Epidemiological features of primary glomerular disease in Turkey: a multicenter study by the Turkish Society of Nephrology Glomerular Diseases Working Group.

BACKGROUND: The largest data on the epidemiology of primary glomerular diseases (PGDs) are obtained from the databases of countries or centers. Here, we present the extended results of the Primary Glomerular Diseases Study of the Turkish Society of Nephrology Glomerular Diseases (TSN-GOLD) Working Group. METHODS: Data of patients who underwent renal biopsy and received the diagnosis of PGD were recorded in the database prepared for the study. A total of 4399 patients from 47 centers were evaluated between May 2009 and May 2019. The data obtained at the time of kidney biopsy were analyzed. After the exclusion of patients without light microscopy and immunofluorescence microscopy findings, a total of 3875 patients were included in the study. RESULTS: The mean age was 41.5 ± 14.9 years. 1690 patients were female (43.6%) and 2185 (56.3%) were male. Nephrotic syndrome was the most common biopsy indication (51.7%). This was followed by asymptomatic urinary abnormalities (18.3%) and nephritic syndrome (17.8%). The most common PGD was IgA nephropathy (25.7%) followed by membranous nephropathy (25.6%) and focal segmental glomerulosclerosis (21.9%). The mean total number of glomeruli per biopsy was 17 ± 10. The mean baseline systolic blood pressure was 130 ± 20 mmHg and diastolic blood pressure was 81 ± 12 mmHg. The median proteinuria, serum creatinine, estimated GFR, and mean albumin values were 3300 (IQR: 1467-6307) mg/day, 1.0 (IQR: 0.7-1.6) mg/dL, 82.9 (IQR: 47.0-113.0) mL/min and 3.2 ± 0.9 g/dL, respectively. CONCLUSIONS: The distribution of PGDs in Turkey has become similar to that in other European countries. IgA nephropathy diagnosed via renal biopsy has become more prevalent compared to membranous nephropathy.

The time course of gastric methotrexate intolerance in patients with rheumatoid arthritis and psoriatic arthritis.

OBJECTIVES: This study aimed to evaluate the incidence and the time course of methotrexate (MTX)-associated gastric intolerance in patients with rheumatoid arthritis and psoriatic arthritis. METHODS: Four hundred twenty subjects undergoing MTX treatment for rheumatoid arthritis (n = 346) and psoriatic arthritis (n = 74) were retrospectively assessed. The incidence and time course of gastric MTX intolerance resulting in treatment discontinuation were investigated. In addition, the relations between gastric intolerance and patient characteristics, including gender, age, diagnosis, and rheumatoid factor (RF) positivity, were examined. RESULTS: Overall, oral MTX discontinuation rate due to gastric intolerance was 28.6 %. The time to discontinuation for oral MTX was 8.1 ± 11.5 months on average, with more than half of the discontinuations occurring within the first three months of treatment. Discontinuation was not associated with gender, age, diagnosis, or RF positivity. More than half of the patients that switched to a parenteral treatment regimen (52.6 %, 20/38) could tolerate the agent. CONCLUSIONS: Gastric MTX intolerance usually develops within the first year of treatment and presents a major obstacle to long-term treatment retention in patients with rheumatologic disease. However, parenteral MTX appears to be a good alternative for patients intolerant of oral MTX.

Modified histopathological classification with age-related glomerulosclerosis for predicting kidney survival in ANCA-associated glomerulonephritis.

