Urological and Kidney Involvements in Amyloidosis

Nenhuma Miniatura disponível
Citações na Scopus
0
Tipo de produção
bookPart
Data de publicação
2023
DOI
Scopus
Título da Revista
ISSN da Revista
Título do Volume
Editora
SPRINGER INTERNATIONAL PUBLISHING
Autores
Citação
Feitosa, V. A.; Onuchic, L. F.; de Lourdes Noronha, I.. Urological and Kidney Involvements in Amyloidosis. In: . Amyloidosis and Fabry Disease: a Clinical Guide: SPRINGER INTERNATIONAL PUBLISHING, 2023. p.67-82.
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Amyloidosis is a group of disorders in which soluble proteins aggregate and deposit extracellularly in tissues as insoluble fibrils, causing organ dysfunction. Clinical management depends on the subtype of deposited protein and the affected organs. Systemic amyloidosis may stem from anomalous proteins such as immunoglobulin light chains and serum amyloid proteins in chronic inflammatory settings or derive from hereditary disorders. The kidney is the organ most commonly involved in systemic amyloidosis. Renal amyloidosis is characterized by acellular pathologic Congo red-positive deposition of amyloid fibrils in glomeruli, vessels, and/or interstitium. This disease manifests with heavy proteinuria, nephrotic syndrome, and/or progression to end-stage kidney failure. In addition to renal involvement, familial amyloidotic polyneuropathy often leads to urological dysfunction, and primary localized amyloidosis has been reported in the genitourinary tract, including limited deposition in the renal pelvis, ureters, or bladder. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.
Palavras-chave
AA amyloidosis, AL amyloidosis, Hereditary amyloidosis, Localized amyloidosis, Renal amyloidosis, Urinary dysfunction
URI
https://observatorio.fm.usp.br/handle/OPI/57177
Referências
  1. Lachmann H.J., Hawkins P.N., Systemic amyloidosis, Curr Opin Pharmacol, 6, 2, pp. 214-220, (2006)
  2. Rocken C., Sletten K., Amyloid in surgical pathology, Virchows Arch, 443, 1, pp. 3-16, (2003)
  3. Picken M.M., The pathology of amyloidosis in classification: A review, Acta Haematol, pp. 1-13, (2020)
  4. Tang W., McDonald S.P., Hawley C.M., Badve S.V., Boudville N., Brown F.G., Et al., End-stage renal failure due to amyloidosis: Outcomes in 490 ANZDATA registry cases, Nephrol Dial Transplant, 28, 2, pp. 455-461, (2013)
  5. Wechalekar A.D., Gillmore J.D., Hawkins P.N., Systemic amyloidosis, Lancet, 387, 10038, pp. 2641-2654, (2016)
  6. Hassen M., Bates W., Moosa M.R., Pattern of renal amyloidosis in South Africa, BMC Nephrol, 20, 1, (2019)
  7. Said S.M., Sethi S., Valeri A.M., Leung N., Cornell L.D., Fidler M.E., Et al., Renal amyloido-sis: Origin and clinicopathologic correlations of 474 recent cases, Clin J Am Soc Nephrol, 8, 9, pp. 1515-1523, (2013)
  8. Meyer L., Ulrich M., Ducloux D., Garrigue V., Vigneau C., Nochy D., Et al., Organ transplantation in hereditary fibrinogen a α-chain amyloidosis: A case series of French patients, Am J Kidney Dis, 76, 3, pp. 384-391, (2020)
  9. Stangou A.J., Banner N.R., Hendry B.M., Rela M., Portmann B., Wendon J., Et al., Hereditary fibrinogen a alpha-chain amyloidosis: Phenotypic characterization of a systemic disease and the role ofliver transplantation, Blood, 115, 15, pp. 2998-3007, (2010)
  10. Dember L.M., Amyloidosis-associated kidney disease, J Am Soc Nephrol, 17, 12, pp. 3458-3471, (2006)
  11. Merlini G., Bellotti V., Molecular mechanisms of amyloidosis, N Engl J Med, 349, 6, pp. 583-596, (2003)
