Renal involvement in monogenic autoinflammatory diseases: A narrative review.
AA amyloidosis
AIDs
FMF
autoinflammatory diseases
non-amyloid kidney disease
Journal
Nephrology (Carlton, Vic.)
ISSN: 1440-1797
Titre abrégé: Nephrology (Carlton)
Pays: Australia
ID NLM: 9615568
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
revised:
18
04
2023
received:
05
03
2023
accepted:
20
04
2023
medline:
14
6
2023
pubmed:
5
5
2023
entrez:
4
5
2023
Statut:
ppublish
Résumé
Autoinflammatory diseases (AIDs) are mostly caused by dysfunctions in single genes encoding for proteins with a prominent role in the regulation of innate immunity, such as complement factors, inflammasome components, tumour necrosis factor (TNF)-α, and proteins belonging to type I-interferon (IFN) signalling pathways. Due to the deposition of amyloid A (AA) fibrils in the glomeruli, unprovoked inflammation in AIDs frequently affects renal health. In fact, secondary AA amyloidosis is the most common form of amyloidosis in children. It is caused by the extracellular deposition of fibrillar low-molecular weight protein subunits resulting from the degradation and accumulation of serum amyloid A (SAA) in numerous tissues and organs, primarily the kidneys. The molecular mechanisms underlying AA amyloidosis in AIDs are the elevated levels of SAA, produced by the liver in response to pro-inflammatory cytokines, and a genetic predisposition due to specific SAA isoforms. Despite the prevalence of amyloid kidney disease, non-amyloid kidney diseases may also be responsible for chronic renal damage in children with AIDs, albeit with distinct characteristics. Glomerular damage can result in various forms of glomerulonephritis with distinct histologic characteristics and a different underlying pathophysiology. This review aims to describe the potential renal implications in patients with inflammasomopathies, type-I interferonopathies, and other rare AIDs in an effort to improve the clinical course and quality of life in paediatric patients with renal involvement.
Substances chimiques
Serum Amyloid A Protein
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
363-371Informations de copyright
© 2023 Asian Pacific Society of Nephrology.
Références
Papa R, Lachmann HJ. Secondary, AA, amyloidosis. Rheum Dis Clin N Am. 2018;44(4):585-603.
Fernández de Larrea C, Verga L, Morbini P, et al. A practical approach to the diagnosis of systemic amyloidoses. Blood. 2015;125(14):2239-2244.
Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2018: recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2018;25(4):215-219.
Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. Hereditary transthyretin amyloidosis overview. Neurol Sci. 2022;43(Suppl 2):595-604.
Bilginer Y, Akpolat T, Ozen S. Renal amyloidosis in children. Pediatr Nephrol. 2011;26(8):1215-1227.
Agab Eldour AA, Mohmed Salih EN, Ahmed HG. Incidence of tuberculosis and amyloidosis among Sudanese patients presented with enlarged nodes. J Trop Med. 2014;2014:1-4.
Di Donato G, d'Angelo DM, Breda L, Chiarelli F. Monogenic autoinflammatory diseases: state of the art and future perspectives. Int J Mol Sci. 2021;22(12):6360.
Krainer J, Siebenhandl S, Weinhäusel A. Systemic autoinflammatory diseases. J Autoimmun. 2020;109:102421.
McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133-144.
Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508-1520.
Cavalli G, Campochiaro C, Dagna L. In the limelight: AA amyloidosis exposes TNF receptor-1 associated periodic syndrome. Rheumatology. 2021;60(12):5493-5494.
Cudrici C, Deuitch N, Aksentijevich I. Revisiting TNF receptor-associated periodic syndrome (TRAPS): current perspectives. Int J Mol Sci. 2020;21(9):3263.
Scarpioni R, Obici L. Renal involvement in autoinflammatory diseases and inflammasome-mediated chronic kidney damage. Clin Exp Rheumatol. 2018;36(Suppl (1)):54-60.
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.
Peleg H, Ben-Chetrit E. The kidney in familial Mediterranean fever. J Rheumatol. 2013;40(12):1948-1950.
