Familial Mediterranean fever in childhood: a single-center experience

Barut, Kenan; Şahin, Sezgin; Adroviç, Amra; Sinoplu, Ada Bulut; Yücel, Gözde; Pamuk, Gizem; Aydın, Aslı Kireçtepe; Daşdemir, Selçuk; Turanlı, Eda Tahir; Buyru, Nur; Kasapçopur, Özgür

doi:10.1007/s00296-017-3796-0

Cited by 105 publications

(102 citation statements)

References 28 publications

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“…20 In the pediatric population, the rate of amyloidosis was as low as 0.3% in patients with FMF. 21 A recent study revealed that male sex, Met694Val homozygosity, a family history of amyloidosis, and the presence of arthritis were related to a higher risk of amyloidosis in patients with FMF. 20 Another study from Armenia revealed similar results in adults with typical FMF symptoms, and only 9% of patients with amyloidosis were found to be heterozygous for the Met694Val mutation in MEFV.…”

Section: Figurementioning

confidence: 99%

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab

et al. 2018

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Deficiency of adenosine deaminase 2 (DADA2) is a rare autoinflammatory disease that was firstly described in patients with early-onset strokes, livedo reticularis, and periodic fever resembling polyarteritis nodosa. In reported case series, researchers described highly variable manifestations, including autoimmunity, immunodeficiency, hepatosplenomegaly, pancytopenia, ichthyosiform rash, and arthritis, in patients with DADA2. A thirteen-year-old female patient who was born to consanguineous parents was admitted to our hospital with generalized edema and leg pain. A physical examination revealed splenomegaly and left knee arthritis. Nephrotic-range proteinuria and hypoalbuminemia were present, and a renal biopsy revealed amyloidosis. Despite the absence of periodic fever and livedo reticularis, our patient had suggestive features of DADA2, including low serum immunoglobulin G and immunoglobulin M levels, hepatosplenomegaly, and renal amyloidosis. We found a heterozygote Met694Val mutation in the Mediterranean fever gene and a novel homozygote Thr317Argfs*25 (c.950-950delCys) mutation in the cat eye chromosome region 1 gene. A functional analysis revealed absent plasma adenosine deaminase 2 activity. Canakinumab was administered because of unresponsive proteinuria despite 2 months of treatment with colchicine and methylprednisolone. Proteinuria improved after 7 doses of canakinumab. In conclusion, DADA2 should be considered in the differential diagnosis of renal amyloidosis, particularly in the absence of homozygote Mediterranean fever mutations. Although anti–tumor necrosis factor agents are widely offered in DADA2 treatment, we speculate that canakinumab may be an appropriate treatment of renal amyloidosis in DADA2.

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Section: Figurementioning

confidence: 99%

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab

et al. 2018

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“…Bir çalışmada AAA ile karşılaştırılan JİA, romatoid artrit, vaskülit ve bağ dokusu hastalıkları gibi romatolojik hastalıkların en çok köken aldığı illerin benzer olduğu gösterilmiştir, fakat bu farklı romatolojik olgu grubundan sadece 24'ünün JİA olgusu olduğu bildirilmiştir (7). Ailesel Akdeniz ateşi tanılı olgularda; kronik artritli olguların da görüldüğünü kliniğimizde yaptığımız çalışma ile gösterdik (8). Ülkemizden yapılan bir başka çalışmada ise AAA genetik mutasyonu olan MEFV mutasyonunun JİA'lı olgularda toplumdaki taşıyıcılık oranından daha fazla oranda olduğu gösterilmiştir (9).…”

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Comparison of Familial Mediterranean Fever and juvenile idiopathic arthritis patients according to family origin

et al. 2018

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Amaç: Ailesel Akdeniz ateşi ülkemizde özellikle bazı bölgelerde yoğun olarak görülen genetik temelli bir hastalıktır. Jüvenil idiyopatik artrit çocukluk çağında en çok görülen yangısal kökenli kronik artrit hastalığıdır. Her iki hastalığın da Türkiye'de bölge ve şehirlere göre sıklığını gösteren çalışmalar yeterli değildir. Bu çalışmada amacımız ailesel Akdeniz ateşi ve jüvenil idiyopatik artrit tanılı olguların ailelerini köken aldıkları bölgelere göre karşılaştırmaktır. Gereç ve Yöntemler: Çocuk Romatoloji Bilim Dalı'ndan ailesel Akdeniz ateşi ve jüvenil idiyopatik artrit tanıları ile izlenen olguların dosyaları incelenerek anne ve baba kökenleri kaydedildi. Her iki grup köken aldıkları illere göre karşılaştırıldı. Bulgular: Çalışmada ailesel Akdeniz ateşi tanılı 704 olgu, jüvenil idiyopatik artrit tanılı 204 olgu vardı. Grupların yaş ortalamaları sırasıyla 12,3±4,4 yıl, 12,1±4,8 yıl olarak bulundu. Ailesel Akdeniz ateşi Karadeniz ve İç Anadolu Bölgeleri'nden köken alan olgularda daha sık görülmekte idi. (z değerleri sırasıyla 2,69, 3,69), ailesel Akdeniz ateşi özellikle Kastamonu, Tokat ve Sivas illerinden köken alan olgularda yoğunluk göstermektedir. Jüvenil idiyopatik artrit ise daha çok Marmara Bölgesi ve Güneydoğu Anadolu Bölgesi'nden köken alan olgularda saptandı (z değerleri sırasıyla-4,11,-2,54). Çıkarımlar: Karadeniz Bölgesi ve İç Anadolu Bölgesi kökenli ailelerde anlamlı olarak daha fazla oranda ailesel Akdeniz ateşi olduğu gösterildi. Ailesel Akdeniz ateşi özellikle Kastamonu, Tokat ve Sivas illerinden köken alan olgularda yoğunluk göstermekteydi. Marmara ve Güneydoğu Anadolu Bölgesi kökenli ailelerde jüvenil idiyopatik artrit olguları daha fazla oranda görülmekte idi.