  12. Herrera G.A., Teng J., Turbat-Herrera E.A., Zeng C., Del Pozo-Yauner L., Understanding mesan-gial pathobiology in AL-amyloidosis and Monoclonal Ig light chain deposition disease, Kidney Int Rep, 5, 11, pp. 1870-1893, (2020)
  13. Ozawa M., Komatsuda A., Ohtani H., Nara M., Sato R., Togashi M., Et al., Long-term prognosis of AL and AA renal amyloidosis: A Japanese single-center experience, Clin Exp Nephrol, 21, 2, pp. 212-227, (2017)
  14. Yadav P., Leung N., Sanders P.W., Cockwell P., The use of immunoglobulin light chain assays in the diagnosis of paraprotein-related kidney disease, Kidney Int, 87, 4, pp. 692-697, (2015)
  15. Milani P., Merlini G., Palladini G., Light chain amyloidosis, Mediterr J Hematol Infect Dis, 10, 1, (2018)
  16. Sethi S., Theis J.D., Pathology and diagnosis of renal non-AL amyloidosis, J Nephrol, 31, 3, pp. 343-350, (2018)
  17. Sethi S., Vrana J.A., Theis J.D., Leung N., Sethi A., Nasr S.H., Et al., Laser microdissection and mass spectrometry-based proteomics aids the diagnosis and typing of renal amyloidosis, Kidney Int, 82, 2, pp. 226-234, (2012)
  18. Benson M.D., Buxbaum J.N., Eisenberg D.S., Merlini G., Saraiva M.J.M., Sekijima Y., Et al., Amyloid nomenclature 2020: Update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee, Amyloid, 27, 4, pp. 217-222, (2020)
  19. Bergesio F., Ciciani A.M., Manganaro M., Palladini G., Santostefano M., Brugnano R., Et al., Renal involvement in systemic amyloidosis: An Italian collaborative study on survival and renal outcome, Nephrol Dial Transplant, 23, 3, pp. 941-951, (2008)
  20. Hogan J.J., Alexander M.P., Leung N., Dysproteinemia and the kidney: Core curriculum 2019, Am J Kidney Dis, 74, 6, pp. 822-836, (2019)
  21. Lachmann H.J., Goodman H.J., Gilbertson J.A., Gallimore J.R., Sabin C.A., Gillmore J.D., Et al., Natural history and outcome in systemic AA amyloidosis, N Engl J Med, 356, 23, pp. 2361-2371, (2007)
  22. Real de Asua D., Costa R., Galvan J.M., Filigheddu M.T., Trujillo D., Cadinanos J., Systemic AA amyloidosis: Epidemiology, diagnosis, and management, Clin Epidemiol, 6, pp. 369-377, (2014)
  23. Benson M.D., James S., Scott K., Liepnieks J.J., Kluve-Beckerman B., Leukocyte chemotactic factor 2: A novel renal amyloid protein, Kidney Int, 74, 2, pp. 218-222, (2008)
  24. Said S.M., Sethi S., Valeri A.M., Chang A., Nast C.C., Krahl L., Et al., Characterization and outcomes of renal leukocyte chemotactic factor 2-associated amyloidosis, Kidney Int, 86, 2, pp. 370-377, (2014)
  25. Rowczenio D.M., Noor I., Gillmore J.D., Lachmann H.J., Whelan C., Hawkins P.N., Et al., Online registry for mutations in hereditary amyloidosis including nomenclature recommendations, Hum Mutat, 35, 9, pp. E2403-E2412, (2014)
  26. Lachmann H.J., Booth D.R., Booth S.E., Bybee A., Gilbertson J.A., Gillmore J.D., Et al., Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis, N Engl J Med, 346, 23, pp. 1786-1791, (2002)
  27. Murphy C.L., Eulitz M., Hrncic R., Sletten K., Westermark P., Williams T., Et al., Chemical typing of amyloid protein contained in formalin-fixed paraffin-embedded biopsy specimens, Am J Clin Pathol, 116, 1, pp. 135-112, (2001)
  28. Comenzo R.L., Zhou P., Fleisher M., Clark B., Teruya-Feldstein J., Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: Patients can have both monoclonal gammopathies and hereditary amyloid proteins, Blood, 107, 9, pp. 3489-3491, (2006)
  29. Chapman J., Dogan A., Fibrinogen alpha amyloidosis: Insights from proteomics, Expert Rev Proteomics, 16, 9, pp. 783-793, (2019)
