cell transformation. The levels of serum ALT and TBA in PFIC-H group elevate significantly and are higher than those in PFIC- Ⅰpatients.These results are helpful to the clinical classification and treatment of the disease.关键词
进行性家族性肝内胆汁淤积症/临床特征/儿童/低血清谷氨酸转肽酶Key words
Progressive familial intrahepatic cholestasis/Clinical characteristics/Children/Low serum γ-glutamyltransferase引用本文复制引用
陆怡,刘丽艳,王晓红,胡锡琪,王建设,俞蕙..低血清谷氨酸转肽酶进行性家族性肝内胆汁淤积症23例临床分析[J].中国循证儿科杂志,2012,7(3):172-177,6.基金项目
国家自然科学基金项目:30672257,81070281 （）
