中国继续医学教育
中國繼續醫學教育
중국계속의학교육
CHINA CONTINUING MEDICAL EDUCATION
2015年
21期
140-141
,共2页
进行性家族性肝内胆汁淤积症%基因突变%临床诊疗
進行性傢族性肝內膽汁淤積癥%基因突變%臨床診療
진행성가족성간내담즙어적증%기인돌변%림상진료
PFIC%Gene mutation%Clinical diagnosis and treatment
进行性家族性肝内胆汁淤积症是一组临床较为罕见的家族遗传性疾病,存活率低,生存质量极差且治疗困难。笔者临床所见进行性家族性肝内胆汁淤积症兄妹患者2例,将其诊疗经过总结探讨,以提高医疗水平。
進行性傢族性肝內膽汁淤積癥是一組臨床較為罕見的傢族遺傳性疾病,存活率低,生存質量極差且治療睏難。筆者臨床所見進行性傢族性肝內膽汁淤積癥兄妹患者2例,將其診療經過總結探討,以提高醫療水平。
진행성가족성간내담즙어적증시일조림상교위한견적가족유전성질병,존활솔저,생존질량겁차차치료곤난。필자림상소견진행성가족성간내담즙어적증형매환자2례,장기진료경과총결탐토,이제고의료수평。
Progressive familial intrahepatic cholestasis(PFIC) is a group of clinical relatively rare familial hereditary disease, which has low survival rate, poor quality of life and difficulty to treat. The author has seen two cases of patients with PFIC in the clinical practice, and the diagnosis and treatment were summarized to improve the medical level.