Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 gene

We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β- hydroxy-Δ5-C27-steroid dehydrogenase (3β- HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of choles...

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Bibliographic Details
Main Authors: Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone
Format: Article
Language:English
Published: MDPI AG 2017-10-01
Series:Pediatric Reports
Subjects:
genetic cholestasis
cholic acid
Online Access:http://www.pagepress.org/journals/index.php/pr/article/view/7266

Internet

http://www.pagepress.org/journals/index.php/pr/article/view/7266

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