Einzeltreffer — DigiBib

Objectives: This study aimed to evaluate the clinical, laboratory and genetic characteristics and outcomes of patients with AA amyloidosis.

Methods: Patients followed up in a tertiary referral centre in Turkey with the diagnosis of inflammatory rheumatic diseases and immunohistologically proven AA amyloidosis were included in the study and retrospectively analysed.

Results: Among 184 patients with the diagnosis of AA amyloidosis, 174 (83 female, 91 male) were included in the analysis. The most common cause of AA amyloidosis was FMF (78.7%), and 91% of FMF-AA amyloidosis patients were carrying the p.M694V variant (74.1% homozygous). AA amyloidosis was identified earlier in patients with homozygous or compound heterozygous MEFV exon 10 variants compared with the heterozygous patients (27, 30 and 41 years, respectively). Patients with an estimated glomerular filtration rate <60 ml/min at admission had a higher frequency of progression to end-stage renal disease (P < 0.001). The overall mortality rate was 15.3% and it increased gradually in association with the amyloid burden (10% in patients with renal, 15% in renal + gastrointestinal and 43% in those with additional cardiac involvement). Renal findings responded completely to treatment in 31% of the patients, a partial response was observed in 4%, a stable course in 23.6% and progression in 38.5%. Amyloid storm was identified in nine patients and was found to be associated with increased mortality within 1 year.

Conclusion: FMF patients still constitute the majority of AA amyloidosis patients in Turkey. The MEFV genotype and associated inflammatory load may affect the age of onset of AA amyloidosis, and earlier diagnosis and stricter follow-up and treatment may delay progression of the disease.

