643 results match your criteria Amyloidosis Familial Renal


Mean platelet volume in familial Mediterranean fever related AA amyloidosis and comparison with common primary glomerular diseases.

Turk J Med Sci 2021 May 14. Epub 2021 May 14.

Background And Aim: Compared to healthy controls, mean platelet volume (MPV) is frequently higher in patients with Familial Mediterranean fever (FMF) but lower in AA amyloidosis patients. The reason for the difference in MPV levels in FMF patients with and without AA amyloidosis is unclear. The aim of the study was to determine whether low MPV is unique to AA amyloidosis or MPV is similarly low in all glomerular diseases as a result of proteinuria and/or renal dysfunction. Read More

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Secondary Amyloidosis Presenting as Ischemic Proctitis.

Case Rep Gastrointest Med 2021 8;2021:6663391. Epub 2021 Apr 8.

Advocate Lutheran General Hospital, Department of Internal Medicine, Division of Gastroenterology, Park Ridge, IL, USA.

A 49-year-old man presented with abdominal pain and rectal bleeding for two days associated with a 50-pound unintentional weight loss. History was notable for hypertension, chronic kidney disease, obesity, gout, and acute cholecystitis status post cholecystectomy. Computed tomography (CT) of the abdomen and pelvis showed rectal wall thickening. Read More

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[Familial Mediterranean fever in 2020].

Nephrol Ther 2021 Apr;17S:S119-S125

Service de médecine interne, hôpital Tenon, AP-HP, 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (Cerémaia), 4, rue de la Chine, 75020 Paris, France; Sorbonne université, 4, rue de la Chine, 75020 Paris, France.

Familial Mediterranean fever is the most frequent autoinflammatory disease with autosomal recessive transmission. Most patients carry mutations in the MEFV gene encoding the protein marenostrin/pyrin. It is characterised by short ant recurrent attacks of fever and serositis with abdominal or thoracic pain, usually lasting less than 3 days, raised inflammatory biologic markers in an individual of Mediterranean origin. Read More

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Multi-omic analyses in Abyssinian cats with primary renal amyloid deposits.

Sci Rep 2021 Apr 16;11(1):8339. Epub 2021 Apr 16.

Department of Veterinary Medicine, University of Milan, 26900, Lodi, Italy.

The amyloidoses constitute a group of diseases occurring in humans and animals that are characterized by abnormal deposits of aggregated proteins in organs, affecting their structure and function. In the Abyssinian cat breed, a familial form of renal amyloidosis has been described. In this study, multi-omics analyses were applied and integrated to explore some aspects of the unknown pathogenetic processes in cats. Read More

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Using urinary neutrophile gelatinase-associated lipocalin for prognosticate renal dysfunction in children with familial Mediterranean fever the study design: a pilot study.

Adv Rheumatol 2021 04 1;61(1):20. Epub 2021 Apr 1.

Dr. Sadi Konuk Training and Research Hospital Department of Pediatrics, Health Science University, Istanbul, Turkey.

Background: The most important finding that affects the prognosis in Familial Mediterranean Fever is renal amyloidosis. The aim of the present study was to analyze neutrophil gelatinase-associated lipocalin levels in the urine, and to investigate whether it may be used as an early marker for renal involvement.

Methods: Forty attack-free children followed by diagnosis of Familial Mediterranean Fever with age range of 5 and 18 years, and 38 healthy children with similar ages and genders were enrolled into the study. Read More

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Baseline renal functions predict the effect of canakinumab on regression of proteinuria in patients with familial Mediterranean fever.

Nefrologia 2021 Mar 16. Epub 2021 Mar 16.

Hacettepe University, Faculty of Medicine, Department of Nephrology, Ankara, Turkey.

Introduction And Objectives: Canakinumab, an IL-1 blocking drug, decreases the frequency and severity of the attacks and decreases the proteinuria level in colchicine resistant/intolerant familial Mediterranean fever (FMF) patients. However, it is not known whether patients with impaired or preserved renal functions respond differently to IL-1 blocking therapies in terms of proteinuria reduction and progression of kidney dysfunction which was the aim of this study.

