AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease

Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male with glycogen storage disease type 1b (GSD1b) who was referred to our nephrology service for evaluation of his c...

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Detalles Bibliográficos
Autores principales: Dick, Jonathan, Kumar, Nicola, Horsfield, Catherine, Jayawardene, Satish
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400565/
https://www.ncbi.nlm.nih.gov/pubmed/26069801
http://dx.doi.org/10.1093/ckj/sfs143
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author Dick, Jonathan
Kumar, Nicola
Horsfield, Catherine
Jayawardene, Satish
author_facet Dick, Jonathan
Kumar, Nicola
Horsfield, Catherine
Jayawardene, Satish
author_sort Dick, Jonathan
collection PubMed
description Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male with glycogen storage disease type 1b (GSD1b) who was referred to our nephrology service for evaluation of his chronic kidney disease and found to have AA amyloid deposition on renal biopsy. Amyloid is a described complication of GSD1b. As the treatment of GSD has improved, patients are surviving longer and are now presenting more frequently to adult services. It is important that clinicians are aware of the possible renal complications of GSD1b.
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spelling pubmed-44005652015-06-11 AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease Dick, Jonathan Kumar, Nicola Horsfield, Catherine Jayawardene, Satish Clin Kidney J Original Contributions Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male with glycogen storage disease type 1b (GSD1b) who was referred to our nephrology service for evaluation of his chronic kidney disease and found to have AA amyloid deposition on renal biopsy. Amyloid is a described complication of GSD1b. As the treatment of GSD has improved, patients are surviving longer and are now presenting more frequently to adult services. It is important that clinicians are aware of the possible renal complications of GSD1b. Oxford University Press 2012-12 2012-11-04 /pmc/articles/PMC4400565/ /pubmed/26069801 http://dx.doi.org/10.1093/ckj/sfs143 Text en © The Author 2012. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Original Contributions
Dick, Jonathan
Kumar, Nicola
Horsfield, Catherine
Jayawardene, Satish
AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
title AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
title_full AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
title_fullStr AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
title_full_unstemmed AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
title_short AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
title_sort aa amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
topic Original Contributions
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400565/
https://www.ncbi.nlm.nih.gov/pubmed/26069801
http://dx.doi.org/10.1093/ckj/sfs143
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