Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan
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DOI：
10.1002/jimd.12483
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发表时间：
2022-02-25
影响因子：
4.2
通讯作者：
Nakamura, Kimitoshi
中科院分区：
文献类型：
--
作者：
Kido, Jun;Haberle, Johannes;Nakamura, Kimitoshi
Citrin缺乏症是由SLC 25 A13基因突变引起的常染色体隐性遗传疾病。该疾病可表现出年龄依赖性临床表现：瓜氨酸缺乏引起的新生儿肝内胆汁淤积（NICCD）、发育不良和瓜氨酸缺乏引起的血脂异常（FTTDCD）以及成人发作的II型瓜氨酸血症（CTLN 2）。作为一项调查日本citrin缺乏症患者临床表现、药物治疗和长期结局的全国性研究，我们收集了2000年1月至2019年12月期间在不同机构诊断和/或治疗的222例患者的临床数据。在整个队列中，218例患者存活，4例患者（1例FTTDCD和3例CTLN 2）死亡。所有患者
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and dyslipidemia by citrin deficiency (FTTDCD), and adult-onset type II citrullinemia (CTLN2). As a nationwide study to investigate the clinical manifestations, medical therapy, and long-term outcome in Japanese patients with citrin deficiency, we collected clinical data of 222 patients diagnosed and/or treated at various different institutions between January 2000 and December 2019. In the entire cohort, 218 patients were alive while 4 patients (1 FTTDCD and 3 CTLN2) had died. All patients