678 results match your criteria Amyloidosis Familial Renal


Treatment With Diflunisal in Domino Liver Transplant Recipients With Acquired Amyloid Neuropathy.

Transpl Int 2022 13;35:10454. Epub 2022 Apr 13.

Neuromuscular Unit, Neurology Department, Bellvitge University Hospital-IDIBELL, Barcelona, Spain.

To analyze the efficacy and tolerability of diflunisal for the treatment of acquired amyloid neuropathy in domino liver transplant recipients. We performed a retrospective longitudinal study of prospectively collected data for all domino liver transplant recipients with acquired amyloid neuropathy who received diflunisal at our hospital. Neurological deterioration was defined as an score increase of ≥2 points from baseline on the Neurological Impairment Scale/Neurological Impairment Scale-Lower Limbs. Read More

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The Preferential Use of Anakinra in Various Settings of FMF: A Review Applied to an Updated Treatment-Related Perspective of the Disease.

Int J Mol Sci 2022 Apr 2;23(7). Epub 2022 Apr 2.

FMF Clinic, The Chaim Sheba Medical Center, Tel-Hashomer, Ramat-Gan 5265601, Israel.

Familial Mediterranean fever (FMF), the most frequent monogenic autoinflammatory disease, is manifested with recurrent and chronic inflammation and amyloid A (AA) amyloidosis, driven by overproduction of interleukin 1 (IL-1) through an activated pyrin inflammasome. Consequently, non-responsiveness to colchicine, the cornerstone of FMF treatment, is nowadays addressed by IL-1- blockers. Each of the two IL-1 blockers currently used in FMF, anakinra and canakinumab, has its own merits for FMF care. Read More

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Renal Involvement in Transthyretin Amyloidosis: The Double Presentation of Transthyretin Amyloidosis Deposition Disease.

Nephron 2022 Mar 18:1-8. Epub 2022 Mar 18.

Nephrology and Dialysis Unit, S. Giovanni Bosco Hospital and University of Turin, Turin, Italy.

Transthyretin (TTR) amyloidosis (ATTR) is either an inherited condition or a non hereditary disease due to misfolding of wild-type (WT) TTR. Amyloid deposits can be mainly detected in nerves in the inherited form and in myocardium in the acquired variant. Renal involvement has been described only in the Val30Met mutation of the familial form and is thought to be extremely rare in the WT TTR. Read More

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Real-life experience with inotersen in hereditary transthyretin amyloidosis with late-onset phenotype: Data from an early-access program in Italy.

Eur J Neurol 2022 Mar 15. Epub 2022 Mar 15.

Department of Neuroscience, Reproductive and Odontostomatological Science, University of Naples "Federico II", Naples, Italy.

Background And Purpose: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a dominantly inherited, adult-onset, progressive, and fatal disease caused by mutations in the transthyretin gene. Therapeutic agents approved for this disease include the TTR stabilizer tafamidis and the gene-silencing drugs patisiran and inotersen. Inotersen is an antisense oligonucleotide that suppresses the hepatic production of transthyretin. Read More

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Evaluation of the controlling nutritional status score and prognostic nutritional index in patients with familial Mediterranean fever.

Eur J Rheumatol 2022 01;9(1):14-19

Division of Rheumatology, Department of Internal Medicine, Pamukkale University School of Medicine, Denizli, Turkey.

Objective: Familial Mediterranean fever (FMF) is the most common disease that leads to secondary amyloidosis in Turkish population. The prognostic nutritional index (PNI) and the controlling nutritional status (CONUT) score were recently investigated in many clinical conditions as predictors of disease activity and prognosis of underlying disease. We aimed to evaluate these indexes in FMF patients. Read More

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January 2022

Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers.

Int Heart J 2022 ;63(1):168-175

Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine.

Diagnostic strategies for symptomatic transthyretin (ATTR) cardiac amyloidosis showing typical morphological features such as increased ventricular wall thickness and myocardial injury such as an elevation in serum troponin T level have been established, but those for subclinical cardiac amyloidosis are limited. In the era when effective therapies to suppress/delay progression of ATTR cardiac amyloidosis are available, early detection of cardiac involvement plays a crucial role in appropriate decision-making for treatment in TTR mutation carriers who have a family history of heart failure and death due to ATTR amyloidosis. Findings of three cases with known pathogenic transthyretin (TTR) mutations (p. Read More

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February 2022

A multicenter study of the clinical, laboratory characteristics, and potential prognostic factors in patients with amyloid A amyloidosis on hemodialysis.

Hemodial Int 2022 Apr 30;26(2):207-215. Epub 2021 Dec 30.

Department of Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Introduction: While light chain (AL) amyloidosis is more common in western countries, the most common type of amyloidosis is amyloid A (AA) amyloidosis in Eastern Mediterranean Region, including Turkey. Although worse prognosis has been attributed to the AL amyloidosis, AA amyloidosis can be related to higher mortality under renal replacement therapies. However, there are no sufficient data regarding etiology, clinical presentation, and prognostic factors of AA amyloidosis. Read More

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AA renal amyloidosis: Clinical observations over 20 years.

Clin Nephrol 2022 Mar;97(3):167-172

Objective: AA renal amyloidosis is present in Algeria, often secondary to chronic infections, the most frequent being tuberculosis. We studied the evolution of the epidemiology of AA amyloidosis over a period of 20 years.

Materials And Methods: We conducted a retrospective study of all adult and pediatric patients diagnosed with renal symptomatology of AA amyloidosis from 1994 to 2014 inclusive. Read More

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The use of anti-interleukin-1 agents and tumor necrosis factor-alpha inhibitors in renal transplant recipients.