Anders HJ, Kitching AR, Leung N, Romagnani P. Glomerulonephritis: immunopathogenesis and immunotherapy. Nat Rev Immunol. 2023;12:1-19.
Schroder K, Tschopp J. The inflammasomes. Cell. 2010;140(6):821-832.
Awad F, Assrawi E, Louvrier C, et al. Inflammasome biology, molecular pathology and therapeutic implications. Pharmacol Ther. 2018;187:133-149.
von Moltke J, Trinidad NJ, Moayeri M, et al. Rapid induction of inflammatory lipid mediators by the inflammasome in vivo. Nature. 2012;490(7418):107-111.
von Moltke J, Ayres JS, Kofoed EM, Chavarría-Smith J, Vance RE. Recognition of bacteria by inflammasomes. Annu Rev Immunol. 2013;31:73-106.
Lachmann HJ, Sengül B, Yavuzşen TU, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology. 2006;45(6):746-750.
Ozen S. Update in familial Mediterranean fever. Curr Opin Rheumatol. 2021;33(5):398-402.
Rathinam VAK, Fitzgerald KA. Inflammasome complexes: emerging mechanisms and effector functions. Cell. 2016;165(4):792-800.
Tufan A, Lachmann HJ. Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review. Turk J Med Sci. 2020;50:1591-1610.
Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis. 2019;78(8):1025-1032.
Giancane G, Ter Haar NM, Wulffraat N, et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis. 2015;74(4):635-641.
Akar S, Yuksel F, Tunca M, et al. Familial Mediterranean fever: risk factors, causes of death, and prognosis in the colchicine era. Medicine. 2012;91(3):131-136.
Twig G, Livneh A, Vivante A, et al. Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents. Ann Rheum Dis. 2014;73(4):704-709.
Kasifoglu T, Bilge SY, Sari I, et al. Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study. Rheumatology. 2014;53(4):741-745.
Ahbap E, Kara E, Sahutoglu T, et al. Outcome of 121 patients with renal amyloid a amyloidosis. J Res Med Sci. 2014;19(7):644-649.
Sack GH. Serum amyloid A-a review. Mol Med. 2018;24(1):46.
Bakkaloglu A, Duzova A, Ozen S, et al. Influence of serum amyloid a (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial mediterranean fever in the Turkish population. J Rheumatol. 2004;31(6):1139-1142.
Cazeneuve C, Ajrapetyan H, Papin S, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet. 2000;67:1136-1143.
Kluve-Beckerman B, Yamada T, Hardwick J, Liepnieks JJ, Benson MD. Differential plasma clearance of murine acute-phase serum amyloid a proteins SAA1 and SAA2. Biochem J. 1997;322(Pt 2):663-669.
Babaoglu H, Armagan B, Bodakci E, et al. Predictors of persistent inflammation in familial Mediterranean fever and association with damage. Rheumatology. 2021;60(1):333-339.
Touitou I, Sarkisian T, Medlej-Hashim M, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56(5):1706-1712.
Varan O, Kucuk H, Babaoglu H, et al. Chronic inflammation in adult familial Mediterranean fever patients: underlying causes and association with amyloidosis. Scand J Rheumatol. 2019;48(4):315-319.
Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine. 2005;84(1):1-11.
Watts RA, Lane SE, Scott DG, et al. Epidemiology of vasculitis in Europe. Ann Rheum Dis. 2001;60(12):1156-1157.
Ozen S, Ben-Chetrit E, Bakkaloglu A, et al. Polyarteritis nodosa in patients with familial Mediterranean fever (FMF): a concomitant disease or a feature of FMF? Semin Arthritis Rheum. 2001;30(4):281-287.
Kukuy O, Livneh A, Ben-David A, et al. Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients. J Rheumatol. 2013;40(12):2083-2087.
Khellaf G, Benziane A, Kaci L, Ait-Idir D, Missoum S, Benabadji M. Renal involvement in familial Mediterranean fever in an Algerian population. Clin Nephrol. 2023;99:172-179.
Ter Haar NM, Jeyaratnam J, Lachmann HJ, et al. The phenotype and genotype of mevalonate kinase deficiency: a series of 114 cases from the Eurofever registry. Arthritis Rheumatol. 2016;68(11):2795-2805.
van der Hilst JCH, Bodar EJ, Barron KS, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine. 2008;87(6):301-310.
