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The Eurofever/PRINTO classification criteria for hereditary recurrent fevers and their performance

The Eurofever/PRINTO classification criteria for hereditary recurrent fevers and their performance
Cryopyrin-associated periodic syndromes Familial Mediterranean fever Tumor necrosis factor receptor-associated periodic fever syndrome Mevalonate kinase deficiency
Presence of a confirmatory NLRP3 genotype* and at least 1 among the following:
  • Urticarial rash
  • Red eye (conjunctivitis, episcleritis, uveitis)
  • Neurosensorial hearing loss

OR

Presence of a not confirmatory NLRP3 genotype and at least 2 among the following:
  • Urticarial rash
  • Red eye (conjunctivitis, episcleritis, uveitis)
  • Neurosensorial hearing loss
Presence of a confirmatory MEFV genotype* and at least 1 among the following:
  • Duration of episodes 1 to 3 days
  • Arthritis
  • Chest pain
  • Abdominal pain

OR

Presence of a not confirmatory MEFV genotypeΔ and at least 2 among the following:
  • Duration of episodes 1 to 3 days
  • Arthritis
  • Chest pain
  • Abdominal pain
Presence of a confirmatory TNFRSF1A genotype* and at least 1 among the following:
  • Duration of episodes ≥7 days
  • Myalgia
  • Migratory rash
  • Periorbital oedema
  • Relatives affected

OR

Presence of a not confirmatory TNFRSF1A genotype and at least 2 among the following:
  • Duration of episodes ≥7 days
  • Myalgia
  • Migratory rash
  • Periorbital oedema
  • Relatives affected
Presence of a confirmatory MVK genotype* and at least 1 among the following:
  • Gastrointestinal symptoms
  • Cervical lymphadenitis
  • Aphthous stomatitis
Sensitivity: 1 Sensitivity: 0.94 Sensitivity: 0.95 Sensitivity: 0.98
Specificity: 1 Specificity: 0.95 Specificity: 0.99 Specificity: 1
Accuracy: 1 Accuracy: 0.98 Accuracy: 0.99 Accuracy: 1
A patient with evidence of elevation of acute phase reactants (ESR, CRP, or SAA) in correspondence to the clinical flares and careful consideration of possible confounding diseases (neoplasms, infections, autoimmune conditions, other inborn errors of immunity) and a reasonable period of recurrent disease activity (at least 6 months) is classified as having hereditary recurrent fever if the criteria are met.
PRINTO: Paediatric Rheumatology International Trials Organisation; NLRP3: NLR family pyrin domain-containing 3; MEFV: MEFV innate immunity regulator, pyrin; TNFRSF1A: TNF receptor superfamily member 1A; MVK: mevalonate kinase; ESR: erythrocyte sedimentation rate; CRP: C-reactive protein; SAA: serum amyloid A.
* Pathogenic or likely pathogenic variants (heterozygous in autosomal-dominant diseases; homozygous or in trans [or biallelic] compound heterozygous in autosomal-recessive diseases).
¶ Variant of uncertain significance (VUS). Benign and likely benign variants should be excluded.
Δ In trans compound heterozygous for one pathogenic MEFV variants and one VUS, or biallelic VUS, or heterozygous for one pathogenic MEFV variant.
Reproduced with permission from: Gattorno M, Hofer M, Federici S, et al. Classification criteria for autoinflammatory recurrent fevers. Ann Rheum Dis 2019; 78(8):1025-1032. Copyright © 2019 BMJ Publishing Group Ltd.
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