title: 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.
authors.affiliation: Renal Unit , King's College Hospital NHS Foundation Trust , Denmark Hill, London , UK.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Dick
authors.affiliation: Renal Unit , Guy's and St Thomas's NHS Foundation Trust , London , UK.
authors.forename: Nicola
authors.initials: N
authors.lastname: Kumar
authors.affiliation: Department of Histopathology , Guy's and St Thomas's NHS Foundation Trust , London , UK.
authors.forename: Catherine
authors.initials: C
authors.lastname: Horsfield
authors.affiliation: Renal Unit , King's College Hospital NHS Foundation Trust , Denmark Hill, London , UK.
authors.forename: Satish
authors.initials: S
authors.lastname: Jayawardene
keywords: amyloidosis; chronic kidney disease; glycogen storage disorder; proteinuria