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

Abstract

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.

Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a

“…We previously reported that 90% of LS- G6pc −/− mice show marked amyloid deposition in the liver and kidney by 12 months of age ( Resaz et al, 2014 ). Amyloidosis is a complication of GSD, especially type 1b, usually with a renal localization ( Dick et al, 2012 ). The reason for this is not clear, but it is reasonable to speculate that amyloidosis in LS- G6pc −/− mice might be associated with liver inflammation.…”

Development and characterization of an inducible mouse model for glycogen storage disease type Ib

“…It is interesting that the intestine villous axis was packed with globoid cells replete with amyloid. Amyloid is a described complication of GSD1b (Dick et al 2012). A possibility is that intestinal amyloid deposition may be linked to the inflammatory intestinal manifestations observed in this disease, as part of the activation of acute-phase proteins during an inflammatory response.…”

The paradox of autoimmunity and autoinflammation in inherited neutrophil disorders – in search of common patterns

“…This organ-specific autoimmunity in GSD type 1b is in a way standing out from the other described phenotypes in neutrophil disorders that usually have a significant autoinflammatory component. Nevertheless, there are also reports of an autoinflammatory phenotype in GSD type 1b with renal or systemic amyloidosis ( 50 , 51 ).…”