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

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

Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency is a new hereditary bile acid metabolic disease due to biallelic mutations of the SLC10A1 gene and is not rare in China. Marked and persistent hypercholanemia in childhood is the major clinical feature of NTCP deficiency, and this cond...

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Main Author: SONG Yuanzong
Format: Article
Language:zho
Published: Editorial Department of Journal of Clinical Hepatology 2019-08-01
Series:Linchuang Gandanbing Zazhi
Online Access:http://www.lcgdbzz.org/qk_content.asp?id=10077
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spelling doaj-f4798314d5cf4b089307a6bc9eaddbf42020-11-25T01:32:09ZzhoEditorial Department of Journal of Clinical HepatologyLinchuang Gandanbing Zazhi1001-52561001-52562019-08-0135816901692Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiencySONG Yuanzong0Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, ChinaSodium-taurocholate cotransporting polypeptide (NTCP) deficiency is a new hereditary bile acid metabolic disease due to biallelic mutations of the SLC10A1 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. SLC10A1 gene detection may facilitate the timely and definite diagnosis of this disease and thus avoid unnecessary examinations and interventions.http://www.lcgdbzz.org/qk_content.asp?id=10077
collection DOAJ
language zho
format Article
sources DOAJ
author SONG Yuanzong
spellingShingle SONG Yuanzong
Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
Linchuang Gandanbing Zazhi
author_facet SONG Yuanzong
author_sort SONG Yuanzong
title Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
title_short Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
title_full Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
title_fullStr Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
title_full_unstemmed Research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
title_sort research advances in the pathogenesis, clinical manifestations, and diagnosis/treatment of sodium-taurocholate cotransporting polypeptide deficiency
publisher Editorial Department of Journal of Clinical Hepatology
series Linchuang Gandanbing Zazhi
issn 1001-5256
1001-5256
publishDate 2019-08-01
description Sodium-taurocholate cotransporting polypeptide (NTCP) deficiency is a new hereditary bile acid metabolic disease due to biallelic mutations of the SLC10A1 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. SLC10A1 gene detection may facilitate the timely and definite diagnosis of this disease and thus avoid unnecessary examinations and interventions.
url http://www.lcgdbzz.org/qk_content.asp?id=10077
work_keys_str_mv AT songyuanzong researchadvancesinthepathogenesisclinicalmanifestationsanddiagnosistreatmentofsodiumtaurocholatecotransportingpolypeptidedeficiency
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