Keywords
serum amyloid A
amyloidosis AL
nephrotic syndrome
mass spectrometry
How to Cite
Abstract
Introduction: Amyloidosis is a rare disease, resulting from the accumulation and deposition of insoluble proteins in tissues or organs. This disease may involve the kidney, resulting in nephrotic syndrome and renal failure. The amyloidosis has been associated with systemic involvement, with AL amyloidosis and AA amyloidosis being the most common. The last is associated with various inflammatory disorders as chronic infections and autoimmune diseases. A multidisciplinary approach is required to the diagnosis (hematologic, cardiac, autoimmune, infectious, neoplastic) and in cases of renal involvement, a kidney biopsy with complete study of light microscopy, special stains including congo red, immunofluorescence, electron microscopy is essential for diagnosis. In cases where the cause cannot be stablished, mass spectrometry is practical tool to the identification of the correct type of amyloidosis.
Purpose: Here, we present a patient with a chronic and severe abdominal inflammatory process that progressed to a nephrotic syndrome due to AA amyloidosis, in which mass spectrometry helped to clarify the diagnosis.
Case presentation: Here, we present a patient with a chronic and severe abdominal inflammatory process that progressed to a nephrotic syndrome due to AA amyloidosis, in which mass spectrometry helped to clarify the diagnosis.
Discussion and conclusion: Mass spectrometry is considered a useful diagnostic test to confirm the etiology of amyloidosis, especially if other methods are insufficient to establish it.
References
Iadanza MG, Jackson MP, Hewitt EW, Ranson NA, Radford SE. A new era for understanding amyloid structures and disease. Nat Rev Mol Cell Biol. 2018;19(12):755-73. https://doi.org/10.1038/s41580-018-0060-8
Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-54. https://doi.org/10.1016/S0140-6736(15)01274-X
Papa R, Lachmann HJ. Secondary, AA, Amyloidosis. Rheum Dis Clin North Am. 2018;44(4):585-603. https://doi.org/10.1016/j.rdc.2018.06.004
Juneja R, Pati HP. Approach to the Diagnosis of Amyloidosis. Indian J Hematol Blood Transfus. 2020;36(2):246-53. https://doi.org/10.1007/s12288-019-01208-4
Rezk T, Gilbertson JA, Rowczenio D, Bass P, Lachmann HJ, Wechalekar AD, et al. Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis. Nephrol Dial Transplant. 2018;33(2):241-7. https://doi.org/10.1093/ndt/gfw375
Cook J, Muchtar E, Warsame R. Updates in the Diagnosis and Management of AL Amyloidosis. Curr Hematol Malig Rep. 2020;15(3):155-67. https://doi.org/10.1007/s11899-020-00574-5
Gertz MA. Immunoglobulin light chain amyloidosis: 2020 update on diagnosis, prognosis, and treatment. Am J Hematol. 2020;95(7):848-60. https://doi.org/10.1002/ajh.25819
De Buck M, Gouwy M, Wang JM, Van Snick J, Opdenakker G, Struyf S, et al. Structure and Expression of Different Serum Amyloid A (SAA) Variants and their Concentration-Dependent Functions During Host Insults. Curr Med Chem. 2016;23(17):1725-55. https://doi.org/10.2174/0929867323666160418114600
Lane T, Pinney JH, Gilbertson JA, Hutt DF, Rowczenio DM, Mahmood S, et al. Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre. Amyloid. 2017;24(3):162-6. https://doi.org/10.1080/13506129.2017.1342235
Nuvolone M, Merlini G. Systemic amyloidosis: novel therapies and role of biomarkers. Nephrol Dial Transplant. 2017;32(5):770-80. https://doi.org/10.1093/ndt/gfw305
Ahbap E, Kara E, Sahutoglu T, Basturk T, Koc Y, Sakaci T, et al. Outcome of 121 patients with renal amyloid a amyloidosis. J Res Med Sci. 2014;19(7):644-9.
Mohamed N, Nasr SH. Renal Amyloidosis. Surg Pathol Clin. 2014;7(3):409-25. https://doi.org/10.1016/j.path.2014.04.006
Khalighi MA, Dean-Wallace W, Palma-Diaz MF. Amyloid nephropathy. Clin Kidney J. 2014;7(2):97-106. https://doi.org/10.1093/ckj/sfu021
Ayar Y, Ersoy A, Oksuz MF, Ocakoglu G, Vuruskan BA, Yildiz A, et al. Clinical outcomes and survival in AA amyloidosis patients. Rev Bras Reumatol Engl Ed. 2017;57(6):535-44. https://doi.org/10.1016/j.rbr.2016.12.002
Angel-Korman A, Havasi A. Kidney Transplantation in Systemic Amyloidosis. Transplantation. 2020;104(10):2035-47. https://doi.org/10.1097/TP.0000000000003170
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.