The evaluation of renal hemodynamics changes in Familial Mediterranean fever with color Doppler sonography

Sezer, Ferhat; Uslu, Ali Uğur; Eğilmez, Hulusi; Balta, Şevket; Varol, Kenan; Arik, Bilal; Şeker, Emrah; Güneş, Hakan; Yönem, Özlem

doi:10.1080/0886022x.2016.1208465

Cited by 3 publications

(6 citation statements)

References 25 publications

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“…Furthermore, renal artery RI values also in the microalbuminuric patient group were found higher than the normoalbuminuric patients. 11 Both renal parenchymal stiffness and both renal artery RI values in the microalbuminuric group were found higher than the normoalbuminuric group in FMF patients in our study. Right renal parenchymal stiffness was found higher in the group with homozygote M694V mutation than other mutation groups, and it was found higher in compound heterozygote mutation than the group with heterozygote and homozygote V726A mutation.…”

Section: Discussioncontrasting

confidence: 46%

“…In the study conducted by Sezer et al renal artery RI values were found higher in FMF patients than in the control group. Furthermore, renal artery RI values also in the microalbuminuric patient group were found higher than the normoalbuminuric patients 11 . Both renal parenchymal stiffness and both renal artery RI values in the microalbuminuric group were found higher than the normoalbuminuric group in FMF patients in our study.…”

Section: Discussioncontrasting

confidence: 42%

“…Renal or submucosal rectal biopsies are used for showing amyloidosis deposition in tissues. Recently, there have been studies in the literature reporting that secondary findings of amyloidosis deposition can be shown in a non‐invasive manner by ultrasonography and Doppler, and amyloid‐dependent organ failure can be determined 11,12 . However, there are not any sufficient studies evaluating amyloidosis deposition by shear wave elastography (SWE) in the literature, and the studies are limited to the thyroid and salivary glands.…”

Section: Introductionmentioning

confidence: 99%

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Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients

Urfali¹,

Yilmaz

Özkul

et al. 2022

J of Clinical Ultrasound

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Objective The most significant complication in familial mediterranean fever (FMF) patients is dysfunction and organ failure developing depending on amyloid deposition in organs. The golden standard for showing amyloid deposition is the biopsy; however, tissue stiffness was examined by shear wave elastography as a non‐invasive method in a restricted number of studies conducted, and it is considered that amyloid deposition can be shown indirectly. In our study, we aimed to indirectly evaluate amyloid deposition in organs with Shear wave and Doppler ultrasonography and to reveal its relationship with MEFV gene mutation analysis. Method 42 FMF patients with normal thyroid and renal function tests and 35 participants with no FMF symptoms were included in our study. FMF patients were grouped depending on their MEFV mutation analyses. Thyroid, salivary glands, and renal parenchymal tissue stiffness were evaluated by shear wave elastography. Thyroidal artery and both renal artery resistances were evaluated by Doppler ultrasonography. Results Both parotis gland, thyroid and renal parenchymal stiffness and arterial vascular resistances in the patient group were found higher than the control group. A significant difference was not found in any parameters in classification based on gender. Tissue stiffness and vascular resistance values in the patient group with M694V homozygote mutation were found statistically significantly higher than the other mutation groups (p < 0.001). Conclusion Our study shows that identifying genetic mutation type in FMF patients will help determine possibly amyloidosis risk. Imaging of tissue stiffness by shear wave elastography and evaluation of vascular resistance by Doppler can be useful for routine screening of those patients.

