钠牛磺胆酸共转运多肽缺陷病的发病机制、临床表现及诊疗进展

宋元宗

doi:10.3969/j.issn.1001-5256.2019.08.007

钠牛磺胆酸共转运多肽缺陷病的发病机制、临床表现及诊疗进展

DOI: 10.3969/j.issn.1001-5256.2019.08.007

宋元宗

暨南大学附属第一医院儿科

基金项目:

国家自然科学基金(81741080)；

详细信息

中图分类号: R596.1
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出版历程
- 收稿日期: 2019-06-10
- 出版日期: 2019-08-20

Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency

Song YuanZong

Department of Pediatrics, The First Affiliated Hospital of Jinan University

Research funding:

摘要

摘要: 钠牛磺胆酸共转运多肽(NTCP)缺陷病是SLC10A1双等位基因突变导致的一种新的遗传性胆汁酸代谢病,在我国可能并不罕见。NTCP缺陷病以儿童期显著而持续性的高胆汁酸血症为主要临床特征,并可能参与新生儿高胆红素血症、婴儿早期胆汁淤积症和妊娠胆汁淤积症的形成。NTCP缺陷病目前缺乏特异性治疗手段,但通常预后良好。SLC10A1基因分析有助于该病患者及时确诊,同时避免不必要的检查和干预。
- 代谢疾病 /
- 钠牛磺胆酸共转运多肽 /
- SLC10A1基因 /
- 胆汁淤积
Abstract: Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency is a new hereditary bile acid metabolic disease due to biallelic mutations of the SLC10 A1 gene and is not rare in China. Marked and persistent hypercholanemia in childhood is the major clinical feature of NTCP deficiency, and this condition might be involved in the development of neonatal hyperbilirubinemia, cholestasis in early infancy, and cholestasis in pregnancy. At present, there lack specific therapies for NTCP deficiency, but such patients tend to have good prognosis. SLC10 A1 gene detection may facilitate the timely and definite diagnosis of this disease and thus avoid unnecessary examinations and interventions.
- metabolic diseases /
- sodium-taurocholate cotransporting polypeptide /
- SLC10A1 gene /
- cholestasis

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参考文献(33)

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