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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| Format: | Article |
| Language: | English |
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MDPI AG
2021-10-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/21/4890 |
| _version_ | 1797512274434326528 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T05:59:33Z |
| format | Article |
| id | doaj.art-36b96e973d674a528a2010f579efedfb |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T05:59:33Z |
| publishDate | 2021-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-36b96e973d674a528a2010f579efedfb2023-11-22T21:04:12ZengMDPI AGJournal of Clinical Medicine2077-03832021-10-011021489010.3390/jcm10214890Do Not Miss the (Genetic) Diagnosis of Gaucher Syndrome: A Narrative Review on Diagnostic Clues and Management in Severe Prenatal and Perinatal-Lethal Sporadic CasesAleksandra Jezela-Stanek0Grazina Kleinotiene1Karolina Chwialkowska2Anna Tylki-Szymańska3Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Disease, 01-138 Warsaw, PolandFaculty of Medicine, Vilnius University, 01513 Vilnius, LithuaniaCentre for Bioinformatics and Data Analysis, Medical University of Bialystok, 15-089 Bialystok, PolandDepartment of Pediatrics, Nutrition and Metabolic Diseases, Children’s Memorial Health Institute, 04-730 Warsaw, PolandWith 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.https://www.mdpi.com/2077-0383/10/21/4890Gaucher diseaseNIHFperinatal-lethal Gaucher diseasePLGDichthyosisGBA gene |
| spellingShingle | 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 Journal of Clinical Medicine Gaucher disease NIHF perinatal-lethal Gaucher disease PLGD ichthyosis GBA gene |
| 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_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_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_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 |
| topic | Gaucher disease NIHF perinatal-lethal Gaucher disease PLGD ichthyosis GBA gene |
| url | https://www.mdpi.com/2077-0383/10/21/4890 |
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