医学
胆汁淤积
肝移植
新生儿胆汁淤积症
瓜氨酸血症
肝病学
内科学
胃肠病学
进行性家族性肝内胆汁淤积症
肝活检
肝硬化
新生儿筛查
肝病
小儿胃肠病
胆道闭锁
无症状的
儿科
移植
尿素循环
活检
精氨酸
氨基酸
化学
生物化学
作者
Ayano Inui,Jae Sung Ko,Voranush Chongsrisawat,Anupam Sibal,Winita Hardikar,Mei‐Hwei Chang,Suporn Treepongkaruna,Katsuhiro Arai,Kyung Mo Kim,Huey‐Ling Chen
摘要
Abstract Citrin deficiency is an autosomal recessive metabolic liver disease caused by mutations in the SLC25A13 gene. The disease typically presents with cholestasis, elevated liver enzymes, hyperammonemia, hypercitrullinemia, and fatty liver in young infants, resulting in a phenotype known as “neonatal intrahepatic cholestasis caused by citrin deficiency” (NICCD). The diagnosis relies on clinical manifestation, biochemical evidence of hypercitrullinemia, and identifying mutations in the SLC25A13 gene. Several common mutations have been found in patients of East Asian background. The mainstay treatment is nutritional therapy in early infancy utilizing a lactose‐free and medium‐chain triglyceride formula. This approach leads to the majority of patients recovering liver function by 1 year of age. Some patients may remain asymptomatic or undiagnosed, but a small proportion of cases can progress to cirrhosis and liver failure, necessitating liver transplantation. Recently, advancements in newborn screening methods have improved the age of diagnosis. Early diagnosis and timely management improve patient outcomes. Further studies are needed to elucidate the long‐term follow‐up of NICCD patients into adolescence and adulthood.
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