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| Format: | Artículo científico |
| Sprache: | en |
| Veröffentlicht: |
Hospital San Pedro
2021
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| Online-Zugang: | https://www.redalyc.org/articulo.oa?id=692072542011 https://www.redalyc.org/journal/6920/692072542011/ https://www.redalyc.org/journal/6920/692072542011/html/ https://www.redalyc.org/journal/6920/692072542011/692072542011.epub https://www.redalyc.org/journal/6920/692072542011/movil https://doi.org/10.5281/zenodo.4655879 |
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| author | Salem Bouomrani |
| author_facet | Salem Bouomrani |
| contents | Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis) Salem Bouomrani Fahd Saadaoui Nour Elhouda Ayadi Medicina AL amyloidosis Primary amyloidosis Retinitis pigmentosa Light chain amyloidosis Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) or associated with other systemic signs (syndromic RP). Kidney damage is exceptionally reported in patients with RP, particularly in syndromic forms. Association with renal amyloidosis remains unusual with only one reported case of RP and hereditary gelsolin amyloidosis due to a G654A gelsolin mutation defining the new syndrome of Ardalan-Shoja-Kiuru. Apart from this publication, no case associating RP and AL amyloidosis has been found.We report an original case of renal damage revealing kappa-type systemic light chains amyloidosis (AL amyloidosis) in 35-year-old man with sporadic RP. Our observation is, to our knowledge, the first to report this association. 2021 artículo científico 2695-5075 https://www.redalyc.org/articulo.oa?id=692072542011 https://www.redalyc.org/journal/6920/692072542011/ https://www.redalyc.org/journal/6920/692072542011/html/ https://www.redalyc.org/journal/6920/692072542011/692072542011.epub https://www.redalyc.org/journal/6920/692072542011/movil https://doi.org/10.5281/zenodo.4655879 en http://www.redalyc.org/revista.oa?id=6920 Iberoamerican Journal of Medicine application/pdf Hospital San Pedro Iberoamerican Journal of Medicine (España) Num.2 Vol.3 |
| format | Artículo científico |
| id | redalyc_692072542011 |
| language | en |
| publishDate | 2021 |
| publisher | Hospital San Pedro |
| spellingShingle | Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis) Salem Bouomrani Medicina AL amyloidosis Primary amyloidosis Retinitis pigmentosa Light chain amyloidosis Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis) Salem Bouomrani Fahd Saadaoui Nour Elhouda Ayadi Medicina AL amyloidosis Primary amyloidosis Retinitis pigmentosa Light chain amyloidosis Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) or associated with other systemic signs (syndromic RP). Kidney damage is exceptionally reported in patients with RP, particularly in syndromic forms. Association with renal amyloidosis remains unusual with only one reported case of RP and hereditary gelsolin amyloidosis due to a G654A gelsolin mutation defining the new syndrome of Ardalan-Shoja-Kiuru. Apart from this publication, no case associating RP and AL amyloidosis has been found.We report an original case of renal damage revealing kappa-type systemic light chains amyloidosis (AL amyloidosis) in 35-year-old man with sporadic RP. Our observation is, to our knowledge, the first to report this association. 2021 artículo científico 2695-5075 https://www.redalyc.org/articulo.oa?id=692072542011 https://www.redalyc.org/journal/6920/692072542011/ https://www.redalyc.org/journal/6920/692072542011/html/ https://www.redalyc.org/journal/6920/692072542011/692072542011.epub https://www.redalyc.org/journal/6920/692072542011/movil https://doi.org/10.5281/zenodo.4655879 en http://www.redalyc.org/revista.oa?id=6920 Iberoamerican Journal of Medicine application/pdf Hospital San Pedro Iberoamerican Journal of Medicine (España) Num.2 Vol.3 |
| title | Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis) |
| topic | Medicina AL amyloidosis Primary amyloidosis Retinitis pigmentosa Light chain amyloidosis |
| url | https://www.redalyc.org/articulo.oa?id=692072542011 https://www.redalyc.org/journal/6920/692072542011/ https://www.redalyc.org/journal/6920/692072542011/html/ https://www.redalyc.org/journal/6920/692072542011/692072542011.epub https://www.redalyc.org/journal/6920/692072542011/movil https://doi.org/10.5281/zenodo.4655879 |