BACKGROUND: The histopathological classification of ANCA-GN divides patients into four groups based on signs of glomerular injury. However, this classification did not consider age-related glomerulosclerosis. In this study, we aimed to compare the prediction of renal survival between Berden's ANCA-GN histopathological classification and ANCA-GN histopathological classification modified with age-related glomerulosclerosis. METHODS: Between January 2004 and December 2019, 65 patients diagnosed with ANCA-GN were enrolled. Demographic, laboratory, and histopathologic findings were retrospectively analyzed. Renal survival analyses were compared according to classical and modified ANCA-GN histopathological classifications. Multivariate Cox regression analysis for the factors affecting renal survival was performed. RESULTS: In Berden's ANCA-GN histopathological classification, 15 patients were in the focal group, 21 in the crescentic, 21 in the sclerotic, and 8 in the mixed group. The ANCA-GN histopathological classification model generated statistically significant predictions for renal survival (p = 0.022). When the histopathological classification was modified with age-related glomerulosclerosis, eight of the nine patients previously classified in the sclerotic group were classified in the mixed and one in the crescentic groups. Modification of histopathological classification with age-related glomerulosclerosis increases the statistical significance in renal survival analysis (p = 0.009). The multivariate Cox regression analysis showed that the disease-related global sclerotic glomeruli percentage and serum creatinine level were significant independent factors. CONCLUSION: Modification of Berden's ANCA-GN histopathological classification model with age-related glomerulosclerosis may increase the statistical significance of the histopathological classification model.

Diagnosis and endovascular treatment of acute thromboembolic renal artery occlusion presenting with abdominal pain.

Acute renal artery thromboembolic occlusion is seldomly encountered with respect to other central and peripheral ones. Patients may present with non-specific abdominal pain and renal colic. Organ functions can be preserved by means of endovascular treatment when early diagnosis is possible. Acute occlusion of renal arteries must be considered in the differential diagnosis of acute flank pain. This paper presents successful endovascular treatment of thromboembolic renal artery occlusion in two cases.

Tumor necrosis factor-alpha antagonist therapy-induced psoriasis in Turkey: analysis of 514 patients.

OBJECTIVES: New adverse events are being reported with the increased use of anti-tumor necrosis factor (TNF) α therapy. We studied cases of anti-TNFα-induced psoriasis observed in our pool of 514 patients receiving anti-TNFα treatment in Turkey. METHODS: Three rheumatoid arthritis patients and 3 ankylosing spondylitis patients with anti-TNFα-induced psoriasis were included in the study. All patients were examined by a dermatologist, and 3 patients underwent skin biopsy. RESULTS: None of the 6 patients had preexisting psoriasis or a familial history of psoriasis. The earliest and latest occurrences of psoriatic lesions were at the 6th week and 44th month of anti-TNFα therapy, respectively. Psoriasis was severe and refractory in two patients (requiring systemic treatment), while it presented as mild in four patients. Anti-TNFα therapy was totally withdrawn in case 1. In case 2, the treatment was halted for 3 months then switched to another TNFα blocker, and case 3 was switched to another anti-TNFα treatment. The treatment was sustained in the other 3 patients (cases 4, 5, and 6). CONCLUSIONS: TNFα blockers are very effective agents in the treatment of psoriasis, but it is interesting that the same molecules can, paradoxically, induce psoriasis. The occurrence of anti-TNFα-induced psoriasis in six out of 514 patients suggests that the incidence of this adverse reaction is, in fact, as not low as presumed in the literature. In some cases, a severe course of psoriasis may limit the use of these agents.

The effects of vitamin E-coated dialysis membranes on serum paraoxonase activity in hemodialysis patients.

BACKGROUND: Hemodialysis patients are exposed to oxidative stress, which can lead to several complications. We therefore sought to evaluate the effect of using vitamin E-coated dialysis membranes for a period of 3 months on serum paraoxonase activity and oxidative stress markers. METHODS: Twenty patients and 25 healthy controls were included in this study. Hemodialysis patients were evaluated before and after 3 months of treatment with vitamin E-coated dialysis membranes. Plasma malondialdehyde (MDA) levels, as well as the oxidizability of red blood cells (RBCs) and apolipoprotein B-containing lipoproteins (expressed as RBC-MDA and DeltaMDA, respectively) were determined in order to investigate the patients' oxidative status. Plasma vitamin E and vitamin C levels, serum total carotenoid levels and paraoxonase activity were measured to investigate the patients' antioxidative defenses. RESULTS: After 3 months of treatment with vitamin E-coated membranes, vitamin E levels were significantly increased and the oxidizability of RBCs was significantly reduced in the hemodialysis patients. However, there were not any differences from baseline in serum paraoxonase activity, plasma MDA levels or the oxidizability of apolipoprotein B-containing lipoproteins in these patients. CONCLUSIONS: Despite promising improvements in vitamin E levels and the oxidizability of RBCs, the results of this study do not support a satisfactory antioxidative effect of vitamin E-coated dialysis membranes. Further studies are needed to identify antioxidative treatments for hemodialysis patients.