  30. Machado J.R., Silva M.V., Neves P.D., Oliveira F.A., Correa R.R., Rodrigues W.V., Et al., Fibrinogen a alpha-chain amyloidosis: Report of the first case in Latin America, Amyloid, 20, 1, pp. 52-55, (2013)
  31. Hofer P.A., Anderson R., Postmortem findings in primary familial amyloidosis with polyneu-ropathy, Acta Pathol Microbiol Scand A, 83, 3, pp. 309-322, (1975)
  32. von Hutten H., Mihatsch M., Lobeck H., Rudolph B., Eriksson M., Rocken C., Prevalence and origin of amyloid in kidney biopsies, Am J Surg Pathol, 33, 8, pp. 1198-1205, (2009)
  33. Lobato L., Beirao I., Silva M., Bravo F., Silvestre F., Guimaraes S., Et al., Familial ATTR amyloidosis: Microalbuminuria as a predictor of symptomatic disease and clinical nephropathy, Nephrol Dial Transplant, 18, 3, pp. 532-538, (2003)
  34. Lobato L., Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M), J Nephrol, 16, 3, pp. 438-442, (2003)
  35. Pepys M.B., Hawkins P.N., Booth D.R., Vigushin D.M., Tennent G.A., Soutar A.K., Et al., Human lyso-zyme gene mutations cause hereditary systemic amyloidosis, Nature, 362, 6420, pp. 553-557, (1993)
  36. Granel B., Valleix S., Serratrice J., Cherin P., Texeira A., Disdier P., Et al., Lysozyme amyloido-sis: Report of 4 cases and a review of the literature, Medicine (Baltimore), 85, 1, pp. 66-73, (2006)
  37. Sattianayagam P.T., Gibbs S.D., Rowczenio D., Pinney J.H., Wechalekar A.D., Gilbertson J.A., Et al., Hereditary lysozyme amyloidosis—phenotypic heterogeneity and the role of solid organ transplantation, J Intern Med, 272, 1, pp. 36-14, (2012)
  38. Persey M.R., Booth D.R., Booth S.E., van Zyl-Smit R., Adams B.K., Fattaar A.B., Et al., Hereditary nephropathic systemic amyloidosis caused by a novel variant apolipoprotein A-I, Kidney Int, 53, 2, pp. 276-281, (1998)
  39. Yazaki M., Liepnieks J.J., Barats M.S., Cohen A.H., Benson M.D., Hereditary systemic amyloi-dosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg, Kidney Int, 64, 1, pp. 11-16, (2003)
  40. Sethi S., Dasari S., Plaisier E., Ronco P., Nasr S.H., Brocheriou I., Et al., Apolipoprotein CII amy-loidosis associated with p.Lys41Thr mutation, Kidney Int Rep, 3, 5, pp. 1193-1201, (2018)
  41. Morizane R., Monkawa T., Konishi K., Hashiguchi A., Ueda M., Ando Y., Et al., Renal amyloidosis caused by apolipoprotein A-II without a genetic mutation in the coding sequence, Clin Exp Nephrol, 15, 5, pp. 774-779, (2011)
  42. Valleix S., Verona G., Jourde-Chiche N., Nedelec B., Mangione P.P., Bridoux F., Et al., D25V apo-lipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile, Nat Commun, 7, (2016)
  43. Gupta N., Kaur H., Wajid S., Renal amyloidosis: An update on diagnosis and pathogenesis, Protoplasma, 257, 5, pp. 1259-1276, (2020)
  44. Schmidt E.K., Mustonen T., Kiuru-Enari S., Kivela T.T., Atula S., Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study, Orphanet J Rare Dis, 15, 1, (2020)
  45. Yamanaka S., Miyazaki Y., Kasai K., Ikeda S., Kiuru-Enari S., Hosoya T., Hereditary renal amyloi-dosis caused by a heterozygous G654A gelsolin mutation: A report of two cases, Clin Kidney J, 6, 2, pp. 189-193, (2013)
  46. Novak L., Cook W.J., Herrera G.A., Sanders P.W., AL-amyloidosis is underdiagnosed in renal biopsies, Nephrol Dial Transplant, 19, 12, pp. 3050-3053, (2004)
  47. Gillmore J.D., Lachmann H.J., Rowczenio D., Gilbertson J.A., Zeng C.H., Liu Z.H., Et al., Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen a alpha-chain amyloidosis, J Am Soc Nephrol, 20, 2, pp. 444-451, (2009)
