Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

Steroid 5β-reductase [aldo-keto reductase family 1 member D1 (AKR1D1)] is essential for bile acid biosynthesis. Bile acid deficiency caused by genetic defects in AKR1D1 leads to life-threatening neonatal hepatitis and cholestasis. There is still limited experience regarding the treatment of this dis...

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Detalles Bibliográficos
Autores principales: Wang, Hui-Hui, Wen, Fei-Qiu, Dai, Dong-Ling, Wang, Jian-She, Zhao, Jing, Setchell, Kenneth DR, Shi, Li-Na, Zhou, Shao-Ming, Liu, Si-Xi, Yang, Qing-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6148433/
https://www.ncbi.nlm.nih.gov/pubmed/30254413
http://dx.doi.org/10.3748/wjg.v24.i35.4086

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