Influence of erythropoietin therapy on serum prohepcidin levels in dialysis patients.

BACKGROUND: Anemia is a common finding in dialysis patients. Recent evidence has accrued that hepcidin, an iron regulatory peptide, may play a crucial role in the pathophysiology of this condition. This study investigated the effect of erythropoietin (EPO) therapy on serum levels of prohepcidin, the pro-hormone of hepcidin, in patients with end-stage renal disease (ESRD) undergoing chronic dialysis treatment. MATERIAL/METHODS: A total of 40 ESRD patients with renal anemia receiving either hemodialysis or peritoneal dialysis were included in this study. The patients were randomly allocated to EPO (subcutaneous 2000 microg three times weekly) plus parenteral iron (n=23) or parental iron only (n=17). Serum prohepcidin levels were measured before and at the end of the study. RESULTS: The two groups were comparable in their demographic and laboratory characteristics. No significant differences were found in hemoglobin, hematocrit, iron store indices, or serum levels of prohepcidin at study entry. Significant increases in both hemoglobin and hematocrit as well as a decrease in serum prohepcidin level were evident in the EPO group at the end of the 6-month follow-up in comparison with their values at study entry compared with the control group (P<0.01). CONCLUSIONS: It is concluded that EPO therapy, besides enhancing erythropoiesis, modulates serum prohepcidin levels in dialysis patients.

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever.

AIM: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. METHODS: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. RESULTS: As a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p<0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p>0.05). CONCLUSIONS: To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.

Acute colchicine intoxication during clarithromycin administration in patients with chronic renal failure.

Colchicine is an effective antiinflammatory medication. It should be used with great caution, however, in patients requiring dialysis. Coadministration of colchicine and macrolides may impair colchicine elimination, resulting in excess drug exposure and toxicity. We report 2 renal failure cases of colchicine intoxication occurring with the administration of clarithromycin.

High prevalence of irritable bowel syndrome and upper gastrointestinal symptoms in patients with chronic renal failure.

BACKGROUND: Gastrointestinal symptoms and psychiatric disorders are common among patients with chronic renal failure since uremia affects all systems as well as the gastrointestinal tract. Irritable bowel syndrome (IBS) is a frequent functional disorder worldwide. We aimed to evaluate the frequency of IBS and upper gastrointestinal symptoms in patients with chronic renal failure (CRF). The relationships between IBS, sex and additional psychiatric disorders in the same patient group were determined and results were compared with controls. METHODS: Ninety-three hemodialysis (HD) and 35 peritoneal dialysis (PD) patients and 51 healthy volunteers were enrolled in this cross-sectional study. They completed the questionnaires that were later evaluated to determine the frequency of IBS in HD, PD and control groups; the frequency of depression and anxiety in these three groups and their relationship to sex. Symptoms of upper gastrointestinal system and their relation to sex were also investigated in all groups. RESULTS: In this study, we have demonstrated that prevalence of IBS in patients with chronic renal failure on hemodialysis or peritoneal dialysis is higher than the controls though the type of dialysis does not seem to influence the IBS prevalence itself. Epigastric pain was more prevalent in HD patients than PD patients. CONCLUSIONS: The present study suggests that though IBS is common in patients with CRF, it is generally underestimated. Type of dialysis does not seem to change the clinical picture much. Accompanying mood disorders must also be taken into consideration.

Acute effect of hemodialysis on arterial elasticity.

