Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations - 08/08/24
Doi : 10.1016/j.clinre.2024.102444
Meifen Wang a, 1, Lin Zhou b, 1, Qian Zhang c, Juan Li d, Junchao Peng a, Rui Chen a, Qi Shao a, Zhongrui Bi a, Mingying Wang d, ⁎ 
, Jiwei Li e, ⁎
, Jiwei Li e, ⁎ a 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, PR China
b 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, PR China
c 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, PR China
d 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, PR China
e 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, PR China
⁎Corresponding authors at: Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, 288 Qianxing Road, Kunming 650228, PR China.Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease288 Qianxing RoadKunming650228PR China
Keywords : Sodium taurocholate cotransporter polypeptide deficiency, SLC10A1 gene, Persistent hypercholanemia, Transient cholestatic hepatitis
Abbreviations : NTCPD, SLC10A1, TBIL, DBIL, IBIL, TBA, AST, ALT, TSH, ALP, VD, T3, fT3, CVID, IDD, ALPS
Le texte complet de cet article est disponible en PDF.
Plan
© 2024
Publié par Elsevier Masson SAS.
Vol 48 - N° 8
Article 102444- octobre 2024 Retour au numéro
Article précédent
- Association of congenital hepatic fibrosis and Caroli's syndrome: Two illustrative cases
- Meifen Wang, Xiaomei Liu, Chuanfu Qiao, Rui Chen, Jintao Duan, Rong Zeng, Jiwei Li
- DRESS syndrome associated with a hemophagocytic lympho-histiocytosis: A rare presentation of DILI induced by a nutritional supplement
- Tibo Lemmens, Mylène Sebagh, Eleonora De Martin, le reseau d’étude francophone de l'hépatotoxicité des produits de santé (REFHEPS)
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?