  48. Herrera G.A., Renal amyloidosis with emphasis on the diagnostic role of electron microscopy, Ultrastruct Pathol, 44, 4-6, pp. 325-341, (2020)
  49. Paueksakon P., Fogo A.B., Sethi S., Leukocyte chemotactic factor 2 amyloidosis cannot be reliably diagnosed by immunohistochemical staining, Hum Pathol, 45, 7, pp. 1445-1450, (2014)
  50. Gonzalez Suarez M.L., Zhang P., Nasr S.H., Sathick I.J., Kittanamongkolchai W., Kurtin P.J., Et al., The sensitivity and specificity of the routine kidney biopsy immunofluorescence panel are inferior to diagnosing renal immunoglobulin-derived amyloidosis by mass spectrometry, Kidney Int, 96, 4, pp. 1005-1009, (2019)
  51. Gurung R., Li T., Renal amyloidosis: Presentation, diagnosis, and management, Am J Med, (2022)
  52. Law S., Cohen O., Lachmann H.J., Rezk T., Gilbertson J.A., Rowczenio D., Et al., Renal transplant outcomes in amyloidosis, Nephrol Dial Transplant, 36, 2, pp. 355-365, (2021)
  53. Palladini G., Hegenbart U., Milani P., Kimmich C., Foli A., Ho A.D., Et al., A staging system for renal outcome and early markers of renal response to chemotherapy in AL amyloidosis, Blood, 124, 15, pp. 2325-2332, (2014)
  54. Charitaki E., Kastritis E., Petraki C., Liapis K., Adamidis K., Apostolou T., Et al., Glomerular expression of matrix metalloproteinases in AL-amyloidosis and association with renal function at the time of kidney biopsy, Clin Nephrol, 85, 1, pp. 44-54, (2016)
  55. Drosou M.E., Vaughan L.E., Muchtar E., Buadi F.K., Dingli D., Dispenzieri A., Et al., Comparison of the current renal staging, progression and response criteria to predict renal survival in AL amyloidosis using a Mayo cohort, Am J Hematol, 96, 4, pp. 446-454, (2021)
  56. Kastritis E., Gavriatopoulou M., Roussou M., Migkou M., Fotiou D., Ziogas D.C., Et al., Renal outcomes in patients with AL amyloidosis: Prognostic factors, renal response and the impact of therapy, Am J Hematol, 92, 7, pp. 632-639, (2017)
  57. Kastritis E., Palladini G., Minnema M.C., Wechalekar A.D., Jaccard A., Lee H.C., Et al., Daratumumab-based treatment for immunoglobulin light-chain amyloidosis, N Engl J Med, 385, 1, pp. 46-58, (2021)
  58. Rezk T., Gilbertson J.A., Rowczenio D., Bass P., Lachmann H.J., Wechalekar A.D., Et al., Diagnosis, pathogenesis and outcome in leucocyte chemotactic factor 2 (ALECT2) amyloidosis, Nephrol Dial Transplant, 33, 2, pp. 241-247, (2018)
  59. Bentellis I., Amarenco G., Game X., Jericevic D., El-Akri M., Voiry C., Et al., Diagnosis and treatment of urinary and sexual dysfunction in hereditary TTR amyloidosis, Clin Auton Res, 29, pp. 65-74, (2019)
  60. Andrade M.J., Lower urinary tract dysfunction in familial amyloidotic polyneuropathy, Portuguese type, Neurourol Urodyn, 28, 1, pp. 26-32, (2009)
  61. Adams D., Koike H., Slama M., Coelho T., Hereditary transthyretin amyloidosis: A model of medical progress for a fatal disease, Nat Rev Neurol, 15, 7, pp. 387-404, (2019)
  62. Al-Obaidy K.I., Grignon D.J., Primary amyloidosis of the genitourinary tract, Arch Pathol Lab Med, 145, 6, pp. 699-703, (2021)
  63. Monge M., Chauveau D., Cordonnier C., Noel L.H., Presne C., Makdassi R., Et al., Localized amyloidosis of the genitourinary tract: Report of 5 new cases and review of the literature, Medicine (Baltimore), 90, 3, pp. 212-222, (2011)

Coleções
Livros e Capítulos de Livros - FM/MCM
Livros e Capítulos de Livros - HC/ICHC
Livros e Capítulos de Livros - LIM/29