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...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Grazia Bossi [verfasserIn] Giuseppe Giordano [verfasserIn] Gaetana Anna Rispoli [verfasserIn] Giuseppe Maggiore [verfasserIn] Mauro Naturale [verfasserIn] Daniela Marchetti [verfasserIn] Maria Iascone [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2017

Schlagwörter:	genetic cholestasis cholic acid

Übergeordnetes Werk:	In: Pediatric Reports - MDPI AG, 2009, 9(2017), 3
Übergeordnetes Werk:	volume:9 ; year:2017 ; number:3

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.4081/pr.2017.7266

Katalog-ID:	DOAJ06237205X

Internformat


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allfieldsGer	10.4081/pr.2017.7266 doi (DE-627)DOAJ06237205X (DE-599)DOAJd507e7c3570c4ba2b5fa25a92937ab8c DE-627 ger DE-627 rakwb eng RJ1-570 Grazia Bossi verfasserin aut 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 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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>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. genetic cholestasis cholic acid Medicine R Pediatrics Giuseppe Giordano verfasserin aut Gaetana Anna Rispoli verfasserin aut Giuseppe Maggiore verfasserin aut Mauro Naturale verfasserin aut Daniela Marchetti verfasserin aut Maria Iascone verfasserin aut In Pediatric Reports MDPI AG, 2009 9(2017), 3 (DE-627)634760505 (DE-600)2572005-3 20367503 nnns volume:9 year:2017 number:3 https://doi.org/10.4081/pr.2017.7266 kostenfrei https://doaj.org/article/d507e7c3570c4ba2b5fa25a92937ab8c kostenfrei http://www.pagepress.org/journals/index.php/pr/article/view/7266 kostenfrei https://doaj.org/toc/2036-749X Journal toc kostenfrei https://doaj.org/toc/2036-7503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2017 3
allfieldsSound	10.4081/pr.2017.7266 doi (DE-627)DOAJ06237205X (DE-599)DOAJd507e7c3570c4ba2b5fa25a92937ab8c DE-627 ger DE-627 rakwb eng RJ1-570 Grazia Bossi verfasserin aut 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 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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>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. genetic cholestasis cholic acid Medicine R Pediatrics Giuseppe Giordano verfasserin aut Gaetana Anna Rispoli verfasserin aut Giuseppe Maggiore verfasserin aut Mauro Naturale verfasserin aut Daniela Marchetti verfasserin aut Maria Iascone verfasserin aut In Pediatric Reports MDPI AG, 2009 9(2017), 3 (DE-627)634760505 (DE-600)2572005-3 20367503 nnns volume:9 year:2017 number:3 https://doi.org/10.4081/pr.2017.7266 kostenfrei https://doaj.org/article/d507e7c3570c4ba2b5fa25a92937ab8c kostenfrei http://www.pagepress.org/journals/index.php/pr/article/view/7266 kostenfrei https://doaj.org/toc/2036-749X Journal toc kostenfrei https://doaj.org/toc/2036-7503 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2017 3
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authorswithroles_txt_mv	Grazia Bossi @@aut@@ Giuseppe Giordano @@aut@@ Gaetana Anna Rispoli @@aut@@ Giuseppe Maggiore @@aut@@ Mauro Naturale @@aut@@ Daniela Marchetti @@aut@@ Maria Iascone @@aut@@
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callnumber-first	R - Medicine
author	Grazia Bossi
spellingShingle	Grazia Bossi misc RJ1-570 misc genetic cholestasis misc cholic acid misc Medicine misc R misc Pediatrics 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
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topic_title	RJ1-570 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 genetic cholestasis cholic acid
topic	misc RJ1-570 misc genetic cholestasis misc cholic acid misc Medicine misc R misc Pediatrics
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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
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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
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author_browse	Grazia Bossi Giuseppe Giordano Gaetana Anna Rispoli Giuseppe Maggiore Mauro Naturale Daniela Marchetti Maria Iascone
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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
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title_auth	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
abstract	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>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.
abstractGer	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>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.
abstract_unstemmed	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>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.
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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
url	https://doi.org/10.4081/pr.2017.7266 https://doaj.org/article/d507e7c3570c4ba2b5fa25a92937ab8c http://www.pagepress.org/journals/index.php/pr/article/view/7266 https://doaj.org/toc/2036-749X https://doaj.org/toc/2036-7503
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up_date	2024-07-04T01:23:49.768Z
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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

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