Background: Familial Mediterranean Fever (FMF) is the most common inherited
autoinflammatory disease. Kidney involvement in FMF is usually attributed to secondary
amyloidosis. Non-amyloid glomerular involvement has also been reported.
Objectives: We suppose that heterozygous mutation of Mediterranean fever (MEFV) gene
could be the underlying cause in some cases of mesangial proliferative glomerulonephritis
(MePGN) in FMF endemic area.
Materials and Methods: This prospective study was done between 2013 and 2015 in NorthWest
of Iran among the Azari-Turkish population. A panel of MEFV gene including
M680I, R761H, M694V, R408Q, E148Q, A744S, F479L, P369S, V726A, M694I, and E167D
were studied in a group of patients with idiopathic MePGN. Clinical characteristics and
therapeutic responses were compared between those with and without a mutation. A total
of 39 idiopathic MePGN patients and 156 healthy subjects were studied.
Results: Heterozygote mutations of MEFV gene were detected in 11/39 (28.2%) of MePGN
patients and 46/156 (17.3%) of controls. Clinical response regarding 24 hours urine protein
excretion was significant in mutation-negative patients after 6 months of follow-up.
Conclusions: This study shows a possible underlying role of heterozygous MEFV gene
mutation in the clinical course of some case of idiopathic MePGN, particularly in FMF