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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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
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spelling doaj-d507e7c3570c4ba2b5fa25a92937ab8c2021-01-02T14:10:19ZengMDPI AGPediatric Reports2036-749X2036-75032017-10-019310.4081/pr.2017.72663809Atypical 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 geneGrazia Bossi0Giuseppe Giordano1Gaetana Anna Rispoli2Giuseppe Maggiore3Mauro Naturale4Daniela Marchetti5Maria Iascone6Pediatric Department, IRCCS Foundation Policlinico San Matteo, PaviaMass Spectrometry Laboratory, Women’s and Children’s Health Department, University of Padua, Institute for Pediatric Research (IRP), PaduaDepartment of Radiology, US Pediatric Radiology, IRCCS Foundation Policlinico San Matteo, PaviaDepartment of Medical Science, Pediatric Section, University of FerraraMass Spectrometry Laboratory, Women’s and Children’s Health Department, University of Padua, Institute for Pediatric Research (IRP), PaduaLaboratory of Genetic Medicine, ASST Papa Giovanni XXIII, BergamoLaboratory of Genetic Medicine, ASST Papa Giovanni XXIII, BergamoWe 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 cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). <em>HSDH3B7</em> gene analysis identified one mutation in intron 4, at nucleotide 432, G&gt;A substitution that has never been reported before.The replacement therapy with oral cholic acid started early after the diagnosis and is still ongoing. Three years later hepatomegaly is no longer evident, liver function is normal and the child is growing regularly. In our experience, clinical features of 3β-HSD deficiency can be very poor and even cholestasis can lack at diagnosis. Early replacement therapy with cholic acid is safe and leads to clinical and biochemical control of the disease.http://www.pagepress.org/journals/index.php/pr/article/view/7266genetic cholestasischolic acid
collection DOAJ
language English
format Article
sources DOAJ
author Grazia Bossi
Giuseppe Giordano
Gaetana Anna Rispoli
Giuseppe Maggiore
Mauro Naturale
Daniela Marchetti
Maria Iascone
spellingShingle Grazia Bossi
Giuseppe Giordano
Gaetana Anna Rispoli
Giuseppe Maggiore
Mauro Naturale
Daniela Marchetti
Maria Iascone
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
Pediatric Reports
genetic cholestasis
cholic acid
author_facet Grazia Bossi
Giuseppe Giordano
Gaetana Anna Rispoli
Giuseppe Maggiore
Mauro Naturale
Daniela Marchetti
Maria Iascone
author_sort Grazia Bossi
title 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
title_short 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_sort 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
publisher MDPI AG
series Pediatric Reports
issn 2036-749X
2036-7503
publishDate 2017-10-01
description 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 cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). <em>HSDH3B7</em> gene analysis identified one mutation in intron 4, at nucleotide 432, G&gt;A substitution that has never been reported before.The replacement therapy with oral cholic acid started early after the diagnosis and is still ongoing. Three years later hepatomegaly is no longer evident, liver function is normal and the child is growing regularly. In our experience, clinical features of 3β-HSD deficiency can be very poor and even cholestasis can lack at diagnosis. Early replacement therapy with cholic acid is safe and leads to clinical and biochemical control of the disease.
topic genetic cholestasis
cholic acid
url http://www.pagepress.org/journals/index.php/pr/article/view/7266
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