Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts must be directed towards a prompt and correct geneti...

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Autores principales:	Aleksandra Jezela-Stanek, Grazina Kleinotiene, Karolina Chwialkowska, Anna Tylki-Szymańska
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	Gaucher disease NIHF perinatal-lethal Gaucher disease PLGD ichthyosis GBA gene Medicine R
Acceso en línea:	https://doaj.org/article/36b96e973d674a528a2010f579efedfb
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spelling	oai:doaj.org-article:36b96e973d674a528a2010f579efedfb2021-11-11T17:32:36ZDo Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases10.3390/jcm102148902077-0383https://doaj.org/article/36b96e973d674a528a2010f579efedfb2021-10-01T00:00:00Zhttps://www.mdpi.com/2077-0383/10/21/4890https://doaj.org/toc/2077-0383With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts must be directed towards a prompt and correct genetic diagnosis, which offers the only possibility of providing the family with appropriate prevention and treatment. To address this issue, in this article, we present the clinical and genetic hallmarks of the lethal form of Gaucher disease (PLGD) and discuss the potential management. We hope that this will draw attention to its specific manifestations (such as collodion-baby phenotype, ichthyosis, arthrogryposis), which differ from best-known GD complications and ensure appropriate diagnostic assessment to provide families at risk with reliable counselling and treatment to avoid the medical complication of GD.Aleksandra Jezela-StanekGrazina KleinotieneKarolina ChwialkowskaAnna Tylki-SzymańskaMDPI AGarticleGaucher diseaseNIHFperinatal-lethal Gaucher diseasePLGDichthyosisGBA geneMedicineRENJournal of Clinical Medicine, Vol 10, Iss 4890, p 4890 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Gaucher disease NIHF perinatal-lethal Gaucher disease PLGD ichthyosis GBA gene Medicine R
spellingShingle	Gaucher disease NIHF perinatal-lethal Gaucher disease PLGD ichthyosis GBA gene Medicine R Aleksandra Jezela-Stanek Grazina Kleinotiene Karolina Chwialkowska Anna Tylki-Szymańska Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
description	With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts must be directed towards a prompt and correct genetic diagnosis, which offers the only possibility of providing the family with appropriate prevention and treatment. To address this issue, in this article, we present the clinical and genetic hallmarks of the lethal form of Gaucher disease (PLGD) and discuss the potential management. We hope that this will draw attention to its specific manifestations (such as collodion-baby phenotype, ichthyosis, arthrogryposis), which differ from best-known GD complications and ensure appropriate diagnostic assessment to provide families at risk with reliable counselling and treatment to avoid the medical complication of GD.
format	article
author	Aleksandra Jezela-Stanek Grazina Kleinotiene Karolina Chwialkowska Anna Tylki-Szymańska
author_facet	Aleksandra Jezela-Stanek Grazina Kleinotiene Karolina Chwialkowska Anna Tylki-Szymańska
author_sort	Aleksandra Jezela-Stanek
title	Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
title_short	Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
title_full	Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
title_fullStr	Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
title_full_unstemmed	Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases
title_sort	do not miss the (genetic) diagnosis of gaucher syndrome: a narrative review on diagnostic clues and management in severe prenatal and perinatal-lethal sporadic cases
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/36b96e973d674a528a2010f579efedfb
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Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic Cases

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