Τίτλος:
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Background: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database (http://fmf.igh.cnrs.fr/ISSAID/infevers) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. Results: Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. Conclusions: We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites. © 2017 The Author(s).
Συγγραφείς:
Papa, R.
Doglio, M.
Lachmann, H.J.
Ozen, S.
Frenkel, J.
Simon, A.
Neven, B.
Kuemmerle-Deschner, J.
Ozgodan, H.
Caorsi, R.
Federici, S.
Finetti, M.
Trachana, M.
Brunner, J.
Bezrodnik, L.
Pinedo Gago, M.C.
Maggio, M.C.
Tsitsami, E.
Al Suwairi, W.
Espada, G.
Shcherbina, A.
Aksu, G.
Ruperto, N.
Martini, A.
Ceccherini, I.
Gattorno, M.
Περιοδικό:
Orphanet Journal of Rare Diseases
Εκδότης:
BioMed Central Ltd.
Λέξεις-κλειδιά:
adalimumab; allopurinol; anakinra; canakinumab; cimetidine; colchicine; cryopyrin; cyclosporin; cysteine; etanercept; infliximab; methotrexate; mevalonate kinase; mycophenolate mofetil; nonsteroid antiinflammatory agent; salazosulfapyridine; steroid; thalidomide, abdominal pain; adenoidectomy; alopecia areata; amyloidosis; aphthous stomatitis; arthralgia; arthritis; Article; bone erosion; cataract; chill; cholelithiasis; CINCA syndrome; compression fracture; constipation; controlled study; cranial neuropathy; delayed puberty; diarrhea; digital clubbing; disease course; disease duration; diverticulitis; DNA polymorphism; enzyme activity; exon; facial nerve paralysis; familial Mediterranean fever; female; flexion contracture; gene; gene deletion; gene mutation; genetic association; genetic disorder; genotype phenotype correlation; headache; hearing impairment; hepatitis A; hepatomegaly; hereditary recurrent fever; heterozygosity; human; hydrocephalus; hyperostosis; hypertension; infertility; injection site pustule; intestine perforation; intron; keratopathy; kidney disease; kidney failure; liver graft rejection; liver transplantation; macrophage activation syndrome; maculopapular rash; maintenance therapy; major clinical study; male; MEFV gene; mental deficiency; mevalonate kinase deficiency; monarthritis; MVK gene; myalgia; neuropathy; NLRP3 gene; onset age; optic nerve atrophy; optic neuritis; orchitis; osteoporosis; peritoneum adhesion; pharyngitis; pleurisy; recurrent fever; register; retinitis pigmentosa; retrospective study; seizure; skin manifestation; splenomegaly; tenosynovitis; tinnitus; TNFRSF1A gene; tonsillectomy; treatment response; tumor necrosis factor receptor associated periodic syndrome; visual impairment; vomiting; white matter lesion; Europe; genetic association study; genetic database; genetics; hereditary periodic fever; register, Databases, Genetic; Europe; Genetic Association Studies; Hereditary Autoinflammatory Diseases; Humans; Registries; Retrospective Studies
DOI:
10.1186/s13023-017-0720-3
