Gaucher Disease in Internal Medicine and Dentistry
Gaucher disease (GD) is a lysosomal storage pathological condition, characterized by a genetic autosomal recessive transmission. The GD cause is the mutation of GBA1 gene, located on the chromosome 1 (1q21), that induces the deficiency of the lysosomal enzyme glucocerebrosidase with consequent abnor...
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MDPI AG
2023-03-01
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| Series: | Applied Sciences |
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| Online Access: | https://www.mdpi.com/2076-3417/13/6/4062 |
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| author | Michele Basilicata Giulia Marrone Manuela Di Lauro Eleonora Sargentini Vincenza Paolino Redan Hassan Giuseppe D’Amato Patrizio Bollero Annalisa Noce |
| author_facet | Michele Basilicata Giulia Marrone Manuela Di Lauro Eleonora Sargentini Vincenza Paolino Redan Hassan Giuseppe D’Amato Patrizio Bollero Annalisa Noce |
| author_sort | Michele Basilicata |
| collection | DOAJ |
| description | Gaucher disease (GD) is a lysosomal storage pathological condition, characterized by a genetic autosomal recessive transmission. The GD cause is the mutation of GBA1 gene, located on the chromosome 1 (1q21), that induces the deficiency of the lysosomal enzyme glucocerebrosidase with consequent abnormal storage of its substrate (glucosylceramide), in macrophages. The GD incidence in the general population varies from 1:40,000 to 1:60,000 live births, but it is higher in the Ashkenazi Jewish ethnicity (1:800 live births). In the literature, five different types of GD are described: type 1, the most common clinical variant in Europe and USA (90%), affects the viscera; type 2, characterized by visceral damage and severe neurological disorders; type 3, in which the neurological manifestations are variable; cardiovascular type; and, finally, perinatal lethal type. The most affected tissues and organs are the hematopoietic system, liver, bone tissue, nervous system, lungs, cardiovascular system and kidneys. Another aspect of GD is represented by oral and dental manifestations. These can be asymptomatic or cause the spontaneous bleeding, the post oral surgery infections and the bone involvement of both arches through the Gaucher cells infiltration into the maxilla and mandibular regions. The pharmacological treatment of choice is the enzyme replacement therapy, but the new pharmacological frontiers are represented by oral substrate reduction therapy, chaperone therapy, allogeneic hematopoietic stem cell transplantation and gene therapy. |
| first_indexed | 2024-03-11T06:58:02Z |
| format | Article |
| id | doaj.art-e0ea9cf5becc476e86b8b5ce14d0ea8b |
| institution | Directory Open Access Journal |
| issn | 2076-3417 |
| language | English |
| last_indexed | 2024-03-11T06:58:02Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Applied Sciences |
| spelling | doaj.art-e0ea9cf5becc476e86b8b5ce14d0ea8b2023-11-17T09:30:57ZengMDPI AGApplied Sciences2076-34172023-03-01136406210.3390/app13064062Gaucher Disease in Internal Medicine and DentistryMichele Basilicata0Giulia Marrone1Manuela Di Lauro2Eleonora Sargentini3Vincenza Paolino4Redan Hassan5Giuseppe D’Amato6Patrizio Bollero7Annalisa Noce8UOSD Special Care Dentistry, Policlinico Tor Vergata, 00133 Rome, ItalyDepartment of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, ItalyDepartment of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, ItalyDepartment of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, ItalyUOSD Special Care Dentistry, Policlinico Tor Vergata, 00133 Rome, ItalyGeneral Surgery and Organ Transplantation Unit, Department of General and Specialistic Surgery “Paride Stefanini”, AOU Policlinico Umberto I, University of Rome Sapienza, 00185 Rome, ItalyUnicamillus International University of Health and Medical Sciences, 00131 Rome, ItalyUOSD Special Care Dentistry, Policlinico Tor Vergata, 00133 Rome, ItalyDepartment of Systems Medicine, University of Rome Tor Vergata, 00133 Rome, ItalyGaucher disease (GD) is a lysosomal storage pathological condition, characterized by a genetic autosomal recessive transmission. The GD cause is the mutation of GBA1 gene, located on the chromosome 1 (1q21), that induces the deficiency of the lysosomal enzyme glucocerebrosidase with consequent abnormal storage of its substrate (glucosylceramide), in macrophages. The GD incidence in the general population varies from 1:40,000 to 1:60,000 live births, but it is higher in the Ashkenazi Jewish ethnicity (1:800 live births). In the literature, five different types of GD are described: type 1, the most common clinical variant in Europe and USA (90%), affects the viscera; type 2, characterized by visceral damage and severe neurological disorders; type 3, in which the neurological manifestations are variable; cardiovascular type; and, finally, perinatal lethal type. The most affected tissues and organs are the hematopoietic system, liver, bone tissue, nervous system, lungs, cardiovascular system and kidneys. Another aspect of GD is represented by oral and dental manifestations. These can be asymptomatic or cause the spontaneous bleeding, the post oral surgery infections and the bone involvement of both arches through the Gaucher cells infiltration into the maxilla and mandibular regions. The pharmacological treatment of choice is the enzyme replacement therapy, but the new pharmacological frontiers are represented by oral substrate reduction therapy, chaperone therapy, allogeneic hematopoietic stem cell transplantation and gene therapy.https://www.mdpi.com/2076-3417/13/6/4062Gaucher diseasebonejawkidneyeruptive delayradiographic signs |
| spellingShingle | Michele Basilicata Giulia Marrone Manuela Di Lauro Eleonora Sargentini Vincenza Paolino Redan Hassan Giuseppe D’Amato Patrizio Bollero Annalisa Noce Gaucher Disease in Internal Medicine and Dentistry Applied Sciences Gaucher disease bone jaw kidney eruptive delay radiographic signs |
| title | Gaucher Disease in Internal Medicine and Dentistry |
| title_full | Gaucher Disease in Internal Medicine and Dentistry |
| title_fullStr | Gaucher Disease in Internal Medicine and Dentistry |
| title_full_unstemmed | Gaucher Disease in Internal Medicine and Dentistry |
| title_short | Gaucher Disease in Internal Medicine and Dentistry |
| title_sort | gaucher disease in internal medicine and dentistry |
| topic | Gaucher disease bone jaw kidney eruptive delay radiographic signs |
| url | https://www.mdpi.com/2076-3417/13/6/4062 |
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