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

Simple item page
dc.contributor.authorErtan P.
dc.contributor.authorTekin G.
dc.contributor.authorŞahin G.E.
dc.contributor.authorKasirga E.
dc.contributor.authorTaneli F.
dc.contributor.authorKandioǧlu A.R.
dc.contributor.authorSözeri B.
dc.date.accessioned2024-07-22T08:20:35Z
dc.date.available2024-07-22T08:20:35Z
dc.date.issued2011
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.
dc.identifier.issn10184406
dc.identifier.urihttp://akademikarsiv.cbu.edu.tr:4000/handle/123456789/18234
dc.language.isoEnglish
dc.publisherBrieflands
dc.subjectC reactive protein
dc.subjectcell protein
dc.subjectcolchicine
dc.subjectcyclophosphamide
dc.subjectfibrinogen
dc.subjectimmunoglobulin G
dc.subjectimmunoglobulin M
dc.subjectMediterranean fever protein
dc.subjectsteroid
dc.subjectunclassified drug
dc.subjectabdominal tenderness
dc.subjectadolescent
dc.subjectanaphylactoid purpura
dc.subjectarticle
dc.subjectcase report
dc.subjectclinical feature
dc.subjectdisease association
dc.subjectdisease classification
dc.subjectdisease predisposition
dc.subjectdisease severity
dc.subjectDNA determination
dc.subjecterythrocyte sedimentation rate
dc.subjectgastrointestinal disease
dc.subjectgene
dc.subjectgene mutation
dc.subjecthematuria
dc.subjectheterozygosity
dc.subjecthistopathology
dc.subjecthuman
dc.subjecthuman tissue
dc.subjectimmunofluorescence
dc.subjectkidney disease
dc.subjectlaboratory test
dc.subjectmaintenance therapy
dc.subjectmale
dc.subjectmedical history
dc.subjectmediterranean fever gene
dc.subjectoccult blood test
dc.subjectoliguria
dc.subjectphysical examination
dc.subjectproteinuria
dc.subjectskin disease
dc.subjecturinalysis
dc.titleA case of henoch-schönlein purpura with P369S mutation in MEFV gene
dc.typeArticle

Files

Collections

Scopus Koleksiyonu