BACKGROUND/AIM: Reduced arterial elasticity is an independent predictor of cardiovascular mortality in patients with end-stage renal disease (ESRD). Hemodialysis (HD) treatment per se can bring additional risk factors for vascular disease. Our study was designed to determine whether a single hemodialysis session leads to an acute alteration in parameters of arterial elasticity in ESRD. MATERIALS AND METHODS: In this study, 58 patients undergoing chronic hemodialysis and 29 healthy controls were enrolled. Large artery elasticity index (LAEI) and the small artery elasticity index (SAEI) were measured by applanation tonometry. The acute effect of a hemodialysis session on arterial elasticity indices was assessed by comparison of prehemodialysis and posthemodialysis determinations. RESULTS: At baseline, LAEI did not differ significantly in patients compared with controls. In contrast, the SAEI was significantly lower in patients (4.1 ± 2.6 mL/mmHg x 100) than in healthy individuals (8.9 ± 3.4 mL/mmHg x 100, P < 0.05). In patients with ESRD, no significant changes in LAEI was observed after HD, but SAEI deteriorated significantly (from 4.1 ± 2.6 mL/mmHg x 100 to 3.4 ± 2.3, P < 0.05). CONCLUSION: We conclude that ESRD patients face a significant reduction in SAEI, which is exacerbated by a dialysis procedure.

Changes of plasma free choline and choline-containing compounds' concentrations and choline loss during hemodialysis in ESRD patients.

OBJECTIVES: This study was undertaken to determine the changes in plasma free choline and choline-containing compounds in end stage renal disease (ESRD) and to determine if they were lost into the dialysate during hemodialysis. DESIGN AND METHODS: Plasma and dialysate free choline, phosphocholine and phospholipid-, phosphatidylcholine-, sphingomyelin-bound choline were measured before, during and after hemodialysis. RESULTS: Plasma free and bound choline concentrations (mean +/- standard error of the mean) were 12.9 +/- 0.6 and 2697 +/- 57 microM or 37.3 +/- 0.9 and 2792 +/- 98 microM in controls or in ESRD patients, respectively. Free choline concentrations were correlated (r = 0.598; p < 0.001) with the time the patients were subjected to hemodialysis. Plasma free choline and phosphocholine concentrations are decreased by a total of -8.1 +/- 0.6 micromol/L and -88 +/- 8 micromol/L, respectively; phospholipid-, phosphatidylcholine- and sphingomyelin-bound choline are increased, during hemodialysis. Patients lost about 350 micromoles of choline into the dialysate during hemodialysis. CONCLUSION: Plasma free choline concentrations are elevated in ESRD, and a considerable amount of choline is lost into the hemodialysate.

Free choline and phospholipid-bound choline concentrations in serum and dialysate during peritoneal dialysis in children and adults.

OBJECTIVES: This study tested whether continuous ambulatory peritoneal dialysis (CAPD) changes free or phospholipid-bound choline concentrations in serum or peritoneal dialysis fluid of patients with end stage renal disease (ESRD). DESIGN AND METHODS: Serum and dialysate choline and phospholipid-bound choline were measured before, during and after 6 h CAPD. RESULTS: Serum choline concentrations were higher in patients with ESRD compared with age-matched controls. CAPD lowered serum choline concentrations significantly although it did not influence phospholipid-bound choline. Choline accumulated in the dialysate, reaching 28.4 +/- 2.7 microM in children and 18.2 +/- 1.4 microM in adults, during six hours CAPD; phospholipid-bound choline increased to 22.9 +/- 2.5 microM and 10.8 +/- 1.4 microM in children and adults, respectively. The total daily loss of choline into the dialysate was 181 +/- 20 micromoles in children and 260 +/- 18 micromoles in adults. CONCLUSION: CAPD causes a substantial loss of choline into peritoneal dialysates and reduces serum choline concentrations significantly.

Serum paraoxonase activity in uremic predialysis and hemodialysis patients.

