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

Dick J, Kumar N, Horsfield C, Jayawardene S - Clin Kidney J (2012)

Bottom Line: Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter.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.

View Article: PubMed Central - PubMed

Affiliation: Renal Unit , King's College Hospital NHS Foundation Trust , Denmark Hill, London , UK.

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.

No MeSH data available.


Related in: MedlinePlus

Immunostaining for AA amyloid, ×200 Magnification.
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SFS143F2: Immunostaining for AA amyloid, ×200 Magnification.

Mentions: Light microscopy of the biopsy specimen showed extensive involvement of the renal parenchyma by amyloid with deposition in the mesangial matrix, glomerular capillary wall and the wall of the adjacent arterioles (Figure 1, haematoxylin and eosin stain). This stained with Congo red and fluoresced green under birefringent light. Of thirty, twenty-three glomeruli were sclerosed, and there was ∼40–50% interstitial fibrosis. Immunostaining was positive for serum amyloid A confirming secondary amyloidosis (Figure 2).Fig. 1.


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

Dick J, Kumar N, Horsfield C, Jayawardene S - Clin Kidney J (2012)

Immunostaining for AA amyloid, ×200 Magnification.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4400565&req=5

SFS143F2: Immunostaining for AA amyloid, ×200 Magnification.
Mentions: Light microscopy of the biopsy specimen showed extensive involvement of the renal parenchyma by amyloid with deposition in the mesangial matrix, glomerular capillary wall and the wall of the adjacent arterioles (Figure 1, haematoxylin and eosin stain). This stained with Congo red and fluoresced green under birefringent light. Of thirty, twenty-three glomeruli were sclerosed, and there was ∼40–50% interstitial fibrosis. Immunostaining was positive for serum amyloid A confirming secondary amyloidosis (Figure 2).Fig. 1.

Bottom Line: Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter.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.

View Article: PubMed Central - PubMed

Affiliation: Renal Unit , King's College Hospital NHS Foundation Trust , Denmark Hill, London , UK.

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.

No MeSH data available.


Related in: MedlinePlus