Rodrigues F, Philit JB, Giurgea I, et al. AA amyloidosis revealing mevalonate kinase deficiency: a report of 20 cases including two new French cases and a comprehensive review of literature. Semin Arthritis Rheum. 2020;50(6):1370-1373.
Touitou I. Twists and turns of the genetic story of mevalonate kinase-associated diseases: a review. Genes Dis. 2022;9(4):1000-1007.
Mandey SHL, Kuijk LM, Frenkel J, Waterham HR. A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum. 2006;54(11):3690-3695.
Rodrigues F, Cuisset L, Cador-Rousseau B, et al. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review. Rheumatology. 2022;61(12):4827-4834.
Lachmann HJ, Papa R, Gerhold K, et al. Paediatric rheumatology international trials organisation (PRINTO), the EUROTRAPS and the Eurofever project the phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis. 2014;73(12):2160-2167.
Delaleu J, Deshayes S, Rodrigues F, et al. Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review. Rheumatology. 2021;60(12):5775-5784.
Lodi L, Mastrolia MV, Bello F, et al. Type I interferon-related kidney disorders. Kidney Int. 2022;101(6):1142-1159.
Migliorini A, Angelotti ML, Mulay SR, et al. The antiviral cytokines IFN-α and IFN-β modulate parietal epithelial cells and promote podocyte loss: implications for IFN toxicity, viral glomerulonephritis, and glomerular regeneration. Am J Pathol. 2013;183(2):431-440.
Briggs TA, Rice GI, Adib N, et al. Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey. J Clin Immunol. 2016;36(3):220-234.
d'Angelo DM, Di Filippo P, Breda L, Chiarelli F. Type I Interferonopathies in children: an overview. Front Pediatr. 2021;9:631329.
Ceri M, Unverdi S, Altay M, Yılmaz R, Duranay M. An unusual effect of colchicine treatment in familial Mediterranean fever-associated glomerulonephritis. Rheumatol Int. 2011;31(7):971-972.
Leung YY, Yao Hui LL, Kraus VB. Colchicine-update on mechanisms of action and therapeutic uses. Semin Arthritis Rheum. 2015;45(3):341-350.
Ozen S, Kone-Paut I, Gül A. Colchicine resistance and intolerance in familial mediterranean fever: definition, causes, and alternative treatments. Semin Arthritis Rheum. 2017;47(1):115-120.
Özçakar ZB, Elhan AH, Yalçınkaya F. Can colchicine response be predicted in familial Mediterranean fever patients? Rheumatology. 2014;53(10):1767-1772.
Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644-651.
De Benedetti F, Gattorno M, Anton J, et al. Canakinumab for the treatment of autoinflammatory recurrent fever syndromes. N Engl J Med. 2018;378(20):1908-1919.
Babaoglu H, Varan O, Kucuk H, et al. Effectiveness of Canakinumab in colchicine- and Anakinra-resistant or -intolerant adult familial Mediterranean fever patients: a single-center real-life study. J Clin Rheumatol. 2020;26(1):7-13.
Yildirim T, Yilmaz R, Saglam A, Uzerk-Kibar M, Jabrayilov J, Erdem Y. Baseline renal functions predict the effect of canakinumab on regression of proteinuria in patients with familial Mediterranean fever. Nefrologia. 2021;41(6):632-639.
Bertoni A, Carta S, Baldovini C, et al. A novel knock-in mouse model of cryopyrin-associated periodic syndromes with development of amyloidosis: therapeutic efficacy of proton pump inhibitors. J Allergy Clin Immunol. 2020;145(1):368-378.e13.
ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74(9):1636-1644.
Anliker-Ort M, Dingemanse J, van den Anker J, Kaufmann P. Treatment of rare inflammatory kidney diseases: drugs targeting the terminal complement pathway. Front Immunol. 2020;11:599417.
Boyadzhieva Z, Ruffer N, Burmester G, Pankow A, Krusche M. Effectiveness and safety of JAK inhibitors in autoinflammatory diseases: a systematic review. Front Med. 2022;9:930071.