Brooke P Quertermous, Hayley J Hawkins, Alyssa A Schlotman, Huiying Wang, Sarah Kemme, Anita Pai, Settapong Jitwongwai, Napat Angkathunyakul, Ananya Pongpaibul, Saeed Mohammad
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引用次数: 0
摘要
进行性家族性肝内胆汁淤积3型（PFIC-3）是一种罕见的以慢性胆汁淤积为特征的疾病，通常在生命的前20年进展为终末期肝病（ESLD）。PFIC-3是由atp结合盒4 （ABCB4）基因的致病性遗传变异引起的，具有可变遗传；最常见的是常染色体隐性遗传。我们报告了两例PFIC-3的基因检测，证实了ABCB4纯合子基因型C .779 T . > C . p.L260P的新遗传变异。这两名患者均来自东南亚大陆，其临床表现与胆汁淤积进展为ESLD一致。
A novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series.
Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare disorder characterized by chronic cholestasis usually progressing to end-stage liver disease (ESLD) within the first two decades of life. PFIC-3 is caused by pathogenic genetic variants of the ATP-binding cassette 4 (ABCB4) gene with variable inheritance; the most common is autosomal recessive. We present two cases of PFIC-3 with genetic testing confirming a novel genetic variant in ABCB4 with homozygous genotype c.779 T > C, p.L260P. Both individuals are from mainland Southeast Asia and have a clinical picture consistent with cholestasis progressing to ESLD.
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