Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 30, 2023 - Issue 1
226
Views
1
CrossRef citations to date
0
Altmetric
Research Articles

Natural course and determinants of short-term kidney function decline in hereditary transthyretin amyloidosis: a French observational study

ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, , , , , , , , , , , , , ORCID Icon, ORCID Icon & ORCID Icon show all
Pages 38-48 | Received 10 Jan 2022, Accepted 01 Jul 2022, Published online: 17 Jul 2022

References

  • Sipe JD, Benson MD, Buxbaum JN, et al. Nomenclature 2014: amyloid fibril proteins and clinical classification of the amyloidosis. Amyloid. 2014;21(4):221–224.
  • Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641–2654.
  • Desport E, Bridoux F, Sirac C, Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales, et al. AL amyloidosis. Orphanet J Rare Dis. 2012;7:54.
  • Lachmann HJ, Goodman HJB, Gilbertson JA, et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007;356(23):2361–2371.
  • Ferraro PM, D’Ambrosio V, Di Paolantonio A, et al. Renal involvement in hereditary transthyretin amyloidosis: an Italian single-centre experience. Brain Sci. 2021;11(8):980.
  • Dickson PW, Aldred AR, Marley PD, et al. High prealbumin and transferrin mRNA levels in the choroid plexus of rat brain. Biochem Biophys Res Commun. 1985;127(3):890–895.
  • Ong DE, Davis JT, O'Day WT, et al. Synthesis and secretion of retinol-binding protein and transthyretin by cultured retinal pigment epithelium. Biochemistry. 1994;33(7):1835–1842.
  • Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36(4):411–423.
  • Plante-Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol. 2018;265(4):976–983.
  • Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010;7(7):398–408.
  • Sousa A, Andersson R, Drugge U, et al. Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered. 1993;43(5):288–294.
  • Sousa A, Coelho T, Barros J, et al. Genetic epidemiology of familial amyloidotic polyneuropathy (FAP)-type I in póvoa do varzim and vila do conde (North of Portugal). Am J Med Genet. 1995;60(6):512–521.
  • Kato-Motozaki Y, Ono K, Shima K, et al. Epidemiology of familial amyloid polyneuropathy in Japan: identification of a novel endemic focus. J Neurol Sci. 2008;270(1–2):133–140.
  • Parman Y, Adams D, Obici L, European Network for TTR-FAP (ATTReuNET), et al. Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A european network approach to defining the epidemiology and management patterns for TTR-FAP. Curr Opin Neurol. 2016;29(Suppl 1):S3–S13.
  • Zhen DB, Swiecicki PL, Zeldenrust SR, et al. Frequencies and geographic distributions of genetic mutations in transthyretin- and non-transthyretin-related familial amyloidosis. Clin Genet. 2015;88(4):396–400.
  • Liu G, Ni W, Wang H, et al. Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds. J Peripher Nerv Syst. 2017;22(1):19–26.
  • Rowczenio DM, Noor I, Gillmore JD, et al. Online registry for mutations in hereditary amyloidosis including nomenclature recommendations. Hum Mutat. 2014;35(9):E2403–E2412.
  • Adams D, Koike H, Slama M, et al. Hereditary transthyretin amyloidosis: a model of medical progress for a fatal disease. Nat Rev Neurol. 2019;15(7):387–404.
  • Maurer MS, Hanna M, Grogan M, THAOS Investigators, et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (transthyretin amyloid outcome survey). J Am Coll Cardiol. 2016;68(2):161–172.
  • Lobato L, Rocha A. Transthyretin amyloidosis and the kidney. Clin J Am Soc Nephrol. 2012;7(8):1337–1346.
  • Lang RM, Badano LP, Mor-Avi V, et al. Recommendations for cardiac chamber quantification by echocardiography in adults: an update from the American Society of Echocardiography and the European Association of Cardiovascular Imaging. J Am Soc Echocardiogr. 2015;28(1):1–39.e14.
