Retinitis pigmentosa associated with systemic light chain amyloidosis (AL 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...

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Autores principales:	Salem Bouomrani, Fahd Saadaoui, Nour Elhouda Ayadi
Formato:	article
Lenguaje:	EN
Publicado:	Emergency Department of Hospital San Pedro (Logroño, Spain) 2021
Materias:	retinitis pigmentosa light chain amyloidosis al amyloidosis primary amyloidosis Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/8e83e686ba134940979a1a0f5beff8d0
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spelling	oai:doaj.org-article:8e83e686ba134940979a1a0f5beff8d02021-12-02T19:14:48ZRetinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)10.5281/zenodo.46558792695-5075https://doaj.org/article/8e83e686ba134940979a1a0f5beff8d02021-04-01T00:00:00Zhttps://doi.org/10.5281/zenodo.4655879https://doaj.org/toc/2695-5075Retinitis 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.Salem BouomraniFahd SaadaouiNour Elhouda AyadiEmergency Department of Hospital San Pedro (Logroño, Spain)articleretinitis pigmentosalight chain amyloidosisal amyloidosisprimary amyloidosisMedicine (General)R5-920ENIberoamerican Journal of Medicine, Vol 3, Iss 2, Pp 173-175 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	retinitis pigmentosa light chain amyloidosis al amyloidosis primary amyloidosis Medicine (General) R5-920
spellingShingle	retinitis pigmentosa light chain amyloidosis al amyloidosis primary amyloidosis Medicine (General) R5-920 Salem Bouomrani Fahd Saadaoui Nour Elhouda Ayadi Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
description	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.
format	article
author	Salem Bouomrani Fahd Saadaoui Nour Elhouda Ayadi
author_facet	Salem Bouomrani Fahd Saadaoui Nour Elhouda Ayadi
author_sort	Salem Bouomrani
title	Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
title_short	Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
title_full	Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
title_fullStr	Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
title_full_unstemmed	Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
title_sort	retinitis pigmentosa associated with systemic light chain amyloidosis (al amyloidosis)
publisher	Emergency Department of Hospital San Pedro (Logroño, Spain)
publishDate	2021
url	https://doaj.org/article/8e83e686ba134940979a1a0f5beff8d0
work_keys_str_mv	AT salembouomrani retinitispigmentosaassociatedwithsystemiclightchainamyloidosisalamyloidosis AT fahdsaadaoui retinitispigmentosaassociatedwithsystemiclightchainamyloidosisalamyloidosis AT nourelhoudaayadi retinitispigmentosaassociatedwithsystemiclightchainamyloidosisalamyloidosis
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Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)

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