ISSN: 2251-8363    eISSN: 2251-8819  
J Nephropathol. 2018;7(2):45-50.
doi:10.15171/jnp.2018.13

Original Article

Mediterranean fever gene mutations in patients with idiopathic mesangial proliferative glomerulonephritis

Jalal Etemadi 1, Taraneh Majidi 1, Roza Motavalli 2, Mortaza Bonyadi 3, Sepideh Zununi Vahed 1, Behzad Zaker 1, Mohammadreza Ardalan 1 *

1 Kidney Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
2 School of Advanced Biomedical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran
3 Center of Excellence for Biodiversity, Faculty of Natural Sciences, Tabriz University of Medical Sciences, Tabriz, Iran
*Corresponding author: Prof. Mohammadreza Ardalan, Email: ardalan34@yahoo.com

Abstract

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 endemic population.

Implication for health policy/practice/research/medical education:

In the present study we aimed to examine the impact of a panel of MEFV gene (M680I, R761H, M694V, R408Q, E148Q, A744S, F479L, P369S, V726A, M694I, and E167D) polymorphisms on patients with mesangial proliferative glomerulonephritis. In patients with MePGN and heterozygous mutations of MEFV gene, a lower therapeutic response was observed. Combination therapy with antiproteinuric treatment is suggested to be a valuable therapeutic strategy in MEFV positive mutation- MePGN patient.

Please cite this paper as: Etemadi J, Majidi T, Motavalli R, Bonyadi M, Zununi Vahed S, Zaker B, et al. Mediterranean fever gene mutations in patients with idiopathic mesangial proliferative glomerulonephritis. J Nephropathol. 2018;7(2):45-50. DOI: 10.15171/jnp.2018.13.

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Submitted: 15 Aug 2017

Accepted: 21 Sep 2017
First published online: 13 Dec 2017
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