Adult gaucher disease in southern Tunisia: report of three cases
<p>Abstract</p> <p>Background</p> <p>Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2012-01-01
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| Series: | Diagnostic Pathology |
| Subjects: | |
| Online Access: | http://www.diagnosticpathology.org/content/7/1/4 |
| _version_ | 1811316770367078400 |
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| author | Ben Rhouma Faten Kallel Faten Kefi Rym Cherif Wafa Nagara Majdi Azaiez Hela Jedidi Ines Elloumi Moez Abdelhak Sonia Mseddi Sondes |
| author_facet | Ben Rhouma Faten Kallel Faten Kefi Rym Cherif Wafa Nagara Majdi Azaiez Hela Jedidi Ines Elloumi Moez Abdelhak Sonia Mseddi Sondes |
| author_sort | Ben Rhouma Faten |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease.</p> <p>Findings</p> <p>Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.</p> <p>Conclusion</p> <p>The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.</p> |
| first_indexed | 2024-04-13T11:55:17Z |
| format | Article |
| id | doaj.art-9832e2d78d544b21932f6f06514f0d07 |
| institution | Directory Open Access Journal |
| issn | 1746-1596 |
| language | English |
| last_indexed | 2024-04-13T11:55:17Z |
| publishDate | 2012-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Diagnostic Pathology |
| spelling | doaj.art-9832e2d78d544b21932f6f06514f0d072022-12-22T02:47:56ZengBMCDiagnostic Pathology1746-15962012-01-0171410.1186/1746-1596-7-4Adult gaucher disease in southern Tunisia: report of three casesBen Rhouma FatenKallel FatenKefi RymCherif WafaNagara MajdiAzaiez HelaJedidi InesElloumi MoezAbdelhak SoniaMseddi Sondes<p>Abstract</p> <p>Background</p> <p>Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease.</p> <p>Findings</p> <p>Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.</p> <p>Conclusion</p> <p>The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.</p>http://www.diagnosticpathology.org/content/7/1/4AdultGaucher diseasep.N370SParkinsson diseaseTunisia |
| spellingShingle | Ben Rhouma Faten Kallel Faten Kefi Rym Cherif Wafa Nagara Majdi Azaiez Hela Jedidi Ines Elloumi Moez Abdelhak Sonia Mseddi Sondes Adult gaucher disease in southern Tunisia: report of three cases Diagnostic Pathology Adult Gaucher disease p.N370S Parkinsson disease Tunisia |
| title | Adult gaucher disease in southern Tunisia: report of three cases |
| title_full | Adult gaucher disease in southern Tunisia: report of three cases |
| title_fullStr | Adult gaucher disease in southern Tunisia: report of three cases |
| title_full_unstemmed | Adult gaucher disease in southern Tunisia: report of three cases |
| title_short | Adult gaucher disease in southern Tunisia: report of three cases |
| title_sort | adult gaucher disease in southern tunisia report of three cases |
| topic | Adult Gaucher disease p.N370S Parkinsson disease Tunisia |
| url | http://www.diagnosticpathology.org/content/7/1/4 |
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