A CASE OF HENOCH-SCHONLEIN PURPURA WITH P369S MUTATION IN MEFV GENE (CASE REPORT)

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ERTAN PELIN; TEKIN GOKHAN; EVIRGEN SAHIN GULSEREN; KASIRGA ERHUN; TANELI FATMA; KANDIOGLU ALI RIZA; SOZERI BETUL

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Journal: Iranian Journal of Pediatrics Year:2011 | Volume:21 | Issue:2 Page(s): 244-248

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Title

A CASE OF HENOCH-SCHONLEIN PURPURA WITH P369S MUTATION IN MEFV GENE (CASE REPORT)

Author(s)

Keywords

HENOCH-SCHONLEIN PURPURA

FAMILIAL MEDITERRANEAN FEVER

P369S MUTATION

MEFV GENE

Abstract

Background: HENOCH-SCHONLEIN PURPURA (HSP) is the most common vasculitis of childhood. HSP can affect multiple organs presenting with a characteristic rash in most of the patients. FAMILIAL MEDITERRANEAN FEVER (FMF) is an inherited inflammatory disease common in mediterranean populations. HSP is the most common vasculitis seen in children with FMF.Case Presentation: A 16 year old boy was referred with history of abdominal pain lasting for 20 days. He was hospitalized and had appendectomy. Due to the persistence of his abdominal pain after surgery he was admitted to our hospital. His physical examination showed palpable purpuric rashes symmetrically distributed on lower extremities. Abdominal examination revealed periumbilical tenderness. Laboratory tests showed elevated erythrocyte sedimentation rate, Creactive protein and fibrinogen. Urinalysis revealed microscopic hematuria and severe proteinuria.The fecal occult blood testing was positive. Based on these clinic findings, the patient was diagnosed as HSP with renal, gastrointestinal tract and skin involvement. We performed DNA analysis in our patient because he had diagnosis of vasculitis with severe symptoms and found that he was carrying heterozygote P369S MUTATION.Conclusion: Our case is noteworthy as it indicates that it may be important not to overlook presence of FMF mutations in patients with a diagnosis of severe vasculitis.

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APA: Copy

ERTAN, PELIN, TEKIN, GOKHAN, EVIRGEN SAHIN, GULSEREN, KASIRGA, ERHUN, TANELI, FATMA, KANDIOGLU, ALI RIZA, & SOZERI, BETUL. (2011). A CASE OF HENOCH-SCHONLEIN PURPURA WITH P369S MUTATION IN MEFV GENE (CASE REPORT). IRANIAN JOURNAL OF PEDIATRICS, 21(2), 244-248. SID. https://sid.ir/paper/585221/en

Vancouver: Copy

ERTAN PELIN, TEKIN GOKHAN, EVIRGEN SAHIN GULSEREN, KASIRGA ERHUN, TANELI FATMA, KANDIOGLU ALI RIZA, SOZERI BETUL. A CASE OF HENOCH-SCHONLEIN PURPURA WITH P369S MUTATION IN MEFV GENE (CASE REPORT). IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2011;21(2):244-248. Available from: https://sid.ir/paper/585221/en

IEEE: Copy

PELIN ERTAN, GOKHAN TEKIN, GULSEREN EVIRGEN SAHIN, ERHUN KASIRGA, FATMA TANELI, ALI RIZA KANDIOGLU, and BETUL SOZERI, “A CASE OF HENOCH-SCHONLEIN PURPURA WITH P369S MUTATION IN MEFV GENE (CASE REPORT),” IRANIAN JOURNAL OF PEDIATRICS, vol. 21, no. 2, pp. 244–248, 2011, [Online]. Available: https://sid.ir/paper/585221/en

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