Materials And Methods: Adult FMF subjects with biopsy proven amyloidosis who had 24-h urine protein excretion>150mg/day before initiation of canakinumab were divided into two groups as patients with preserved renal function (GFR≥60mL/min) and patients with impaired renal function (GFR<60mL/min). Read More

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Tumor necrosis factor receptor-1 assciated periodic syndrome (TRAPS) related AA amyloidosis: a national case series and systematic review.

Rheumatology (Oxford) 2021 Mar 14. Epub 2021 Mar 14.

Sorbonne University, GRC GRAASU, Department of Internal Medicine, APHP, Tenon Hospital, Paris, France.

Objectives: Tumor necrosis factor (TNF) receptor-1 associated periodic syndrome (TRAPS) is a rare autosomal dominant autoinflammatory disorder associated with mutations in the TNF receptor super family 1A (TNFRSF1A) gene. AA amyloidosis (AA) is the most severe complication of TRAPS. To study the occurrence and prognosis of AA in TRAPS, we conducted a retrospective study of all French cases and a systematic literature review. Read More

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A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.

Rheumatology (Oxford) 2021 Jan 25. Epub 2021 Jan 25.

Laboratory of Molecular Medicine, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

Objective: To investigate phenotypic and molecular characteristics of a consanguineous family with autosomal-recessive, polyarticular, juvenile idiopathic arthritis (JIA) with extra-articular manifestations, including renal amyloidosis and Crohn's disease, associated with a novel homozygous truncating variant in LACC1.

Methods: Whole exome sequencing (WES) or targeted Sanger verification were performed in 15 participants. LACC1 expression and cytokine array were analyzed in patient-derived and CRISPR/Cas9-generated LACC1-knockout macrophages (Mϕ). Read More

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January 2021

Amyloid storm: acute kidney injury and massive proteinuria, rapidly progressing to end-stage kidney disease in AA amyloidosis of familial Mediterranean fever.

Rheumatology (Oxford) 2020 Dec 8. Epub 2020 Dec 8.

Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv.

Objective: Amyloid A nephropathy of FMF usually progresses over many years to end-stage renal disease (ESRD). We aim to describe an acute condition, termed here 'amyloid storm', typically manifesting with a rapid (≤2 weeks) increase in serum creatinine and urine protein, that has never been characterized in FMF amyloidosis.

Methods: This retrospective analysis features amyloid storm by comparing between FMF amyloidosis patients who have experienced an episode of amyloid storm (study group) and matched patients who have not (control group). Read More

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December 2020

Cardiovascular disease risk assessment in patients with familial Mediterranean fever related renal amyloidosis.

Sci Rep 2020 10 27;10(1):18374. Epub 2020 Oct 27.

Division of Paediatric Rheumatology, Department of Paediatrics, Schulich School of Medicine & Dentistry, University of Western Ontario, 800 Commissioners Rd E. B1-146, London, ON, N6A 5W9, Canada.

Chronic inflammation and proteinuria is a risk factor for cardiovascular disease (CVD) in patients with chronic kidney diseases and rheumatologic disorders. Our aim was to investigate the CVD events (CVDEs) and survival between the patients with FMF-related AA amyloidosis and glomerulonephropathies (GN) to define possible predictors for CVDEs. A prospective follow-up study with FMF-amyloidosis and glomerulonephropathy (GN) was performed and patients were followed for CVDEs. Read More

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October 2020

The role of azurocidin in patients with familial Mediterranean fever and AA amyloidosis and its association with cardiovascular risk factors.

Int Urol Nephrol 2021 Mar 15;53(3):531-538. Epub 2020 Oct 15.

Department of Nephrology, University of Health Sciences Bozyaka Training and Research Hospital, Saim Cikrikci Street, No: 59, Karabaglar, 35360, Izmir, Turkey.

