scholarly journals Familial Mediterranean fever caused by homozygous E148Q mutation complicated by Budd-Chiari syndrome and polyarteritis nodosa

Rheumatology ◽  
2010 ◽  
Vol 50 (3) ◽  
pp. 624-626 ◽  
Author(s):  
A. S. I. Standing ◽  
D. Eleftheriou ◽  
H. J. Lachmann ◽  
P. A. Brogan
2009 ◽  
Vol 49 (4) ◽  
pp. 481-484 ◽  
Author(s):  
Sinan Sari ◽  
Odul Egritas ◽  
Aysegul Bukulmez ◽  
Buket Dalgic ◽  
Oguz Soylemezoglu

2016 ◽  
Vol 2016 ◽  
pp. 1-3 ◽  
Author(s):  
Yunus Ugan ◽  
Atalay Doğru ◽  
Hüseyin Şencan ◽  
Mehmet Şahin ◽  
Şevket Ercan Tunç

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 still established clinically. FMF may be accompanied by sacroiliitis and various forms of vasculitis. The most common forms of associated vasculitis are Henoch-Schonlein purpura and polyarteritis nodosa (PAN). We have presented here a fairly rare case of FMF, accompanied by both sacroiliitis and PAN.


2018 ◽  
Vol 60 (3) ◽  
pp. 326 ◽  
Author(s):  
İbrahim Gökçe ◽  
Ülger Altuntaş ◽  
Deniz Filinte ◽  
Harika Alpay

Author(s):  
yesim ozdemir atikel ◽  
Betul Emine Derinkuyu ◽  
Sevcan Bakkaloğlu

The homozygous M694V mutation in the MEFV gene may cause an augmented response to the streptococcal infection that plays a role in the development of APSGN and PAN. Both clinical manifestations may occur simultaneously after streptococcal infection in a child who is previously healthy but carries a MEFV mutation.


2004 ◽  
Vol 19 (5) ◽  
pp. 536-538 ◽  
Author(s):  
Sevcan A. Bakkaloglu ◽  
Sule Muza� ◽  
Sergin Akpek ◽  
Oguz S�ylemezoglu ◽  
Necla Buyan ◽  
...  

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