A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes

Journal of Nephrology

Volumn 19, Issue 4, 2006, Pages 543-549

  Cigni, Alessandro ^a   Ledda, Franca ^a   Satta, Andrea E ^a  

^a UNIVERSITY OF SASSARI   (Italy)

Author keywords

AA amyloidosis; Colchicine; Familial Mediterranean fever; Rhabdomyolysis; Serum amyloid A protein; Tumor necrosis factor receptor associated periodic fever syndrome

Indexed keywords

AMYLOID A PROTEIN; ARGININE; ATORVASTATIN; COLCHICINE; GLUTAMIC ACID; GLUTAMINE; QUINOLINE DERIVED ANTIINFECTIVE AGENT; RAMIPRIL; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMORBIDITY; DISEASE COURSE; DISEASE EXACERBATION; DRUG DOSE REGIMEN; FAMILY STUDY; FOLLOW UP; GENE MUTATION; GENETIC CODE; HEMODIALYSIS; HEREDITARY PERIODIC FEVER; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KIDNEY AMYLOIDOSIS; KIDNEY BIOPSY; KIDNEY FAILURE; LABORATORY TEST; MALE; MUTATIONAL ANALYSIS; PHYSICAL EXAMINATION; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; PROTEINURIA; RHABDOMYOLYSIS; SEPSIS;

EID: 35648936011     PISSN: 11218428     EISSN: 17246059     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. Gertz MA. Secondary amyloidosis (AA). J Int Med 1992; 232: 517-8.
2. 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.
3. Drenth JP, van der Meer JW. Hereditary periodic fever. N Engl J Med 2001; 345: 1748-57.
4. 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.
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. Stojanov S, Lohse P, McDermott MF, Renner ED, Kery A, Mirakian R, Hammond LJ, Aganna E, Hoffmann F, Zellerer S, Belohradsky BH. Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q. Rheumatology 2004; 43: 526-7.
7. 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.
8. Ozen S. Renal amyloidosis in familial Mediterranean fever. Nephrology Forum. Kidney Int 2004; 65: 1118-27.
9. Kyle RA. Amyloidosis. Circulation 1995; 91: 1269-71.
10. Wilbur K, Makowsky M. Colchicine myotoxicity: case reports and literature review, Pharmacotherapy 2004; 24: 1784-92.
11. Shek A, Ferrill MJ. Statin-fibrate combination therapy. Ann Pharmacother 2001; 35: 908-17.
12. Hsu WC, Chen WH, Chang MT, Chin HC. Colchicine-induced acute myopathy in a patient with concomitant use of simvastatin. Clin Neuropharmacol 2002; 25: 266-8.
13. Montseny JJ, Meyrier A, Gherardi RK. Colchicine toxicity in patients with chronic renal failure. Nephrol Dial Transplant 1996; 11: 2055-8.