Abstract
We observed the development of generalized amyloidosis in a girl with glycogen storage disease type Ib (GSD-Ib) who showed neutropenia, neutrophil dysfunction and recurrent infections. Renal and thyroid biopsies showed secondary amyloidosis, characterized by the presence of potassium permanganate sensitive Dylon positive deposits in glomeruli, renal vessels and thyroid interstitium. Immunohistochemistry showed that the deposits were composed of amyloid A (AA) protein. Possibly neutrophil abnormalities are involved in the pathogenesis of amyloidosis.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- AA protein:
-
amyloid A protein
- CRP:
-
C-reactive protein
- DMSO:
-
Dimethyl sulphoxide
- GSD-Ib:
-
glycogen storage disease Ib
- SAA:
-
serum amyloid A protein
References
Beaudet AL, Anderson DC, Michels VV, Arion WJ, Lange AJ (1980) Neutropenia and impaired neutrophil migration in type 1b glycogen storage disease. J Pediatr 97:906–910
Gahr M, Heyne K (1983) Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease 1b. Eur J Pediatr 140:325–330
Glenner GG, Terry W, Harada M, Isersky C, Page D (1971) Amyloid fibril protein: proof of homology with immunoglobulin light chains by sequence analyses. Science 172:1150–1151
Igarashi Y, Kato S, Narisawa K, Tada K (1984) A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type Ib. Biochem Biophys Res Commun 119:593–597
Kirschner BS, Samowits WS (1986) Secondary amyloidosis in Crohn's disease of childhood. J Pediatr Gastroenterol 5:816–821
Lange AJ, Arion WJ, Beaudet AL (1980) Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system. J Biol Chem 255:8381–8384
Levin M, Franklin EC, Frangione B (1972) The amino acid sequence of the major non-immunoglobulin components of some amyloid fibrils. J Clin Invest 51:2773–2776
Narisawa K, Igarashi Y, Otomo H, Tada K (1978) A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system. Biochem Biophys Res Commun 83:1360–1364
Narisawa K, Ishizawa S, Okumura H, Tada K, Kuzuya T (1986) Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type Ib. J Inherited Metab Dis 9:297–300
Ng WG, Roe TF, Connell GN (1983) Disorders of carbohydrate metabolism. In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics. Churchill Livingstone, New York, pp 1267–1285
Ravid M, Shapira J, Lang R, Kedar I (1982) Prolonged dimethylsulfoxide treatment in 13 patients with systemic amyloidosis. Ann Rheum Dis 41:587–592
Roe TF, Thomas DW, Gilsanz V, Isaacs H jr, Atkinson JB (1986) Inflammatory bowel disease in glycogen storage disease type 1b. J Pediatr 109:55–59
Scheinberg MA, Pernambuco JC, Benson MD (1984) DMSO and colchicine therapy in amyloid disease. Ann Rheum Dis 43:421–423
Wright JR, Calkins E, Humphrey RL (1977) Potassium permanganate reaction in amyloidosis. A histologic method to assist in differentiating forms of this disease. Lab Invest 36:274–278
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kikuchi, M., Haginoya, K., Miyabayashi, S. et al. Secondary amyloidosis in glycogen storage disease type Ib. Eur J Pediatr 149, 344–345 (1990). https://doi.org/10.1007/BF02171563
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF02171563