Burning Feet, Dilated Heart and Failed Kidneys

Fabry's disease, X-linked lysosomal storage disease, results from deficient activity of alpha galactosidaseA (α-GalA). Renal manifestation usually begins at third decade of life. We report a 16 year male with initial presentation with end stage renal disease (ESRD) and the diagnosis confirmed b...

Descripción completa

Detalles Bibliográficos
Autores principales: Yadav, S. P., Abraham, A., Nadig, R., Vasudevan, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755931/
https://www.ncbi.nlm.nih.gov/pubmed/31571744
http://dx.doi.org/10.4103/ijn.IJN_35_18
_version_ 1783453318852378624
author Yadav, S. P.
Abraham, A.
Nadig, R.
Vasudevan, A.
author_facet Yadav, S. P.
Abraham, A.
Nadig, R.
Vasudevan, A.
author_sort Yadav, S. P.
collection PubMed
description Fabry's disease, X-linked lysosomal storage disease, results from deficient activity of alpha galactosidaseA (α-GalA). Renal manifestation usually begins at third decade of life. We report a 16 year male with initial presentation with end stage renal disease (ESRD) and the diagnosis confirmed by presence of myeloid bodies on electron microscopy of kidney biopsy and low serum α-GalA level.
format Online
Article
Text
id pubmed-6755931
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Wolters Kluwer - Medknow
record_format MEDLINE/PubMed
spelling pubmed-67559312019-09-30 Burning Feet, Dilated Heart and Failed Kidneys Yadav, S. P. Abraham, A. Nadig, R. Vasudevan, A. Indian J Nephrol Case Report Fabry's disease, X-linked lysosomal storage disease, results from deficient activity of alpha galactosidaseA (α-GalA). Renal manifestation usually begins at third decade of life. We report a 16 year male with initial presentation with end stage renal disease (ESRD) and the diagnosis confirmed by presence of myeloid bodies on electron microscopy of kidney biopsy and low serum α-GalA level. Wolters Kluwer - Medknow 2019 /pmc/articles/PMC6755931/ /pubmed/31571744 http://dx.doi.org/10.4103/ijn.IJN_35_18 Text en Copyright: © 2019 Indian Journal of Nephrology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Yadav, S. P.
Abraham, A.
Nadig, R.
Vasudevan, A.
Burning Feet, Dilated Heart and Failed Kidneys
title Burning Feet, Dilated Heart and Failed Kidneys
title_full Burning Feet, Dilated Heart and Failed Kidneys
title_fullStr Burning Feet, Dilated Heart and Failed Kidneys
title_full_unstemmed Burning Feet, Dilated Heart and Failed Kidneys
title_short Burning Feet, Dilated Heart and Failed Kidneys
title_sort burning feet, dilated heart and failed kidneys
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6755931/
https://www.ncbi.nlm.nih.gov/pubmed/31571744
http://dx.doi.org/10.4103/ijn.IJN_35_18
work_keys_str_mv AT yadavsp burningfeetdilatedheartandfailedkidneys
AT abrahama burningfeetdilatedheartandfailedkidneys
AT nadigr burningfeetdilatedheartandfailedkidneys
AT vasudevana burningfeetdilatedheartandfailedkidneys

Ejemplares similares