Autosomal dominant periodic fever with AA amyloidosis: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family

Journal of Nephrology

Volumn 18, Issue 5, 2005, Pages 626-629

  Dinc, Ayhan ^a   Erdem, Hakan ^a   Rowczenio, Dorota ^b   Simsek, Ismail ^a   Pay, Salih ^a   Bahce, Muhterem ^a   Lachmann, Helen ^b  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Amyloidosis; Periodic fever; Tumor necrosis factor receptor associated periodic syndrome; Turkish

Indexed keywords

ANTIBIOTIC AGENT; ETANERCEPT; LEUCINE; NONSTEROID ANTIINFLAMMATORY AGENT; PHENYLALANINE; TUMOR NECROSIS FACTOR RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR SF1A; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADULT; AMINO ACID SUBSTITUTION; ANKLE EDEMA; ARTHRALGIA; ARTICLE; CASE REPORT; EXON; FAMILIAL AMYLOIDOSIS; FAMILY; FEVER; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; KIDNEY AMYLOIDOSIS; KIDNEY BIOPSY; LYMPHADENOPATHY; MALE; MISSENSE MUTATION; NEPHROTIC SYNDROME; RASH; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; TURKEY (REPUBLIC); VOMITING;

ADULT; AMYLOIDOSIS; FAMILIAL MEDITERRANEAN FEVER; GENES, DOMINANT; HUMANS; MALE; MUTATION, MISSENSE; RECEPTORS, TUMOR NECROSIS FACTOR; TURKEY;

EID: 29244456738     PISSN: 11218428     EISSN: 17246059     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Grateau G. Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology (Oxford) 2004; 43: 410-5.
2. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998; 7: 1581-8.
3. Masson C, Simon V, Hoppe E, Insalaco P, Cisse I, Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. Joint Bone Spine 2004; 71: 284-90.
4. Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345: 1748-57.
5. Dode C, Hazenberg BP, Pecheux C, Cattan D, Moulin B, Barthelemy A, Gubler MC, Delpech M, Grateau G. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant 2002; 17: 1212-7.
6. Ben-Chetrit E. Familial Mediterranean fever (FMF) and renal AA amyloidosis - phenotype-genotype correlation, treatment and prognosis. J Nephrol 2003; 16: 431-4.
7. Ozen S. Familial Mediterranean fever: revisiting an ancient disease. Eur J Pediatr 2003; 162: 449-54.
8. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97: 133-44.
9. Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castanet JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yague J, Mirakian RM, Hitman GA, McDermott MF. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003; 48: 2632-44.
10. Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002; 81: 349-68.
11. Aganna E, Zeharia A, Hitman GA, Basel-Vanagaite L, Allotey RA, Booth DR, Hawkins PN, Thacker C, Syndercombe-Court D, McDermott MF. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46: 245-9.
12. Kusuhara K, Nomura A, Nakao F, Hara T. Tumour necrosis factor receptor-associated periodic syndrome with a novel mutation in the TNFRSF1A gene in a Japanese family. Eur J Pediatr 2004; 163: 30-2.
13. Dode C, Andre M, Bienvenu T, Hausfater P, Pecheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G; French Hereditary Recurrent Inflammatory Disorder Study Group. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46: 2181-8.
14. Talmud P, Tybjaerg-Hansen A, Bhatnagar D, Mbewu A, Miller JP, Durrington P, Humphries S. Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. Atherosclerosis 1991; 89: 137-41.
15. Obici L, Manno C, Muda AO, Picco P, D'Osualdo A, Palladini G, Avanzini MA, Torres D, Marciano S, Merlini G. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 2004; 50: 2966-9.
16. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001; 9: 553-5.
17. Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soyturk M, Akar S, Pepys MB, Tunca M, Hawkins PN. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000; 93: 217-21.
18. Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castaner JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yague J, Mirakian RM, Hitman GA, McDermott MF. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum 2003; 48: 2632-44.
19. Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld HJ, Broger C, Loetscher H, Lesslauer W. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell 1993; 73: 431-45.
20. Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ. Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford) 2003; 42: 235-9.
21. Gillmore JD, Lovat LB, Persey MR, Pepys MB, Hawkins PN. Amyloid load and clinical outcome in AA amyloidosis in relation to circulating concentration of serum amyloid A protein. Lancet 2001; 358: 24-9.