title: The rate of pyrin mutations in critically ill patients with systemic inflammatory response syndrome and sepsis: a pilot study.
abstract: OBJECTIVE
  The role of individual genetic differences in susceptibility to systemic inflammatory response syndrome (SIRS) and sepsis is generally unrecognized or underestimated. We investigated the rate of pyrin mutations in critically ill patients with SIRS and sepsis, and compared whether carriers for pyrin mutations are associated with respect to the frequency of and certain features of sepsis and SIRS.
  
  
  METHODS
  We tested M694V, M680I, V726A, R761H, and M694I mutations in critically ill patients.
  
  
  RESULTS
  Twenty-four of 80 (30%) critically ill patients were found to carry some pyrin mutations; none had a history compatible with familial Mediterranean fever. We also found a high frequency of carriers in patients having pneumonia (30.3%), urinary tract infection (29.4%), and acute pancreatitis (30.8%). When we compared our results with the pyrin mutation carrier rate of a healthy Turkish population (10%), the rate of pyrin mutations in all patients (p < 0.001), and patients with urinary tract infection (p <0.001), acute pancreatitis (p <0.001), and pneumonia (p < 0.001) were found to be significantly high. The white blood cell count, erythrocyte sedimentation rate, lactic dehydrogenase, and rate of fever and pulse were significantly higher, whereas systolic and diastolic blood pressure and albumin levels were significantly lower in patients with pyrin mutation compared to those without the mutation.
  
  
  CONCLUSIONS
  Our results showed that critically ill patients with SIRS and sepsis have increased prevalence of pyrin mutations, and patients with SIRS and sepsis carrying the pyrin mutation seem to be highly susceptible for a severe disease course.
authors: Department of Internal Medicine, Gülhane Military Medical Academy, Ankara, Turkey. bkoc@gata.edu.tr
authors: Bayram
authors: B
authors: Koc
authors: Cagatay
authors: C
authors: Oktenli
authors: Fatih
authors: F
authors: Bulucu
authors: Nuri
authors: N
authors: Karadurmus
authors: S Yavuz
authors: SY
authors: Sanisoglu
authors: Davut
authors: D
authors: Gul
mesh_terms: D000328:Adult; D000368:Aged; D016638:Critical Illness; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D010865:Pilot Projects; D000071198:Pyrin; D018805:Sepsis / Q000235:genetics*; D012720:Severity of Illness Index; D018746:Systemic Inflammatory Response Syndrome / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin