Related Experiment Video
Updated: Feb 10, 2026
Whole-body PET/MRI of Pediatric Patients: The Details That Matter
Published on: December 19, 2017
MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura
Emrah Can1, Zubeyde Kılınç Yaprak2, Şahin Hamilçıkan2
1University Of Health Sciences, Bagcılar Training and Research, Hospital, Istanbul, Turkey.
Insights
MEFV gene mutations were investigated in pediatric Henoch-Schönlein purpura (HSP) patients. The study found no correlation between MEFV gene mutations and HSP clinical course or complications in Turkish children.
Area of Science:
- Genetics
- Pediatrics
- Rheumatology
Background:
- Henoch-Schönlein purpura (HSP) is a common vasculitis in children.
- The role of MEFV gene mutations in HSP pathogenesis and prognosis is not fully understood.
Purpose of the Study:
- To determine the frequency of MEFV gene mutations in pediatric HSP patients.
- To assess the impact of MEFV gene mutations on HSP prognosis and complications.
Main Methods:
- A cross-sectional study included 80 pediatric patients (2-11 years) diagnosed with HSP.
- Six common MEFV gene mutations were screened: M694V, M680I, A744S, R202Q, K695R, and E148Q.
Main Results:
- MEFV gene mutations were detected in 45% of patients (heterozygous in 22%, homozygous in 2%, compound heterozygous in 15%).
- The most common mutations were E148Q and M694V.
- No significant correlation was found between MEFV gene mutations and renal/gastrointestinal involvement, disease recurrence, complications, or steroid use.
Conclusions:
- MEFV gene mutations are present in a subset of Turkish pediatric HSP patients.
- The presence of MEFV gene mutations does not appear to influence the clinical course or complication development in this population.
Objective:
To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. These cases were investigated for 6 MEFV gene mutations (M694V, M680I, A744S, R202Q, K695R, E148Q).
Results:
Eighty cases were included in the study of which 55% were male (n= 44). The mean age was 6.44 ± 2.52 years. Disease recurrence occurred in 9 patients, invagination in 5 patients and convulsion in 1 patient during follow-up. Approximately half of the patients received steroids. The MEFV gene mutations was not detected in 44 (55%) of the patients. There was a heterozygous mutation in 19 (22%). E148Q was found in 8 patients, M694V in 5 patients, A744S in 4 patients, and the R202Q heterozygous mutation in 2 patients. The M608I homozygous mutation was detected in 1 patient and the M694V homozygous mutation in 1 patient. The compound heterozygous MEFV gene mutations was found in 15 patients. The presence of the MEFV gene mutations was not correlated with the frequency of renal and gastrointestinal involvement and prognosis, the development of complications and the use of steroids.
Conclusion:
The presence of the MEFV gene mutations does not correlate with the clinical course and complication in Turkish pediatric patients with HSP.
More Related Videos
Related Concept Videos
01:09Mutation, Gene Flow, and Genetic Drift
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
01:17Pharmacokinetics in Pediatric Patients: Drug Distribution
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption
01:39Mutations