Severity scoring system for paediatric FMF

Livneh, Avi

doi:10.1038/nrrheum.2012.54

Cited by 6 publications

(4 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is associated with mutations in the MEFV (MEditerraneanFeVer) gene (OMIM 608107) [ 9 , 27 ] . This gene was identifi ed by positional cloning in 1997, is mapped to the short arm of chromosome 16 and encodes the protein pyrin (formally called marenostrin), an important regulator of the innate immune response [ 24 , 25 ] . Until May 2013, over 270 diff erent MEFV sequence variants have been recorded in the "Infevers" database (http://fmf.igh.cnrs.fr/ ISSAID/infevers) [ 17 , 26 ] .…”

mentioning

confidence: 99%

See 1 more Smart Citation

Genotype-Phenotype and Genotype-Origin Correlations in Children with Mediterranean Fever in Germany – an AID-Net Study

et al. 2013

View full text Add to dashboard Cite

Familial Mediterranean fever (FMF) is the most inherited common autoinflammatory disease (AID) with mutations in the MEFV (MEditerraneanFeVer) gene.The Mor- and Pras-Score modified for children and C-reactive protein (CRP) were used to assess FMF disease severity in Germany. We evaluate the applicability of the 2 severity scores and the correlations between ethnic origin, phenotype, and genotype.Among 242 children (median 5 age at diagnosis), we detected 431 pyrin mutations and 22 different sequence variants, including one new mutation (p.Gly488Asp). The 5 most -frequent alterations were p.Met694Val (55.2%), p.Met680lle (11.8%), p.Val726Ala (10%), p.Glu148Gln (7.9%) and p.Met694IIe (2.3%). The prevailing ancestries of 223 cases were Turkish (82.5%) and Lebanese (8.1%). Homozygous p.Met694Val substitution (30.2%) was associated with a more severe disease activity by Mor-Score, as well as with a higher mean CRP (74 mg/l) compared to patients with other mutations. Indeed, Mor- and Pras-Score were inconsistent with each other. A typical distribution of mutations in different ethnic populations was obvious, but not statistically verifiable due to the low number of cases.The homozygous p.Met694Val substitution was associated with a more severe disease activity in our German cohort. The common severity scores were inconsistent in -children.

show abstract

mentioning

confidence: 99%

“…Country of residence, presence of the p.Met694Val substitution, and positive family history are independently associated with disease severity [ 21 ] . Childhood FMF is a disease in evolution, and this important insight must be considered when trying to establish severity criteria for children as an instrument for clinical and research projects [ 16 ] .…”

mentioning

confidence: 99%

Genotype-Phenotype and Genotype-Origin Correlations in Children with Mediterranean Fever in Germany – an AID-Net Study

et al. 2013

View full text Add to dashboard Cite

show abstract

“…Karın ağrısı olmadan da sık üst solunum yolu enfeksiyonu bulgularıyla seyreden AAA heterozigot mutasyonlu olgular oldukça sıktır (9). Tekrarlayıcı ateş nedeni olan otoinflamatuvar hastalıklar benzer klinik bulgulara neden oldukları için tanıda gecikmeler yaşanabilmektedir.…”

Section: Discussionunclassified

Familial Mediterranean Fever in a Patient with PFAPA Syndrome

Tekin¹,

Konca²,

Gülyüz³

et al. 2015

jpr

View full text Add to dashboard Cite

Periyodik ateş, aftöz stomatit, farenjit, servikal adenit (PFAPA) sendromu çocukluk yaşlarında görülen tekrarlayıcı ateş sendromlarından birisidir. Bazı hastalarda klasik bulgular dışında baş ağrısı, karın ağrısı ve eklem ağrısı gibi bulgular da görülmektedir. PFAPA atakları prednizolon tedavisi ile düzelmektedir. Dört yaşına kadar yaklaşık 12 kez yüksek ateş yakınması ile başvuran hastada her atak sırasında membranöz tonsillit, lenfadenomegali ve zaman zaman aft saptandı. PFAPA sendromu tanısı konulan hastanın tüm atakları tek doz prednizolon ile tamamen düzeldi. Ataklar sırasında zaman zaman karın ağrısı şikayeti olduğu da gözlenen hastadan genetik inceleme istendi. Genetik inceleme sonucunda heterozigot M694V mutasyonu saptanan hastaya kolşisin başlandı. Kolşisin tedavisi sonrası karın ağrısı yanında tekrarlayan ateş yakınmaları da düzelen hastaya Ailesel Akdeniz Ateşi (AAA) tanısı konuldu. Bazı AAA hastalarının prednizolon tedavisinden fayda gördükleri bilinmektedir. Bu nedenle PFAPA tanısı konulmadan önce diğer tekrarlayıcı ateş nedenleri dışlanmalı ve tekrarlayan karın ağrısı yakınması olan PFAPA sendromlu hastalarda mutlaka AAA düşünülmelidir.

show abstract

“…2 We consider sharing our opinion with the scientific community as an ethical obligation and, therefore, would like to respond to the criticisms in the Livneh commentary. 1 One of the key messages of our study was the lack of consistency between the current severity scoring tools for paediatric FMF. However, this finding would not neces sarily make studies of severity scoring systems questionable.…”

mentioning

confidence: 98%