Biopsy Proven Non-Amyloid Glomerular Diseases in Patients With Familial Mediterranean Fever

Abstract

treatment, patients with more aggressive kidney involvement may require immunosuppressive therapy. Further studies are needed for revealing the relationship between FMF gene mutation and nonamyloid glomerular diseases.© 2015 ACT. All rights reserved. . Mutations of the MEFV gene, on the short arm of chromosome 16, codes for pyrin or marenostrin proteins is responsible for the disease. The MEFV mutation is found in less than 70% of patients diagnosed with FMF. Four mutations have been defined in 85% of patients from the mentioned 4 ethnic groups (M694V, M680I, M694I V726A) [3][4][5] . AA type amyloidosis is the result of serum amyloid A protein deposition in tissues. It is the best understood and the most serious reason for kidney failure in patients with FMF. In a report from Turkey, amyloidosis rates among FMF patients were found to be 7% [6] . There is no publication proving an increase of glomerulonephritis among FMF patients. ABSTRACT AIM: Kidney involvement is the most serious organ involvement of Familial Mediterranean Fever (FMF), while the most common cause is AA type amyloidosis with serum amyloid AA deposition. However, vasculitis and other types of glomerulonephritis (GN) also have been reported. With this study we evaluated biopsy proven non-amyloid glomerular diseases in patients with FMF. METHODS: At our Nephrology clinic, total 950 patients followed by diagnosis of FMF have been evaluated. Nine patients who had positive proteinuria ( >500 mg/day) but had negative amyloidosis in the tissue biopsy were made renal biopsy. RESULTS: Nine patients underwent a renal biopsy, two patients were found to have IgA nephropathy (IGAN), three mesangioproliferative glomerulonephritis (MsPGN), three membranous glomerulonephritis (MGN) and one had immune complex glomerulonephritis. Two patients with IGAN and one patient with MGN with non-nephrotic proteinuria exhibited significant improvement with colchicine and angiotensin receptor blocker (ARB) therapy. Other patients were treated with colchicine, an ARB and immunosuppressive drugs. Upon evaluation for the FMF gene mutation, different mutations have been found for the same glomerulonephritis type. CONCLUSIONS: Other glomerular causes also must be investigated alongside amyloidosis in the case of kidney involvement in FMF patients. While patients with IGAN and other glomerulonephrities with non-nephrotic proteinuria can respond well to colchicine

Clinicopathological Assessment of Kidney Biopsies in Children with Familial Mediterranean Fever: A Single-Center Experience

“…The association between MEFV gene mutations and types of glomerulopathy in FMF is not well-known. Various MEFV genotypes in FMF patients with the same type of glomerulopathy were shown [16]. In our study, p.M694V mutations were more frequently associated with AN than other mutations.…”

“…The uninhibited inflammation in FMF with abnormal response to antigens and complement consumption during attacks might facilitate the development of glomerular disease [9]. It is suggested that an immunological mechanism may play a role in the pathogenesis of this coexistence [12,15,16]. Various types of GN have been reported in FMF patients [9,12,15,17].…”

Evaluation of 61 Secondary Amyloidosis Patients: A Single-Center Experience from Turkey

“…Amyloidosis did not develop in E148Q mutations [22]. Although heterozygous E148Q mutation was found in non-amyloid glomerular diseases [23,24], there is still no data about whether heterozygous E148Q mutation is an amyloidosiscausing mutation. In their study, E148Q was found as compound heterozygous with M694V mutation in 2 cases [26].…”

The spectrum of urological disease in familial Mediterranean fever: amyloidosis and beyond

“…34 Although it is not preferred in suspected renal amyloidosis, biopsy would help to determine if the proteinuria was related to amyloidosis (60% of patients) or to NAKD, as treating NAKD would include immunosuppressive agents. 49,50 Renal amyloid prognostic score (RAPS) RAPS was developed to standardize histopathological evaluation and grading of renal amyloidosis, a scoring and grading system which evaluates pattern and quantity of amyloid deposition in each compartment of kidney together with tubulointerstitial changes. 51 Renal survival in patients of FMF and amyloidosis can be predicted according to the RAPS grading.…”