A new set of criteria for the diagnosis of familial Mediterranean fever in childhood

Yalçınkaya, Fatoş; Özen, Seza; Özçakar, Z. Bı̇rsı̇n; Aktay, Nuray; Çakar, Nilgün; Düzova, Ali; Kasapçopur, Özgür; Elhan, Atilla Halil; Doğanay, Beyza; Ekı̇m, Mesı̇ha; Kara, Nazlı; Uncu, Nermin; Bakkaloğlu, Ayşı̇n

doi:10.1093/rheumatology/ken509

Cited by 409 publications

(255 citation statements)

References 14 publications

Supporting

Mentioning

201

Contrasting

Unclassified

Order By: Relevance

“…Fifty-three patients who were being followed up with a diagnosis of IBD and who were being treated were evaluated in terms of presence of FMF by a pediatric rheumatologist according to the FMF criteria established in 2009 (15). The diagnosis of FMF was made in accordance with with the criteria mentioned above considering detailed history, physical examination findings, laboratory findings and genetic analysis results in terms of MEFV gene mutations.…”

Section: Patients and Definitionsmentioning

confidence: 99%

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Beşer¹,

Çokuğraş²,

Kutlu³

et al. 2014

Turk Arch Ped

View full text Add to dashboard Cite

Aim: Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) carry similar clinical and biological properties. Both are characterized with chronic inflammation attacks and neutrophil migration and impaired apoptosis mechanism are present in the areas of damage in both conditions. In our study, we aimed to determine the frequency of association of FMF in patients with IBD, to compare the demographic, clinical, laboratory and treatment response properties in these patients with the ones in other IBD patients and to determine association of FMF especially in treatment-resistant patients. Material and Methods:Fifty-three patients who were being followed up with a diagnosis of IBD aged between 0 and 18 years were included in the study. The patient group included the patients who were diagnosed with IBD according to clinical, serological, endoscopic and histopathological criteria, who were being followed up and whose therapies were continuing. Genetic analysis in terms of MEFV gene mutations was performed in all patients with a diagnosis of IBD. Acute phase reactants, complete blood count, immunoglobulin levels, stool analysis, "perinuclear anti-neutrophil cytoplasmic antibodies" (pANCA) and "anti-Saccharomyces cerevisiae antibodies" (ASCA) were studied at the time of diagnosis. The diagnosis of FMF was made according to detailed history, physical examination findings, laboratory tests and the results of genetic analyses in terms of MEFV gene mutations in accordance with the criteria defined in 2009. Results:We found that FMF accompanied in 14 (26.4%) of the patients who had a diagnosis of IBD. 3 of these 14 patients in whom FMF accompanied were being followed up with a diagnosis of Crohn disease and 11 were being followed up with a diagnosis of ulcerative colitis. All of these patients had MEFV gene mutation. These mutations included M694V (50%), K695R (21.4%), M680I (14.3%) and R202Q (14.3%) in order of frequency. When the laboratory data were compared between the patients who had a diagnosis of IBD alone and who had a diagnosis of IBD plus FMF, it was observed that the erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) values were statistically significantly higher in the IBD+FMF group.Conclusions: FMF is a common condition in the Turkish population and M694V mutation is found most commonly. In our study, this status did not change in cases where FMF accompanied IBD, but K695R mutation was found more frequently compared to FMF alone. We think that it should be kept in mind that other inflammatory conditions including mainly FMF may accompany IBD, if a case of IBD does not have an expected course or is resistant to treatment. (Türk Ped Arş 2014; 49: 198-202)

show abstract

Section: Patients and Definitionsmentioning

confidence: 99%

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Beşer¹,

Çokuğraş²,

Kutlu³

et al. 2014

Turk Arch Ped

View full text Add to dashboard Cite

show abstract

“…Klinik bulguları ile AAA düşünülen hastada yapılan genetik araştırmada MEFV mutasyonu saptanması üzerine (K695R/-), kolşisin tedavisine başlandı. [1] Tedavinin başlamasından yaklaşık iki ay sonra hastanın şikayetleri azaldı. Akut faz reaktan düzeyleri normale indi.…”

Section: Olgu Sunumuunclassified

“…Genetik analizlerin yapılabilmesiyle birlikte, AAA'nin atipik belirtiler ile prezente olabildiği gözlenmiştir. [1] Ancak bugüne kadar sekonder amenore ile başvuran AAA'li hasta bildirilmemiştir.…”

unclassified

Sekonder amenore ile başvuran bir ailevi Akdeniz ateşi olgusu

Parıldar¹

2014

Turk Aile Hek Derg

View full text Add to dashboard Cite

“…The same group of researchers has since proposed a new set of highly sensitive (86.5%) and specific (93.6%) diagnostic criteria. 32 Laboratory testing may reveal leukocytosis and elevated acute phase reactants, such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum amyloid A (SAA); the latter is considered the best laboratory marker of subclinical inflammation. 8,16,33 Definitive diagnosis requires a finding of MEFV mutations.…”

Section: Familial Mediterranean Fever (Fmf)mentioning

confidence: 99%

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Jesus¹,

Oliveira²,

Hilário³

et al. 2010

J. Pediatr. (Rio J.)

View full text Add to dashboard Cite

Objective: To describe the most prevalent pediatric hereditary autoinflammatory syndromes.Sources: A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. Summary of the findings:The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as primary immunodeficiencies. These syndromes are characterized by recurrent or persistent systemic inflammatory symptoms and must be distinguished from infectious diseases, autoimmune diseases, and other primary immunodeficiencies. This review describes the epidemiological, clinical and laboratory features, prognosis, and treatment of the main autoinflammatory syndromes, namely: familial Mediterranean fever; TNF receptor associated periodic syndrome; the cryopyrinopathies; mevalonate kinase deficiency; pediatric granulomatous arthritis; pyogenic arthritis, pyoderma gangrenosum and acne syndrome; Majeed syndrome; and deficiency of interleukin 1 receptor antagonist. The cryopyrinopathies discussed include neonatal-onset multisystem inflammatory disease (also known as chronic infantile neurologic, cutaneous and articular syndrome) Muckle-Wells syndrome, and familial cold autoinflammatory syndrome. Conclusions:Pediatricians must recognize the clinical features of the most prevalent autoinflammatory syndromes. Early referral to a pediatric rheumatologist may allow early diagnosis and institution of treatment, with improvement in the quality of life of these patients.

show abstract

A new set of criteria for the diagnosis of familial Mediterranean fever in childhood

Cited by 409 publications

References 14 publications

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Association of familial Mediterranean fever in Turkish children with inflammatory bowel disease

Sekonder amenore ile başvuran bir ailevi Akdeniz ateşi olgusu

Síndromes autoinflamatórias hereditárias na faixa etária pediátrica

Contact Info

Product

Resources

About