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“…Median patient age was 6.2 years 4-13 at the onset of MTX and 8.4 years [6. [1][2][3][4][5][6][7][8][9][10][11][12][13][14].9] at the latest follow-up. The median disease duration was 2.7 years [2.5-5.3].…”

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confidence: 99%

“…Background: Juvenile idiopathic arthritis (JIA) is the most prevalent paediatric rheumatic disease. 1 Long term complications include physical disability and a decreased quality of life. 2,3 Since the introduction of anti-TNF drugs for JIA, its prognosis has improved significantly.…”

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confidence: 99%

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THU0557 Therapeutic drug monitoring of biologicals in children with juvenile idiopathic arthritis(JIA): an overview of current practice in anti-tnf therapy

Rashid

Schonenberg-Meinema

Vries

et al. 2018

Thursday, 14 June 2018

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BackgroundJuvenile idiopathic arthritis (JIA) is the most prevalent paediatric rheumatic disease.1 Long term complications include physical disability and a decreased quality of life.2,3 Since the introduction of anti-TNF drugs for JIA, its prognosis has improved significantly.1 Personalised medicine is the next step to improve treatment in JIA. Anti-TNF trough levels and demonstration of the presence of anti-drug antibodies (ADA) could help individualise treatment decisions in JIA patients, but evidence supporting this is missing.ObjectivesTo describe cross-sectional data of anti-TNF trough levels and ADA, combined with decision effects, in children with JIA.MethodsPatients‘ records in children with JIA using etanercept, adalimumab or infliximab were retrospectively checked for measurements of anti-TNF trough levels and ADA. Anti-TNF trough concentrations and ADA were measured using an enzyme-linked immunosorbent assay (ELISA) and antigen-binding test. Data on age, sex, JIA subtype, reason for testing and the decision effect of trough level or presence of ADA on the current therapy were collected.ResultsEighty-one anti-TNF trough levels were measured in 45 children with JIA. A wide variety of anti-TNF trough levels was found. Therapeutic drug concentrations, according to adult ranges in RA and IBD,4,5,6 were found in 11 (58%) patients on etanercept (n=19), 2 (14%) on adalimumab (n=14) and 8 (17%) on infliximab (n=48). Four patients on adalimumab and one patient on infliximab showed ADA. All of these five patients had non-detectable drug trough levels. Reasons for testing trough level and/or presence of ADA were loss of response (20%), partial or no response (40%), measurement after dosage increase (2%), remission (17%), uveitis flare (9%) and allergic reaction (11%). Treatment decisions were influenced by trough levels in 70/81 (86.4%) of measurements and in 5/5 (100%) of patients with ADA.Abstract THU0557 – Figure 1Dose vs Concentration (etanercept, adalimumab, infliximab)ConclusionsMeasuring anti-TNF trough levels and ADA was a valuable tool in making personalised treatment decisions in JIA. Treatment changes included dose/frequency increase, or stopping and switching treatment in the presence of ADA combined with undetectable drug levels. More data are needed to access optimal therapeutic drug levels in anti-TNF treatment in JIA and to implement this strategy more widely.References[1] Blazina S, et al. Paediatr Drugs2016;18(6):397–412.[2] Tambralli A, et al. J Rheumatol2013;40(10):1749–55.[3] Haverman L, et al. Rheumatology (Oxford)2012;51(2):368–74.[4] Kneepkens EL, et al. Ann Rheum Dis2015;74(10):1825–9.[5] Pouw MF, et al. Ann Rheum Dis2015;74(3):513–8.[6] Singh N, Dubinsky DC. Gastroenterol Hepatol (NY)2015;11(1): 48–55.Disclosure of InterestNone declared

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Familial Mediterranean fever in childhood: a single-center experience

Cited by 105 publications

References 28 publications

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab

Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab

Comparison of Familial Mediterranean Fever and juvenile idiopathic arthritis patients according to family origin

THU0557 Therapeutic drug monitoring of biologicals in children with juvenile idiopathic arthritis(JIA): an overview of current practice in anti-tnf therapy

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