Background: Familial Mediterranean fever (FMF) is characterized by sporadic, recurrent attacks of fever and serosal inflammation. AA amyloidosis (AAA) is a disorder characterized by the extracellular tissue deposition of serum amyloid A protein (SAA). Azurocidin is a neutrophil-derived granule protein. Read More

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Menorrhagia due to uterine amyloidosis in familial Mediterranean fever: case-based review.

Rheumatol Int 2021 Jan 14;41(1):205-211. Epub 2020 Oct 14.

Division of Rheumatology, Department of Internal Medicine, School of Medicine, Eskişehir Osmangazi University, 26480, Eskişehir, Turkey.

Amyloidosis is described by the deposition of misfolded proteins in the tissues. Amyloidoses are classified into two as systemic and localized. Out of the systemic forms, AL (light chain) amyloidosis is the most prevalent type; however, amyloid A (AA) amyloidosis is more frequently encountered in the rheumatology practice. Read More

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January 2021

Differential mutational profiles of familial Mediterranean fever in North Africa.

Ann Hum Genet 2020 11 20;84(6):423-430. Epub 2020 Aug 20.

Laboratory of Cellular and Molecular Biology, Faculty of Biological Sciences, University of Sciences and Technology Houari Boumediene, Algiers, Algeria.

Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease, mainly occurring in the eastern Mediterranean. In these populations, the five FMF founder mutations are differently distributed. In Algeria, the FMF-causing variants remain poorly explored. Read More

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November 2020

Predictors of persistent inflammation in familial Mediterranean fever and association with damage.

Rheumatology (Oxford) 2021 01;60(1):333-339

Department of Internal Medicine, Division of Rheumatology, Faculty of Medicine, Gazi University, Ankara.

Objective: Persistent inflammation is an insidious and less studied feature of FMF. We investigated clinical determinants of persistent inflammation and its associations with individual damage items.

Methods: This is a cross-sectional analysis of 917 FMF patients, who fulfilled the Tel Hashomer criteria and had at least 6 months' follow-up. Read More

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January 2021

Amyloid A Amyloidosis After Renal Transplantation: An Important Cause of Mortality.

Transplantation 2020 08;104(8):1703-1711

Division of Nephrology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Background: There are limited data on the outcome of transplant recipients with familial Mediterranean fever (FMF)-associated AA amyloidosis. The aim of the present study is to evaluate demographic, clinical, laboratory, and prognostic characteristics and outcome measures of these patients.

Methods: Eighty-one renal transplant recipients with FMF-associated AA amyloidosis (group 1) and propensity score-matched transplant recipients (group 2, n = 81) with nonamyloidosis etiologies were evaluated in this retrospective, multicenter study. Read More

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Transthyretin amyloidosis with cardiomyopathy after domino liver transplantation: Results of a cross-sectional study.

Am J Transplant 2021 01 26;21(1):372-381. Epub 2020 Aug 26.

Multidisciplinary Familial Amyloidosis Unit, Bellvitge University Hospital, Bellvitge Biomedical Research Institute, Barcelona, Spain.

Domino liver transplantation (DLT) has been used widely in patients with hereditary amyloid transthyretin (ATTR) amyloidosis. New-onset polyneuropathy in recipients of DLT has been reported, but there are few cases of cardiac involvement reported. We aimed to perform a cross-sectional study for ATTR amyloidosis with cardiomyopathy (ATTR-CM) in DLT recipients. Read More

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January 2021

Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients.

Am J Kidney Dis 2020 09 10;76(3):384-391. Epub 2020 Jul 10.

Department of Nephrology and Transplantation, Hôpital Tenon, Sorbonne Université, Paris, France. Electronic address:

Rationale & Objective: Fibrinogen A α-chain amyloidosis (AFib amyloidosis) is a form of amyloidosis resulting from mutations in the fibrinogen A α-chain gene (FGA), causing progressive kidney disease leading to kidney failure. Treatment may include kidney transplantation (KT) or liver-kidney transplantation (LKT), but it is not clear what factors should guide this decision. The aim of this study was to characterize the natural history and long-term outcomes of this disease, with and without organ transplantation, among patients with AFib amyloidosis and various FGA variants. Read More

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September 2020

Kidney transplantation as a treatment of choice for AA amyloidosis due to periodic fever syndrome.

