MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

Salah, Samia; Rizk, Samia; Lotfy, Hayam M.; Houchi, Salma El; Marzouk, Huda; Farag, Yomna

doi:10.1186/1546-0096-12-41

Cited by 19 publications

(16 citation statements)

References 23 publications

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“…FMF has been reported more frequently in patients who had HSP than in the general population. MEFV mutations may be related to HSP susceptibility in children [ 24 ]. Salah et al found heterozygous mutations of V726A and E148Q to be the most common in children who also had HSP [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

et al. 2015

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BackgroundFamilial Mediterranean fever (FMF) is one of the most frequent genetic diseases encountered in the Mediterranean region. We aimed to investigate the correlation between genetic mutations and the clinical findings in 562 patients with FMF.MethodsIn this retrospective cross-sectional study conducted with patients’ files between 2006, and 2013, reverse hybridization assay for MEFV gene mutations was used and the 12 most frequent mutations were screened. Mutation types and clinical findings were compared with variance analysis.ResultsThe mean age was 6.9 ± 3.4 years (range, 1.8-11.6 years). The most common symptom was fever (97.3 %). Thirty-four of the patients (6.04 %) were admitted with periodic fever only. Of these patients, M694V was the most common mutation type (73.5 %). The percentage of the patients predominantly presenting with recurrent abdominal pain was 77.78 % and the most frequent mutations were M694V and E148Q. The rate of arthritis and arthralgia was significantly higher in patients with M694V and E148Q mutations. Chest pain was reported more often in patients homozygous for M694V (61.4 %). Pericardial effusion was documented in the echocardiography of 10.9 % of the 229 children with chest pain. Some patients had both FMF and Henoch Schönlein purpura (HSP), and were more likely to harbor either homozygote M694V or E148Q mutations. The frequency of episodes was higher in patients with homozygous M694V mutations (number of attacks = 4.4 ± 1.6/month). Proteinuria was detected in 106 patients of cases (29.2 %), at an average of 854 ± 145 mg/L. Most of the patients with proteinuria and elevated serum amyloid-A had homozygous M694V mutation.ConclusionThe most common mutation in children in Turkey with FMF is the M694V mutation. Recurrent abdominal pain, arthritis or arthralgia, chest pain, and pericarditis were commonly seen in patients with M694V and E148Q mutations.

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Section: Discussionmentioning

confidence: 99%

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

et al. 2015

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“…The inflammatory regulation does not occur correctly in mutated condition. More than 342 sequence variants have already been identified on MEFV gene [4–7].…”

Section: Introductionmentioning

confidence: 99%

MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Salehzadeh

Sharghi

Motayayagheni

et al. 2019

Genetics Research International

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Background and Objective. MEFV gene codes the pyrine protein that has major role in FMF as an autoinflammatory disorder. FMF is more often seen in the people of the Mediterranean area. Considering the significant role of MEFV gene in many rheumatologic diseases and even nonrheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and normal population of this area. Methods. 224 healthy (unaffected or control) people based on the Cochran formula entered this study. The blood samples were screened for the 12 common MEFV gene variants polymorphisms according to manufacturer’s instructions (FMF Strip Assay, Vienna lab, Vienna, Austria). They filled a questionnaire containing required information. All healthy control cases initially were evaluated for FMF symptoms and signs in themselves and their first-degree relatives based on clinical criteria. All data were analyzed by simple statistical method. Results. Among 224 healthy control cases, 113 (50.4%) were male and 111 (49.6%) female. There were MEFV variants alleles in 57 patients (25%): 28 were male (49.1%) and 29 female (50.9%). The most frequent variants were E148Q (18.3%), followed by P369S (3.1%), V726A (2.2%), A744S (1.3%), and F479L, M694V, and R761H (0.8%), and eventually K695R (0.4%), respectively. Some variants such as M694I, M680I (G/C), M680I (G/A), and I692del were not seen in these samples. There were compound heterozygote variations of E148Q/P369S, E148Q/V726A, E148Q/P369S, and P369S/F479L in normal population without any findings in favor of FMF. Conclusion. Twenty-five percent of the normal populations of the northwest of Iran are carrying MEFV gene variants, and the most common mutation is E148Q (18.3%). The presence of M694I, M680I (G/C), M680I (G/A), I692del mutations in the normal population can be interpreted cautiously, while particular compound heterozygote mutations can be considered as normal variants.

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“…[10,14] ve E148Q olarak en sık görülen mutasyonlar değişmektedir. [17,18] Çalışmamızda Ailevi Akdeniz Ateşi tanısı alan 15 hastada en sık gözlenen Ailevi Akdeniz Ateşi mutasyonu M694V idi.…”

Section: Yöntemunclassified

“…En önemli klinik tanısal özellikleri nontrombositopenik purpura, artrit, karın ağrısı, böbrek tutulumudur. [1] Etiyolojisi tam olarak aydınlatılamamakla birlikte, sıklıkla üst solunum yolu enfeksiyonları sonrası immünglobülin A içeren immün komplekslerin damar duvarında birikmesi sonucunda hastalığın ortaya çıktığı ve insidansının 100000'de [6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] olduğu bildirilmektedir. [2][3][4][5] Genellikle kendini sınırlayıcı bir süreç olarak tanımlansa da gastrointestinal ve renal tutulum başta olmak üzere organ tutulumları hayatı tehdit edecek düzeyde olabilmekte, özellikle renal tutulum, uzun dönem prognozu belirleyici olmaktadır.…”

Section: Introductionunclassified

Evaluation of epidemiological, clinical and laboratory findings in Henoch Schönlein purpura

Akça¹

2020

tahd

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Schönlein purpurası tanısı alan 364 hasta retrospektif olarak incelendi. Hastaların demografik özellikleri, hastalığın sistemik etkileri, laboratuvar bulguları ve organ tutulumları kaydedildi. Bulgular: Hastaların %56,3'ü erkek (n=205), %43,7'si (n=159) kız, yaş ortalaması 8,32 ± 3,38 yıl idi. Tüm hastalarda hastalık seyri boyunca karakteristik palpabl purpura izlendi. Hastaların %57,1'inde (n=208) eklem tutulumu, %50,8'inde (n=185) gastrointestinal sistem tutulumu, %29,7'sinde (n=108) renal tutulum, %1,3'ünde (n=5) skrotal ve %0,8'inde (n=3) merkezi sinir sistemi tutulumu tespit edildi. Hastaların % 4,1'inde (n=15) Ailevi Akdeniz Ateşi mevcuttu. Yaş ve trombositozun renal tutulum için risk faktörü olduğu, ayrıca lökositozun da gastrointestinal tutulum için risk faktörü olduğu saptandı. Sonuç: Çalışmamızda cilt tutulumundan sonra en sık eklem tutulumu gözlenmiş olup böbrek tutulumu %29,7 sıklıkta saptanmıştır. Yaş ve trombositozun böbrek tutulumu, lökositozun ise gastrointestinal tutulum açısından risk faktörü olduğu saptanmıştır.

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MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura

Cited by 19 publications

References 23 publications

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever

MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Which Is Near to Mediterranean Sea

Evaluation of epidemiological, clinical and laboratory findings in Henoch Schönlein purpura

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