| Summary: | Introduction: Patients
with Henoch-Shonlein purpura (HSP) have higher rates of Mediterranean
fever (MEFV) mutations comparing general population. To our knowledge, there is
no report in this regard among Azeri Turkish children. In this study, we
evaluated the prevalence of MEFV mutations and their clinical and laboratory
correlations in Azeri Turkish children with HSP.
Methods: In this case-control study, we included 40
unrelated patients from Azeri Turk origin diagnosed with HSP between January
2010 and March 2011. The control group consisted of 100 healthy unrelated
subjects. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral
blood leukocytes using standard protocols. Each sample was initially analyzed
for the five common mutations (M694V, M694I, M680I, V726A and E148Q).
Results: From 40 patients with HSP, 10 patients (25.0%) had
one MEFV mutation. Both patient groups (with and without mutation) were similar
regarding clinical manifestations and age at the onset of disease. Frequency of
female gender was higher in patients with the mutation. MEFV mutations were
found in 26.0% of control group among them 19.2% had V726A and 80.8% had E148Q
mutation. There was no significant difference in total mutations between
patients and controls. Frequency of M680I mutation was significantly higher in
HSP patients than controls (P = 0.020). E148Q mutation was much higher in the
control group than HSP patients, but the difference was not statistically
significant (P = 0.053).
Conclusion: There was no difference in the clinical spectrum
of patients with and without MEFV mutation. M680I mutation may have a probable
predisposing role for HSP.
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