Titel:	Characteristics and course of patients with AA amyloidosis: single centre experience with 174 patients from Turkey.
Autor/in / Beteiligte Person:	Bektas, M ; Koca, N ; Oguz, E ; Sari, S ; Dagci, G ; Ince, B ; Ozer, PK ; Agargun, BF ; Yalcinkaya, Y ; Artim-Esen, B ; Ocal, L ; Inanc, M ; Gul, A
Zeitschrift:	Rheumatology (Oxford, England), Jg. 63 (2024-02-01), Heft 2, S. 319-328
Veröffentlichung:	Oxford, UK : Avenel, N.J. : Oxford University Press ; Distributed by Mercury International, c1999-, 2024
Medientyp:	academicJournal
ISSN:	1462-0332 (electronic)
DOI:	10.1093/rheumatology/kead465
Schlagwort:	Humans Male Female Retrospective Studies Turkey epidemiology Pyrin genetics Mutation Serum Amyloid A Protein Familial Mediterranean Fever diagnosis Familial Mediterranean Fever genetics Familial Mediterranean Fever complications Amyloidosis
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Rheumatology (Oxford)] 2024 Feb 01; Vol. 63 (2), pp. 319-328. MeSH Terms: Familial Mediterranean Fever* / diagnosis ; Familial Mediterranean Fever* / genetics ; Familial Mediterranean Fever* / complications ; Amyloidosis* ; Humans ; Male ; Female ; Retrospective Studies ; Turkey / epidemiology ; Pyrin / genetics ; Mutation ; Serum Amyloid A Protein References: Rheumatology (Oxford). 2020 Oct 1;59(10):2711-2724. (PMID: 32533192) ; Amyloid. 2015 Mar;22(1):1-7. (PMID: 25376380) ; N Engl J Med. 2018 May 17;378(20):1908-1919. (PMID: 29768139) ; Arthritis Res Ther. 2015 Sep 04;17:243. (PMID: 26337145) ; Dermatologica. 1982 Sep;165(3):168-71. (PMID: 7128885) ; Clin Rheumatol. 2012 Mar;31(3):493-501. (PMID: 22057232) ; Ann Intern Med. 2012 Oct 16;157(8):533-41. (PMID: 23070486) ; Kidney Int. 1993 Oct;44(4):834-6. (PMID: 7505040) ; Nephrol Dial Transplant. 2005 Aug;20(8):1721-5. (PMID: 15972323) ; Rheumatology (Oxford). 2021 Jul 1;60(7):3235-3242. (PMID: 33291151) ; Isr Med Assoc J. 2003 Aug;5(8):585-8. (PMID: 12929299) ; Rheumatology (Oxford). 2020 Dec 1;59(12):3892-3899. (PMID: 32556219) ; BMJ Case Rep. 2016 Sep 22;2016:. (PMID: 27659912) ; Arthritis Rheum. 2003 Apr;48(4):1149-55. (PMID: 12687559) ; Front Immunol. 2018 Nov 16;9:2668. (PMID: 30505307) ; Nat Genet. 1997 Sep;17(1):25-31. (PMID: 9288094) ; Ann Rheum Dis. 2000 Aug;59(8):577-9. (PMID: 10913049) ; Clin Exp Rheumatol. 2015 Nov-Dec;33(6 Suppl 94):S15-8. (PMID: 26487400) ; Medicine (Baltimore). 2005 Jan;84(1):1-11. (PMID: 15643295) ; Amyloid. 2017 Sep;24(3):162-166. (PMID: 28686088) ; J Rheumatol. 2000 Jul;27(7):1703-7. (PMID: 10914855) ; Am J Hematol. 2005 Aug;79(4):319-28. (PMID: 16044444) ; Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):103-7. (PMID: 24064023) ; BMC Med Genet. 2004 Feb 10;5:4. (PMID: 15018633) ; Int J Mol Sci. 2019 Apr 17;20(8):. (PMID: 30999610) ; Clin Transplant. 2018 Aug;32(8):e13345. (PMID: 29981275) ; Rheum Dis Clin North Am. 2018 Nov;44(4):585-603. (PMID: 30274625) ; J Res Med Sci. 2014 Jul;19(7):644-9. (PMID: 25364365) ; Blood. 2012 May 10;119(19):4343-5. (PMID: 22577156) ; Arthritis Rheumatol. 2017 Apr;69(4):854-862. (PMID: 27860460) ; Ann Intern Med. 2009 May 5;150(9):604-12. (PMID: 19414839) ; Arthritis Care Res (Hoboken). 2018 Jul;70(7):1090-1094. (PMID: 28992387) ; Clin Exp Rheumatol. 2016 Sep-Oct;34(6 Suppl 102):72-76. (PMID: 27791951) ; PLoS Med. 2006 Aug;3(8):e297. (PMID: 16942393) ; Amyloid. 1999 Mar;6(1):1-6. (PMID: 10211405) ; N Engl J Med. 2007 Jun 7;356(23):2361-71. (PMID: 17554117) ; J Rheumatol. 2003 Jan;30(1):185-90. (PMID: 12508410) ; Clin Exp Rheumatol. 2001 Mar-Apr;19(2):225. (PMID: 11326492) ; Hum Mutat. 2004 Sep;24(3):194-8. (PMID: 15300846) ; Arthritis Rheum. 1997 Oct;40(10):1879-85. (PMID: 9336425) ; Ann Rheum Dis. 2001 Feb;60(2):146-9. (PMID: 11156548) ; Eur J Hum Genet. 1998 Jan;6(1):95-7. (PMID: 9781020) ; Am J Med. 1967 Aug;43(2):227-53. (PMID: 5340644) ; Ann Rheum Dis. 2010 Jul;69(7):1383-8. (PMID: 19934105) ; Dig Liver Dis. 2012 Aug;44(8):689-93. (PMID: 22333476) ; Amyloid. 2020 Mar;27(1):1-12. (PMID: 31766892) ; Rheumatology (Oxford). 2000 Jan;39(1):67-72. (PMID: 10662876) ; Iran J Kidney Dis. 2016 May;10(3):107-12. (PMID: 27225717) ; Cell. 1997 Aug 22;90(4):797-807. (PMID: 9288758) Contributed Indexing: Keywords: MEFV; AA amyloidosis; FMF; IL-1 inhibitors; amyloid storm Substance Nomenclature: 0 (Pyrin) ; 0 (MEFV protein, human) ; 0 (Serum Amyloid A Protein) SCR Disease Name: AA amyloidosis Entry Date(s): Date Created: 20230922 Date Completed: 20240205 Latest Revision: 20240205 Update Code: 20240205 PubMed Central ID: PMC10836966

Klicken Sie ein Format an und speichern Sie dann die Daten oder geben Sie eine Empfänger-Adresse ein und lassen Sie sich per Email zusenden.

BibTeX Citavi, JabRef, u.a.
(Literaturverwaltung)

PDF kein Volltext!
(Merkzettel, Notizen)

RIS Endnote, Citavi u.a.
(Literaturverwaltung)

MODS
(XML zur Weiterverarbeitung)

oder

Wählen Sie das für Sie passende Zitationsformat und kopieren Sie es dann in die Zwischenablage, lassen es sich per Mail zusenden oder speichern es als PDF-Datei.

Gewünschter Zitations-Stil:

oder

Bitte prüfen Sie, ob die Zitation formal korrekt ist, bevor Sie sie in einer Arbeit verwenden. Benutzen Sie gegebenenfalls den "Exportieren"-Dialog, wenn Sie ein Literaturverwaltungsprogramm verwenden und die Zitat-Angaben selbst formatieren wollen.

Characteristics and course of patients with AA amyloidosis: single centre experience with 174 patients from Turkey.