典型文献
A novel plasminogen mutation in a child with hereditary periodic syndrome: A case report
文献摘要：
Introduction::Plasminogen (PLG) deficiency is an ultrarare disease. The reported manifestations in literature were linked to pseudomembrane formation and mucosal surfaces inflammation. Recently, PLG, its activators and its receptors have gained more attention in inflammation regulatory processes, including the release of proinflammatory signaling molecules, and thus its role is believed to have clinical implications beyond what has been known.Case Report::We present a child with recurrent fever who, although managed initially as familial Mediterranean fever, later on, developed a constellation of findings that were not explained by a classified autoinflammatory disease. Genetic testing revealed a novel homozygous PLG mutation (
PLG: c.466G>A: p.D156N) and a likely benign heterozygous
MEFV gene variant. We propose that the
PLG mutation is responsible for the clinical manifestations, which may or may not be exacerbated by the coexistence of the
MEFV variant. A relationship between the PLG pathway, inflammation, and FMF severity has been addressed recently in several studies.
Conclusion::This report highlights the recently recognized role of the PLG pathway in inflammatory diseases and describes a potentially new presentation of PLG pathogenesis. Further studies are needed to confirm this finding and allow for a more definitive conclusion.
文献关键词：
autoinflammatory disease;familial Mediterranean fever;MEFV gene
;plasminogen;PLG mutation
中图分类号：
作者姓名：
Akbar Lujayn;Alazami Anas M.;AlSaleem Alhanouf;Alsonbul Abdullah;Al-Mayouf Sulaiman M.
作者机构：
Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
文献出处：
引用格式：
[1]Akbar Lujayn;Alazami Anas M.;AlSaleem Alhanouf;Alsonbul Abdullah;Al-Mayouf Sulaiman M.-.A novel plasminogen mutation in a child with hereditary periodic syndrome: A case report)[J].风湿病与自身免疫（英文）,2022(04):237-243
A类：
Plasminogen,ultrarare,pseudomembrane,466G,D156N,heterozygous
,gene
B类：
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AB值：
0.550127
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