نتایج جستجو برای: familial mediterranean fever
تعداد نتایج: 183853 فیلتر نتایج به سال:
A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Mediterranean fever gene (MEFV) analysis showed that he was heterozygous for mutations in exon 2 (E148Q/...
Familial Mediterranean fever (FMF) is an autoinflammatory disorder with autosomal recessive inheritance, characterized by recurrent fever and episodes of serositis. The condition is known to be caused by mutations in the MEFV (Mediterranean FeVer) gene, located in the short arm of chromosome 16. While more than 310 sequence variants in the MEFV gene have been described to date, the diagnosis is...
Introduction Ectodermal dysplasia (ED) is a clinically heterogeneous condition characterized by the abnormal development of two or more ectoderm-derived structures. Mutations in ED1 gene, (Xq12-13.1), are the most frequent cause. X-linked Hypohidrotic Ectodermal Dysplasia (XL-HED) is characterized by association of sparse hair, abnormal or missing teeth and variable inability to sweat that may ...
postoperative respiratory distress and pulmonary edema can be seen after a wide variety of serious clinical situations, or rare diseases such as familial mediterranean fever (fmf). fmf is a multisystemic disorder characterized by recurrent bouts of fever and pain due to inflammation of the peritoneum, synovia, or pleura. we report a case with history of fmf who developed postoperative respirato...
Results Of the 37 patients 19(52.8%) are females, 18(47.2%)are males and the age ranged from 2 to16. A positive family history of FMF was noted in 5(13.5%).Two patient has developed amyloidosis(mutationM694V/M694V). 27 of the patients had mutation M694V/M694V. 3 had mutation M680i/M694V. Another had M680I/M964V, M6801c/R761H, M680I/V726A, E148Q/M694V,M964V/ WT. We have not colchicines resistant...
Familial Mediterranean fever (FMF) is the most common Mendelian autoinflammatory disease, characterized by uncontrolled activation of the innate immune system that manifests as recurrent brief fever and polyserositis (e.g., peritonitis, pleuritic, and arthritis). FMF is caused by autosomal recessive mutations of the Mediterranean fever gene, MEFV which encodes the pyrin protein. Although FMF pr...
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