MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura

Can, Emrah; Yaprak, Zubeyde Kılınç; Hamilçıkan, Şahin; Erol, Meltem; Gayret, Özlem Bostan

doi:10.5546/aap.2018.eng.e385

Cited by 8 publications

(13 citation statements)

References 29 publications

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“…Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Familial Mediterranean Fever and Rheumatic Diseases…”

Section: Resultsmentioning

confidence: 99%

“…Patients with late-onset have lower rates of mutation in exon 2 and exon 10 of the MEFV gene. They display higher rates of musculoskeletal system Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Tezcan, et al Data were described as number (n) and percentage (%). p-value1 shows the comparison of SPA, vasculitis, and STD groups (gout and JIA were excluded from statistical analysis due to the small sample size) and was calculated using Fisher-Freeman-Halton exact test.…”

Section: Discussionmentioning

confidence: 99%

“…It is estimated that high IL-1 levels in FMF patients may lead to Th17 activation and direct stimulation of keratinocytes. The level Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Familial Mediterranean Fever and Rheumatic Diseases of IL-1 produced by active T lymphocytes is high in psoriasis lesions. 21 FMF and IBD have many similar clinical and biological properties and may accompany FMF.…”

Section: Discussionmentioning

confidence: 99%

“…24,26 It has been reported that patients with HSP with MEFV mutations are younger and have higher rates of edema and acute phase responses than those without such mutations. Can et al 27 stated that 45% of patients with HSP had MEFV mutations, but these mutations were unrelated to the clinical course and complications. Some authors suggested that HSP-like vasculitis in FMF is a specific feature of FMF.…”

Section: Discussionmentioning

confidence: 99%

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Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Tezcan

Gülcemal

Limon

et al. 2022

Turkish Journal of Internal Medicine

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Background Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease affecting mainly the ethnic groups of the Mediterranean basin. It has been reported that it can coexist with various systemic inflammatory diseases. This study aimed to obtain information on rheumatic diseases that accompany FMF and evaluate the relation between FMF and such diseases. Material and MethodsEighty-four patients diagnosed with FMF and have rheumatic disease comorbidity in the rheumatology clinic between January 2018 -March 2020 were included in this study. ResultsThe most common accompanying rheumatic disease was spondyloarthritis (SpA) with 36 patients. Vasculitis was the second common disease accompanying FMF with 22, followed by connective tissue disease (CTD) in 18, juvenile idiopathic arthritis in 4, gout in 3, and hidradenitis suppurativa in 1 patients. The most common MEFV mutation observed was M694V. The rate of patients in the SPA group with signs of fever was significantly higher than those in the vasculitis group. The median C-reactive protein value of the patients in the vasculitis group was significantly higher than the CTD group. There was no statistically significant difference between disease groups regarding to other clinical manifestations and laboratory findings. There was no statistically significant association between disease groups and MEFV mutations regarding to genotype and allelic distribution. Conclusions In this study, the relation between FMF and various rheumatic diseases was determined. Two new conditions, eosinophilic granulomatous polyangiitis and scleroderma were detected. The associations may be just coincidental or an extension of the common underlying pathology. To be aware of this association is important to early diagnosis and appropriate treatment.

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“…Turk J Int Med 2022;4(1): [25][26][27][28][29][30][31][32][33][34][35][36] Familial Mediterranean Fever and Rheumatic Diseases…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Tezcan

Gülcemal

Limon

et al. 2022

Turkish Journal of Internal Medicine

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“…Mutation of MTHFR gene (encodes methylenetetrahydrofolate reductase), and factor V Leiden may be associated with clinical symptoms (36,45) (46). Association of Mediterranean fever (MEFV) gene mutation and IgAV has been reported in Mediterranean population (47)(48)(49)(50)(51)(52)(53). IgA vasculitis can occur at 2.7-7% patients with familial Mediterranean fever (46).…”

Section: Genetics and Igavmentioning

confidence: 99%

Pathogenesis of IgA Vasculitis: An Up-To-Date Review

Song

Huang

et al. 2021

Front. Immunol.

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Immunoglobin A (IgA) vasculitis (IgAV), formerly called the Henoch-Schönlein purpura (HSP), is a small vessel vasculitis, characterized by IgA1-dominant immune deposition at diseased vessel walls. IgAV is the most common form of vasculitis in children; typical symptoms include palpable purpura, arthritis or arthralgia, abdominal pain, and hematuria or proteinuria. Galactose-deficient IgA1 is detected in the tissues of the kidney and skin in patients with IgAV; it forms immune complexes leading to subsequent immune reactions and injuries. This report provides the recent advances in the understanding of environmental factors, genetics, abnormal innate and acquired immunity, and the role of galactose-deficient IgA1 immunocomplexes in the pathogenesis of IgAV.

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Associations of MEFV gene variants, IL-33, and sST2 with the risk of Henoch-Schönlein purpura in children

Ruan,

Xie

2024

Heliyon

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MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura

Abstract: The presence of the MEFV gene mutations does not correlate with the clinical course and complication in Turkish pediatric patients with HSP.

Cited by 8 publications

References 29 publications

Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Relationship Between Familial Mediterranean Fever and Other Rheumatic Diseases: Coincidence or Coexistence?

Pathogenesis of IgA Vasculitis: An Up-To-Date Review

Associations of MEFV gene variants, IL-33, and sST2 with the risk of Henoch-Schönlein purpura in children

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