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Dick J, Kumar N, Horsfield C, et al. AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease. Clin Kidney J. 2012;5(6):559-61doi: 10.1093/ckj/sfs143.
Dick, J., Kumar, N., Horsfield, C., & Jayawardene, S. (2012). AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease. Clinical kidney journal, 5(6), 559-61. https://doi.org/10.1093/ckj/sfs143
Dick, Jonathan, et al. "AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease." Clinical kidney journal vol. 5,6 (2012): 559-61. doi: https://doi.org/10.1093/ckj/sfs143
Dick J, Kumar N, Horsfield C, Jayawardene S. AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease. Clin Kidney J. 2012 Dec;5(6):559-61. doi: 10.1093/ckj/sfs143. Epub 2012 Nov 04. PMID: 26069801; PMCID: PMC4400565.
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Clin Kidney J. 2012 Dec;5(6):559-61. doi: 10.1093/ckj/sfs143. Epub 2012 Nov 04.

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

Clinical kidney journal

Jonathan Dick, Nicola Kumar, Catherine Horsfield, Satish Jayawardene

Affiliations

  1. Renal Unit , King's College Hospital NHS Foundation Trust , Denmark Hill, London , UK.
  2. Renal Unit , Guy's and St Thomas's NHS Foundation Trust , London , UK.
  3. Department of Histopathology , Guy's and St Thomas's NHS Foundation Trust , London , UK.

PMID: 26069801 PMCID: PMC4400565 DOI: 10.1093/ckj/sfs143

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.

Keywords: amyloidosis; chronic kidney disease; glycogen storage disorder; proteinuria

References

  1. Eur J Pediatr. 1993;152 Suppl 1:S60-2 - PubMed
  2. Liver. 1995 Jun;15(3):164-7 - PubMed
  3. Nefrologia. 2008;28(1):93-8 - PubMed
  4. Am J Surg Pathol. 1988 Jun;12(6):477-83 - PubMed
  5. Nephron. 1997;75(3):350-3 - PubMed
  6. Eur J Pediatr. 1990 Feb;149(5):344-5 - PubMed
  7. Eur J Pediatr. 2002 Oct;161 Suppl 1:S112-9 - PubMed
  8. Eur J Pediatr. 2005 Aug;164(8):501-8 - PubMed
  9. Pediatr Nephrol. 1991 Jan;5(1):71-6 - PubMed
  10. N Engl J Med. 1988 Jan 7;318(1):7-11 - PubMed
  11. Curr Opin Hematol. 2010 Jan;17(1):36-42 - PubMed

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