Clin Rheumatol 2021 Feb 11;40(2):763-768. Epub 2020 Jul 11.

Department of Surgery and Transplantation Center, University Hospital Martin and Jessenius Medical Faculty of Comenius University, Kollárova 2, 03601, Martin, Slovak Republic.

Renal AA amyloidosis is the most serious complication of periodic fever syndrome, which, inadequate suppression, due to persistent inflammation, leads to nephrotic syndrome and renal failure over several years. In most cases, periodic fever syndromes begin to manifest clinically in early childhood. Occurrence in adulthood is considered rare and is associated with a poorer clinical course. Read More

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February 2021

Safety and efficacy of anti-interleukin-1 treatment in 40 patients, followed in a single centre, with AA amyloidosis secondary to familial Mediterranean fever.

Rheumatology (Oxford) 2020 Dec;59(12):3892-3899

Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul-Cerrahpasa, Istanbul, Turkey.

Objective: The main devastating complication of FMF is AA amyloidosis. Approximately 10-15% of the patients are either intolerant or have an insufficient response to colchicine treatment. The most promising alternative treatment approach is anti-IL-1 agents. Read More

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December 2020

A histopathological scoring and grading system to predict outcome for patients with AA amyloidosis.

Int Urol Nephrol 2020 Jul 11;52(7):1297-1304. Epub 2020 Jun 11.

Division of Nephrology, Department of Internal Medicine, School of Medicine, Ege University, Bornova, 35100, Izmir, Turkey.

Purpose: Renal involvement is associated with significant morbidity and mortality in AA amyloidosis. Extend of amyloid deposition in kidney biopsies may be predictive for clinical manifestations and outcomes. The aim of our study is to assess clinical features of patients with biopsy-proven renal AA amyloidosis and to evaluate the relationship between histopathological scoring and grading of renal amyloid deposition with clinical findings and outcomes. Read More

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Familial mediterranean fever and immunoglobulin A nephropathy: A case report and review of the literature.

Saudi J Kidney Dis Transpl 2020 Mar-Apr;31(2):537-541

Department of Nephrology, Ankara Numune Education and Research Hospital, Ankara, Turkey.

Familial Mediterranean fever (FMF) is an autosomal recessive disease charac-terized by recurrent fever episodes and polyserositis. The most important complication is amyloidosis. Nonamyloidotic nephropathy in FMF is poorly documented. Read More

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A case of renal and splenic LECT 2 amyloidosis: A recently recognized cause of renal and systemic amyloidosis.

Saudi J Kidney Dis Transpl 2020 Mar-Apr;31(2):508-514

Department of Medicine, Division of Nephrology, UCLA David Geffen School of Medicine, Los Angeles; Department of Medicine, Division of Nephrology, University of California, Irvine School of Medicine, Irvine, CA, USA.

Amyloidosis has traditionally been of a few defined varieties, most commonly including light-chain amyloidosis (AL amyloidosis) and secondary amyloidosis due to chronic inflammation (AA amyloidosis). Apolipoprotein A-I/A-II cystatin C, gelsolin, lysozyme, fibrinogen alpha chain, beta 2 microglobulin, and transthyretin familial amyloidosis represent rarer but reported varieties. Ten years ago, the first reports linked leukocyte chemotactic factor 2 (LECT2) amyloidosis as a pathological agent identified as a novel class of amyloid-generating protein. Read More

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Soluble TREM-1 Levels in Familial Mediterranean Fever Related AA-Amyloidosis.

Immunol Invest 2021 Feb 22;50(2-3):273-281. Epub 2020 Apr 22.

Division of Rheumatology, Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul-Cerrahpasa , Istanbul, Turkey.