BACKGROUND: Paraoxonase (PON1) is a high-density lipoprotein (HDL)-associated enzyme and has been shown to reduce the susceptibility of low-density lipoprotein (LDL) to lipid peroxidation. This study aimed to investigate the activity and phenotype distribution of serum paraoxonase in uremic patients, and to evaluate the correlations of uremia-associated substances (urea, creatinine (Cr) and uric acid) with paraoxonase activity. METHODS: Twenty-eight patients with chronic renal failure (CRF), 44 patients with CRF undergoing hemodialysis (HD) and 26 healthy controls were included in this study. Paraoxon or phenylacetate was used as a substrate for measuring paraoxonase and arylesterase activity, respectively. The double substrate method was used to assign phenotypes. Serum lipid parameters were determined by routine laboratory methods. RESULTS: Paraoxonase activity, HDL-cholesterol and apolipoprotein (apo) AI levels were found to be significantly lower in HD patients than in controls. However, HDL-standardized paraoxonase activity (PON activity/HDL) was not different in the HD patients compared to controls. Arylesterase activity was significantly lower in both CRF and HD patients than in controls. Paraoxonase phenotype distribution was not different among the groups according to the double substrate method. Serum paraoxonase and arylesterase activities correlated inversely with serum urea and Cr levels. CONCLUSION: Patients on long-term HD have reduced paraoxonase/arylesterase activities and this could be related to reduced HDL-cholesterol and apo AI levels, as well as increased urea and Cr levels in uremia.

Evaluation of sexual function in women with rheumatoid arthritis.

PURPOSE: To evaluate the link between rheumatoid arthritis (RA) and female sexual functioning. MATERIAL AND METHODS: A total of 32 women with RA and 20 healthy age matched controls were enrolled in this study. The participations are asked to complete Female Sexual Function Index (FSFI), The Short form 36 (SF-36) Health Survey and Beck Depression Inventory (BDI)questionnaires. RESULTS: The groups were comparable in terms of demographic characteristics. The women with RA represented significantly worse sexual functioning in category of desire, arousal, lubrication,orgasm, satisfaction domain and total FSFI score compared with healthy women (P = .0001, P = .0001, P = .0001, P = .0001, P = .022 and P = .0001, respectively). The mean BDI scores for the patients with RA were greater than control group (P = .036). Women with RA also had significantly lower quality of life (QoL) parameters: physical functioning, limitations due to physical health, pain, general health, vitality and limitations due to emotional problems compared with healthy women (P = .0001, P = .0001, P = .028, P = .002, P = .001 and P = .0001, respectively). CONCLUSION: The present study shows that a significant percent of patients with RA had sexual dysfunction and also deterioration in QoL.

Acute Haemodialysis-induced Changes in Tissue Doppler Echocardiography Parameters.

BACKGROUND: Tissue Doppler imaging (TDI) is a method that determines the tissue motion and velocity within the myocardium. AIMS: To characterize acute haemodialysis (HD)-induced changes in TDI-derived indices for patients that have end-stage renal disease (ESRD). STUDY DESIGN: Cross sectional study. METHODS: Conventional echocardiography and TDI methods were applied to study ESRD patients (n=58) before and after HD. Pulmonary venous flow, mitral inflow, and TDI signals of the lateral and septal mitral annulus were examined for the determination of altered left-ventricular diastolic filling parameters. Flow velocities from early- (E) and late-atrial (A) peak transmitral; peak pulmonary vein systolic (S) and diastolic (D); and myocardial peak systolic (Sm) and peak early (Em) and late (Am) diastolic mitral annular velocities were also assessed for changes. RESULTS: Transmitral E and A velocities and the E/A ratio decreased significantly after HD (p<0.001). Pulmonary vein S (p<0.001) and D (p<0.001) velocities decreased, and S/D ratios increased significantly (p=0.027). HD led to a reduction in septal Em (p<0.001), lateral Em (p=0.006), and Am (p<0.001) velocities. Contrary to the decreases in Em and Am, the Em/Am ratio remained unchanged. CONCLUSION: A single HD session was associated with an acute deterioration in the diastolic parameters. Since the Em/Am ratio remained unchanged, we conclude that this index is a relatively load-independent measure of diastolic function in HD patients.

Ki-67 proliferation index in renal biopsy samples of patients with systemic lupus erythematosus and its correlation with clinical findings.

INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease that may affect almost all organ systems. Renal involvement is the most significant prognostic factor. Renal biopsy findings play an important role in treatment decision. Ki-67 is a monoclonal antibody that is only found in proliferative cells. This study aimed to investigate the proliferative activity in renal biopsy specimens of patients with lupus nephritis using the Ki-67 monoclonal antibody, and to compare the proliferative index between different subgroups of patients. MATERIALS AND METHODS: Renal biopsy specimens of 29 patients with systemic lupus erythematosus were retrospectively evaluated. Type of lupus nephritis and activity and chronicity indexes were determined. Ki-67 immunostaining was performed. For each patient, 1000 cells were counted and the number of Ki-67 positive cells was determined. The Ki-67 activity index was compared between different subgroups of lupus nephritis and correlated with systemic lupus erythematosus disease activity index, serum creatinine, proteinuria, anticardiolipin antibodies, and complement levels. RESULTS: A positive correlation between Ki-67 proliferation index, serum creatinine levels, and systemic lupus erythematosus disease activity index were found. Although conventional activity indexes were low, in 3 of 9 patients with class II lupus nephritis, Ki-67 proliferation indexes were high, indicating proliferation. CONCLUSIONS: Ki-67 can be used as a proliferation marker in renal biopsy specimens for patients diagnosed with systemic lupus erythematosus.

Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever / Investigação de polimorfismos no gene MEFV (G138G e A165A) em pacientes adultos com febre mediterrânica familiar

Abstract Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c.495C>A) gene polymorphisms on the clinical findings of the disease. Methods: One hundred and sixteen patients diagnosed with FMF and 95 control subjects were included in this study. We used the DNA sequence analysis method to identify the most prevailing 10 mutations located in exon 2 and 10 of MEFV gene. Results: As a result of the MEFV mutation analysis, the most common mutation was the M694V mutation allele with a frequency rate of 41.8%. When the patients group and control group were compared in terms of frequency of both polymorphic alleles (G polymorphic allele, observed in G138G and the A polymorphic allele, observed in A165A), the variation was observed to be statistically significant (p < 0.001). It was found that the MEFV mutation types have no relation with clinical findings and amyloidosis (p > 0.05). Conclusions: To our knowledge, our study is the first study in the Southern Marmara region that reports the frequency of MEFV mutations. Our findings imply that the polymorphisms of G138G and A165A may have an impact on progress of the disease. We think that more studies, having higher number of cases and investigating the polymorphisms of MEFV gene, are needed.

Resumo Objetivo: Identificaram-se mutações no gene da febre mediterrânica (MEFV) relatadas como responsáveis pela febre mediterrânica familiar (FMF). Este estudo teve como objetivo determinar a frequência de mutações no MEFV na região sul do mar de Mármara e investigar o impacto dos polimorfismos genéticos G138G (rs224224, c.414A > G) e A165A (rs224223, c.495C > A) nos achados clínicos da doença. Métodos: Foram incluídos neste estudo 116 pacientes com diagnóstico de FMF e 95 indivíduos no grupo controle. Usou-se o método de análise da sequência de DNA para identificar as 10 mutações mais prevalentes localizadas nos éxons 2 e 10 do gene MEFV. Resultados: Como resultado da análise da mutação MEFV, a mutação mais comum foi a mutação alélica M694 V, com uma taxa de frequência de 41,8%. Quando os grupos de pacientes e controles foram comparados em termos de frequência de ambos os alelos polimórficos (alelo polimórfico G, observado no G138G e o alelo polimórfico A, observado no A165A), a variação observada foi estatisticamente significativa (p < 0,001). Verificou-se que os tipos de mutação no MEFV não tinham relação com os achados clínicos nem com a amiloidose (p > 0,05). Conclusões: Que se tem conhecimento, este estudo é o primeiro feito na região sul do mar de Mármara que relata a frequência de mutações no MEFV. Os achados indicam que os polimorfismos G138G e A165A podem ter um impacto sobre o progresso da doença. Acredita-se que são necessários mais estudos que abranjam um maior número de casos e investiguem os polimorfismos do gene MEFV.