Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations - 06/08/24

Doi : 10.1016/j.clinre.2024.102444

Meifen Wang ^1,^{⁎
These authors contributed equally to the paper.}, Lin Zhou ^2,^{⁎
These authors contributed equally to the paper.}, Qian Zhang ³, Juan Li ⁴, Junchao Peng ¹, Rui Chen ¹, Qi Shao ¹, Zhongrui Bi ¹, Mingying Wang ^4,^⁎ , Jiwei Li ^5,^⁎
¹ Department of Infectious Diseases, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, People's Republic of China
² Department of Nutrition, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, People's Republic of China
³ Department of Clinical Laboratory, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, People's Republic of China
⁴ Department of Gastroenterology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, People's Republic of China
⁵ Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, People's Republic of China

^⁎⁎Corresponding author: Jiwei Li, Deputy chief physician, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Institute of Pediatric Disease Research in Yunnan; Yunnan Key Laboratory of Children's Major Disease Research, 288 Qianxing Road, Kunming 650228, People's Republic of ChinaDeputy chief physician, Kunming Children's HospitalThe Affiliated Children's Hospital of Kunming Medical UniversityInstitute of Pediatric Disease Research in Yunnan; Yunnan Key Laboratory of Children's Major Disease Research288 Qianxing RoadKunming650228People's Republic of China^⁎⁎⁎Mingying Wang, Chief physician, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, 288 Qianxing Road, Kunming 650228, People's Republic of ChinaChief physician, Kunming Children's HospitalThe Affiliated Children's Hospital of Kunming Medical University288 Qianxing RoadKunming650228People's Republic of China

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Keywords : Sodium taurocholate cotransporter polypeptide deficiency, SLC10A1 gene, persistent hypercholanemia, transient cholestatic hepatitis

Abbreviation : NTCPD, SLC10A1, TBIL, DBIL, IBIL, TBA, AST, ALT, TSH, ALP, VD, T3, fT3, CVID, IDD, ALPS

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Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations - 06/08/24

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