: Triggering Receptor Expressed on Myeloid cells-1 (TREM-1) is a monocyte and neutrophil receptor functioning in innate immunity. TREM-1 activity has been studied in various autoimmune diseases such as RA and SLE but there is no data in autoinflammatory pathologies. We studied soluble TREM-1 (sTREM-1) activity in Familial Mediterranean Fever (FMF) cases to evaluate the clinical role of TREM-1 in amyloidosis. Read More

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February 2021

Association between basal proteinuria levels and pregnancy outcomes in familial Mediterranean fever.

J Obstet Gynaecol 2020 Nov 9;40(8):1102-1105. Epub 2020 Apr 9.

Department of Maternal-Fetal Medicine Unit, University of Health Sciences, Zekai Tahir Burak Women's Health Education and Research Hospital, Ankara, Turkey.

We aimed to investigate whether proteinuria in the first trimester of pregnancy in Familial Mediterranean fever (FMF) patients has an impact on pregnancy outcome and perinatal and neonatal outcome of pregnancies. A total of 66 pregnant with FMF were compared with healthy controls at the same gestational weeks. Patients with FMF had a higher antenatal hospitalisation rate (34. Read More

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November 2020

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.

J Hum Genet 2020 Aug 9;65(8):711-713. Epub 2020 Apr 9.

Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil.

Amyloidosis, caused by a mutation in the transthyretin (TTR) gene, is the most common hereditary type disease. More than 120 mutations have been described, with extensive phenotypic heterogeneity. Val30Met (p. Read More

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[Autoinflammatory syndromes and AA amyloidosis].

Z Rheumatol 2020 Sep;79(7):649-659

Amyloidose-Zentrum, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Deutschland.

Autoinflammatory syndromes (AIS) are characterized by uniform attacks often with febrile episodes, exanthema, abdominal pain, muscle and joint pain. Patients show markedly elevated levels of the inflammatory serum parameters C‑reactive protein (CRP) and systemic amyloid A (SAA) during an attack. The origin of the family of the patient and the duration of the attacks are helpful to find the appropriate diagnosis. Read More

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September 2020

AMYLOIDOSIS IN CARACALS ().

J Zoo Wildl Med 2020 Mar;51(1):202-209

Center for Zoo and Wild Animal Health, Copenhagen Zoo, Roskildevej 38, 2000 Frederiksberg, Denmark.

Nine cases of amyloidosis in caracals () from three different institutions in Europe were reviewed and evaluated histopathologically. The six males and three females died between 2008 and 2018 at an age of 6 yr ± 2.5 mo (median ± interquartile range). Read More

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Diagnosis and Treatment of Hereditary Transthyretin Amyloidosis (hATTR) Polyneuropathy: Current Perspectives on Improving Patient Care.

Ther Clin Risk Manag 2020 21;16:109-123. Epub 2020 Feb 21.

Università Cattolica del Sacro Cuore, Rome, Italy.

Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin () and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues. hATTR amyloidosis represents a diagnostic challenge for neurologists considering the great variability in clinical presentation and multiorgan involvement. Generally, patients present with polyneuropathy, but clinicians should consider the frequent cardiac, ocular and renal impairment. Read More

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February 2020

[Amyloid from insulin treatment: a pitfall for the pathologist and the diabetologist].

Lakartidningen 2020 02 13;117. Epub 2020 Feb 13.

Uppsala Universitet - Insitutionen for immunologi, genetik och patologi Uppsala, Sweden Uppsala Universitet - Insitutionen for immunologi, genetik och patologi Uppsala, Sweden.

Biopsies from six diabetic patients with subcutaneous amyloid deposits formed by injected insulin have been sent to our laboratory during the last year. In all but one of the six patients a subcutaneous adipose tissue biopsy was taken due to suspicion of systemic amyloidosis. Four of these patients had renal insufficiency, with monoclonal gammopathy of undetermined significance (MGUS) in three while the fifth had heredity for transthyretin amyloidosis. Read More

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February 2020