A case of henoch-schönlein purpura with P369S mutation in MEFV gene

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dc.contributor.authorErtan P.
dc.contributor.authorTekin G.
dc.contributor.authorŞahin G.E.
dc.contributor.authorKasirga E.
dc.contributor.authorTaneli F.
dc.contributor.authorKandioglu A.R.
dc.contributor.authorSözeri B.
dc.date.accessioned2019-10-26T22:16:51Z
dc.date.available2019-10-26T22:16:51Z
dc.date.issued2011
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Henoch-Schönlein 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, C-reactive 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. © 2011 by Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, All rights reserved.en_US
dc.identifier.endpage248en_US
dc.identifier.issn1018-4406
dc.identifier.issn1018-4406en_US
dc.identifier.issue2en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage244en_US
dc.identifier.urihttps://hdl.handle.net/11454/19448
dc.identifier.volume21en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKowsar Medical Publishing Companyen_US
dc.relation.ispartofIranian Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial mediterranean feveren_US
dc.subjectHenoch-schönlein purpuraen_US
dc.subjectMEFV geneen_US
dc.subjectP369S mutationen_US
dc.titleA case of henoch-schönlein purpura with P369S mutation in MEFV geneen_US
dc.typeArticleen_US

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