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Section: Discussioncontrasting

confidence: 46%

Section: Discussioncontrasting

confidence: 42%

Section: Introductionmentioning

confidence: 99%

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Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients

Urfali¹,

Yilmaz

Özkul

et al. 2022

J of Clinical Ultrasound

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“…They found no significant difference in ADC values in other organs. A Doppler US study conducted by Sezer et al 27 on 79 FMF patients and 51 healthy individuals showed that renal artery resistive index values were significantly higher in FMF patients compared with healthy controls, and the renal artery resistive index values of the patients in the microalbuminuric subgroup were significantly higher in the patient group than in the nonalbuminuric subgroup. In addition, our study contributes to the literature by including the mean values of LSV and SSV in the healthy group and the relationship of these values with age and sex, as well as patients with FMF.…”

Section: Discussionmentioning

confidence: 97%

Evaluation of Liver and Spleen With Shear Wave Elastography in Adult Patients With Familial Mediterranean Fever

Akti

Albayrak

2022

Ultrasound Quarterly

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Familial Mediterranean fever (FMF) is an autoinflammatory disease and an important health problem in countries bordering the eastern Mediterranean, including Turkey. In this study, we aimed to evaluate possible tissue stiffness changes that may develop in the liver and spleen in adult FMF patients with shear wave elastography (SWE), and its usability as an auxiliary imaging method that will be able to provide additional advantage in clinical follow-up. Seventy-five adult FMF patients and 73 adult volunteer were included in the study. Examination was performed through an intercostal space where the liver and spleen were clearly visible. The parenchymal stiffness degrees of the liver and spleen were quantified by shear modulus values in kilopascals. Differences in stiffness values of the liver and spleen between the 2 groups were examined. Liver stiffness value (LSV) was found to be statistically significantly higher in the FMF group. Although the spleen stiffness value (SSV) was found higher in the FMF group, the difference between the groups was not statistically significant. Increased LSVs in patients with FMF can be quantitatively demonstrated by the 2-dimensional SWE method, and SWE may be useful as an auxiliary imaging method in the follow-up of patients with FMF for this purpose. The LSV and SSV obtained in this study may be useful as reference stiffness values for both healthy individuals and those with FMF.

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“…Clinical findings vary according to the organ where amyloidosis accumulates. If amyloid accumulates in the kidney, protein loss in the urine and renal failure usually develops (Scarpioni, 2016; Sezer et al., 2016). Pyrin protein also functions as the main regulatory component of the inflammasome complex and has been shown to play a role in many inflammasome‐induced autoinflammatory diseases (Kanneganti et al., 2018; Migita et al., 2018).…”

Section: Introductionmentioning

confidence: 99%

NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity

Caldiran

Deveci

Çaçan

2022

Annals of Human Genetics

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Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by variations in the MEFV gene, which encodes the pyrin protein, a member of the inflammasomes. Despite the complex pathogenesis of FMF, epigenetic changes also play roles in the disease progression. In our previous study, we observed a relationship between NLRP13, which is one of the members of the inflammasome complex and has a pyrin domain in its structure, and the MEFV gene using the STRING database. In this study, we examined NLRP13 expression and methylation status in 40 patients with FMF attack and 20 healthy individuals. We then investigated the global DNA methylation status of patients with FMF in the attack period and control groups. We further examined the relationship between the clinical manifestation and global methylation as well as NLRP13 gene expression of patients with FMF and healthy individuals. As a result, we showed that hypomethylation in patients with FMF leads to different clinical outcomes in terms of disease severity. In addition, the data indicated that NLRP13 inflammasome is epigenetically controlled in patients with FMF and the presence of amyloidosis may affect the hypermethylation of this gene. Moreover, NLRP13 was silenced because of the hypermethylation of the promoter. The increase of methylation level at the promoter region participated in the inactivation of NLRP13. In the current study, we not only found a new gene that plays a role in the pathogenesis of FMF disease, but also new evidence for the epigenetic regulation of the disease.

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The evaluation of renal hemodynamics changes in Familial Mediterranean fever with color Doppler sonography

Abstract: RRI may be a marker that may be used in assessing resistance to renal blood flow, early renal damage, and progression of renal damage in FMF patients.

Cited by 3 publications

References 25 publications

Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients

Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients

Evaluation of Liver and Spleen With Shear Wave Elastography in Adult Patients With Familial Mediterranean Fever

NLRP13 inflammasome complex is hypermethylated in familial Mediterranean fever and global methylation correlates with the disease severity

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