Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura
Section snippets
Subjects
We obtained from the hospital's register the medical histories of 125 children with HSP treated at Rambam Medical Center (Haifa, Israel) between 1986 and 2001. Patients were classified as having HSP if they fulfilled three or more of the criteria proposed by Michel et al33: (1) palpable purpura involving mainly the lower extremities, (2) bowel angina, (3) gastrointestinal bleeding, (4) hematuria (gross or microhematuria), (5) age of onset <20 years, and (6) no previous history of medications
Results
The study group consisted of 52 patients with HSP (34 male patients, 18 female patients), of whom 30 were Arabs and 22 were Jews (Table II). The main demographic and clinical data are shown in Table II. The male:female ratio was 1.9. The mean age at disease onset was 6.7±2.4. Other than purpura, manifested by all patients, joint and gastrointestinal manifestations were especially frequent. Allele and genotype frequencies are shown in Table III Five patients had two mutated alleles, and nine had
Discussion
The frequency of the association between FMF and HSP, the causal relationship of which remains unclear, has been reported extensively.21., 22., 23., 24., 25., 26., 27., 28. In this study, we identified pyrin/marenostrin mutations in several patients with HSP who did not meet the clinical criteria for FMF. Five persons carried two FMF alleles, and nine had one MEFV mutation. Altogether, 19 of the 104 chromosomes studied (1:5.5) bore an MEFV mutation. Most importantly, 10% of our study cohort
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