Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.
Clinical characterization of NTCP deficiency in paediatric patients : A case-control study based on SLC10A1 genotyping analysis.
复制标题
DOI：
10.1111/liv.15031
复制
发表时间：
2021-11
影响因子：
6.7
通讯作者：
Song, Yuan-Zong
中科院分区：
文献类型：
--
作者：
Deng, Li-Jing;Ouyang, Wen-Xian;Liu, Rui;Deng, Mei;Qiu, Jian-Wu;Yaqub, Muhammad-Rauf;Raza, Muhammad-Atif;Lin, Wei-Xia;Guo, Li;Li, Hua;Chen, Feng-Ping;Ouyang, Ying;Huang, Yu-Ge;Huang, Yue-Jun;Long, Xiao-Ling;Huang, Xiao-Ling;Li, Shuang-Jie;Song, Yuan-Zong
钠-牛磺胆酸共转运多肽缺乏症(NTCPD)是由SLC10A1基因双等位基因突变引起的一种新的疾病。由于缺乏来自病例对照研究的令人信服的证据，其基因和表型特征仍有待深入研究。本研究旨在探讨儿童NTCPD的基因分型和临床表型特征。所有NTCPD患者的SLC10A1基因通过筛查流行变异c.800C>；T并在必要时进行Sanger测序确认。收集、复习和分析临床表现和实验室改变，并与相关对照进行定性和定量比较。共有113例儿童NTCPD患者被诊断为NTCPD，其中c.374dupG和c.682_683delCT是两个新的致病突变。99.12%的患者出现高胆汁性贫血。感染新生儿间接高胆红素血症的阳性率高于对照组。此外，与对照组相比，在婴儿早期，患者更常见的是一过性淤胆性黄疸、肝酶升高和25-羟基维生素D(VitD)缺乏。所有NTCPD患者在对症和支持性治疗后均表现出良好的临床结果。这些发现丰富了SLC10A1突变谱，并为NTCPD的表型特征提供了全面的见解。具有上述年龄相关性临床特征的患者应考虑NTCPD，并对SLC10A1基因进行分析。此外，在NTCPD患者的管理中应避免过度调查和干预。
Na+‐taurocholate cotransporting polypeptide deficiency (NTCPD) is a newly described disorder arising from biallelic mutations of the SLC10A1 gene. As a result of a lack of compelling evidence from case‐control studies, its genotypic and phenotypic features remain open for in‐depth investigation. This study aimed to explore the genotypic and clinical phenotypic characteristics of paediatric patients with NTCPD. The SLC10A1 genotypes of all NTCPD patients were confirmed by screening for the prevalent variant c.800C>T and Sanger sequencing when necessary. The clinical presentations and laboratory changes were collected, reviewed and analysed, and then qualitatively and quantitatively compared with the relevant controls. A total of 113 paediatric NTCPD patients were diagnosed while c.374dupG and c.682_683delCT were detected as two novel pathogenic mutations. Hypercholanemia was observed in 99.12% of the patients. Indirect hyperbilirubinemia in affected neonates exhibited higher positive rates in comparison to controls. Moreover, transient cholestatic jaundice, elevated liver enzymes and 25‐hydroxyvitamin D (Vit D) deficiency during early infancy were more commonly observed in patients than in controls. All NTCPD patients exhibited favourable clinical outcomes as a result of symptomatic and supportive treatment. The findings enriched the SLC10A1 mutation spectrum and provided comprehensive insights into the phenotypic characteristics of NTCPD. NTCPD should be considered and SLC10A1 gene should be analysed in patients with above age‐dependent clinical features. Furthermore, over investigation and intervention should be avoided in the management of NTCPD patients.
登录
查看更多内容
影响因子：
5.4
作者：
Yan, Huan;Peng, Bo;Li, Wenhui
通讯作者：
Li, Wenhui
影响因子：
1.1
作者：
Andrianov, Melissa G.;Azzam, Ruba K.
通讯作者：
Azzam, Ruba K.
影响因子：
8
作者：
Donkers, Joanne M.;Kooijman, Sander;van de Graaf, Stan F. J.
通讯作者：
van de Graaf, Stan F. J.
影响因子：
29.4
作者：
Erlinger, Serge;Arias, Irwin M.;Dhumeaux, Daniel
通讯作者：
Dhumeaux, Daniel
影响因子：
3.4
作者：
Li, Hua;Deng, Mei;Song, Yuan-Zong
通讯作者：
Song, Yuan-Zong