  • Gillmore JD, Damy T, Fontana M, et al. A new staging system for cardiac transthyretin amyloidosis. Eur Heart J. 2018;39(30):2799–2806.
  • Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404–2412.
  • Damy T, Kristen AV, Suhr OB, et al. Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the transthyretin amyloidosis outcomes survey (THAOS). Eur Heart J. 2019;43(5):391–400.
  • O'Sullivan ED, Hughes J, Ferenbach DA. Renal aging: causes and consequences. J Am Soc Nephrol. 2017;28(2):407–420.
  • Peralta CA, Ziv E, Katz R, et al. African ancestry, socioeconomic status, and kidney function in elderly african americans: a genetic admixture analysis. JASN. 2006;17(12):3491–3496.
  • Adamo L, Perry A, Novak E, et al. Abnormal global longitudinal strain predicts future deterioration of left ventricular function in heart failure patients with a recovered left ventricular ejection fraction. Circ Heart Fail. 2017;10:e003788.
  • Smiseth OA, Torp H, Opdahl A, et al. Myocardial strain imaging: how useful is it in clinical decision making? Eur Heart J. 2016;37(15):1196–1207.
  • Chacko L, Martone R, Bandera F, et al. Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis. Eur Heart J. 2020;41(14):1439–1447.
  • Zhang K, Zhang R, Deych E, et al. Global longitudinal strain is prognostic in light chain and transthyretin cardiac amyloidosis while the apical sparing ratio of longitudinal strain is not. J Am Coll Cardiol. 2020;75(11):1657–1657.
  • Moreira CL, Rocha A, Santos J, et al. The ever-growing understanding of transthyretin amyloidosis nephropathy. Amyloid. 2017;24(sup1):117–118.
  • Lobato L, Beirão I, Monteiro P, et al. Epidemiology and genetic analysis in patients with familial amyloid polyneuropathy (FAP) type I and end-stage renal disease: can we predict kidney involvement? Neuromuscul Disord. 1996;6:S51.
  • Waddington-Cruz M, Schmidt H, Botteman MF, et al. Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series. Orphanet J Rare Dis. 2019;14(1):34.
  • Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain. 1952;75(3):408–427.
  • Rydh A, Suhr O, Hietala SO, et al. Serum amyloid P component scintigraphy in familial amyloid polyneuropathy: regression of visceral amyloid following liver transplantation. Eur J Nucl Med. 1998;25(7):709–713.
  • Snanoudj R, Durrbach A, Gauthier E, et al. Changes in renal function in patients with familial amyloid polyneuropathy treated with orthotopic liver transplantation. Nephrol Dial Transplant. 2004;19(7):1779–1785.
  • Gertz MA, Kyle RA, O'Fallon WM. Dialysis support of patients with primary systemic amyloidosis. A study of 211 patients. Arch Intern Med. 1992;152(11):2245–2250.
  • Bukabau JB, Yayo E, Gnionsahé A, et al. Performance of creatinine- or cystatin C–based equations to estimate glomerular filtration rate in Sub-Saharan african populations. Kidney Int. 2019;95(5):1181–1189.
  • Flamant M, Vidal-Petiot E, Metzger M, NephroTest Study Group, et al. Performance of GFR estimating equations in african europeans: basis for a lower race-ethnicity factor than in african americans. Am J Kidney Dis. 2013;62(1):182–184.
  • Coelho T, Maia LF, Martins da Silva A, et al. Tafamidis for transthyretin familial amyloid polyneuropathy: a randomized, controlled trial. Neurology. 2012;79(8):785–792.
  • Berk JL, Suhr OB, Obici L, et al. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA. 2013;310(24):2658–2667.
  • Adams D, Gonzalez-Duarte A, O’Riordan WD, et al. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):11–21.
  • Benson MD, Waddington-Cruz M, Berk JL, et al. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N Engl J Med. 2018;379(1):22–31.
  • Rocha A, Silva A, Cardoso M, et al. Transthyretin (ATTR) amyloidosis nephropathy: lessons from a TTR stabilizer molecule. Amyloid. 2017;24(sup1):81–82.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.