Arch Rheumatol 2021 Sep 14;36(3):366-374. Epub 2021 Jan 14.

Department of Internal Medicine, Division of Rheumatology, Akdeniz University School of Medicine, Antalya, Turkey.

Objectives: The aim of this study was to investigate the efficacy and safety of anti-interleukin-1 (anti-IL-1) agents and tumor necrosis factor-alpha (TNF-α) inhibitors in renal transplant patients.

Patients And Methods: Between February 2014 and February 2020, data of 12 renal transplant recipients (9 males, 3 females; median age: 51 years; range, 19 to 70 years) who received anti-IL-1 agents or TNF-α inhibitors for inflammatory diseases in the post-transplant time period and were followed in a single transplant center (n=12) were retrospectively analyzed. A total of 46 cases were reported in the literature, before the data were collected. Read More

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September 2021

Nutcracker syndrome: a potentially underdiagnosed cause of proteinuria in children with familial Mediterranean fever.

Pediatr Nephrol 2021 Nov 18. Epub 2021 Nov 18.

Department of Pediatric Rheumatology, Faculty of Medicine, Ankara University, Ankara, Turkey.

Introduction: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory disease with an increased risk for secondary amyloidosis. Since lifelong colchicine has been the treatment of choice that prevents renal amyloidosis, non-amyloid kidney diseases are more frequently considered in the differential diagnosis of proteinuria. Nutcracker syndrome (NCS) can be one of the confounding causes. Read More

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November 2021

Familial nephropathy in Bracchi Italiani: 8 cases (2012-2019).

J Am Vet Med Assoc 2021 11 10;259(12):1422-1427. Epub 2021 Nov 10.

From the Department of Small Animal Clinical Sciences, College of Veterinary Medicine, University of Florida, Gainesville, FL 32610.

Objective: To characterize the signalment, clinical signs, clinical pathological and histologic findings, and outcome in 8 related Bracchi Italiani with proteinuric kidney disease.

Animals: 8 client-owned Bracchi Italiani.

Procedures: Health records submitted to the Bracco Italiano Health Foundation and the Bracco Italiano Club of America between 2012 and 2019 were reviewed for dogs with evidence of nephropathy for which histologic diagnoses were obtained. Read More

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November 2021

Amyloidosis and Glomerular Diseases in Familial Mediterranean Fever.

Medicina (Kaunas) 2021 Oct 1;57(10). Epub 2021 Oct 1.

Unit of Nephrology and Dialysis, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease with autosomal recessive transmission, characterized by periodic fever attacks with self-limited serositis. Secondary amyloidosis due to amyloid A renal deposition represents the most fearsome complication in up to 8.6% of patients. Read More

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October 2021

Impact of tricuspid regurgitation on survival in patients with cardiac amyloidosis.

ESC Heart Fail 2021 02 2;8(1):438-446. Epub 2020 Dec 2.

Department of Cardiology, Rangueil University Hospital, 1, avenue Jean Poulhès, TSA 50032, Toulouse Cedex 9, 31059, France.

Aims: Tricuspid regurgitation (TR) is a common finding and has been associated with poorer outcome in patients with heart failure. This study sought to investigate the prognostic value of TR in patients with cardiac amyloidosis (CA).

Methods And Results: Two-hundred and eighty-three patients with CA-172 (61%) wild-type transthyretin amyloidosis (ATTRwt) and 111 (39%) light-chain amyloidosis (AL)-were consecutively enrolled between December 2010 and September 2019. Read More

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February 2021

Global Proteotoxicity Caused by Human β Microglobulin Variants Impairs the Unfolded Protein Response in .

Int J Mol Sci 2021 Oct 4;22(19). Epub 2021 Oct 4.

Faculty of Biological Sciences, School of Molecular and Cell Biology & Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds LS2 9JT, UK.

Aggregation of β microglobulin (βm) into amyloid fibrils is associated with systemic amyloidosis, caused by the deposition of amyloid fibrils containing the wild-type protein and its truncated variant, ΔN6 βm, in haemo-dialysed patients. A second form of familial systemic amyloidosis caused by the βm variant, D76N, results in amyloid deposits in the viscera, without renal dysfunction. Although the folding and misfolding mechanisms of β microglobulin have been widely studied in vitro and in vivo, we lack a comparable understanding of the molecular mechanisms underlying toxicity in a cellular and organismal environment. Read More

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October 2021

Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases.

Front Pediatr 2021 10;9:710501. Epub 2021 Sep 10.

Department of Pediatric Genetics, Ondokuz Mayis University Faculty of Medicine, Samsun, Turkey.

Anti-interleukin 1 agents are used successfully in colchicine-resistant or intolerant Familial Mediterranean Fever (FMF) patients. Sixty-five patients with FMF who received canakinumab treatment for at least 6 months due to colchicine resistance or intolerance between 2016 and 2020 in our department were retrospectively analyzed. Canakinumab treatment was given subcutaneously every 4 weeks. Read More

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September 2021

Evaluation of E148Q and Concomitant AA Amyloidosis in Patients with Familial Mediterranean Fever.

J Clin Med 2021 Aug 10;10(16). Epub 2021 Aug 10.

Schulich School of Medicine & Dentistry, Department of Paediatrics, Division of Paediatric Rheumatology, University of Western Ontario, London, ON N6A 5W9, Canada.

The aim of the study was to compare the clinical phenotype of patients with familial Mediterranean fever (FMF)-related AA amyloidosis, according to the age of FMF diagnosis and E148Q genotype. Patients with biopsy-confirmed FMF-related AA amyloidosis were included in the study. Tel-Hashomer criteria were applied in the diagnosis of FMF. Read More

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Metabolomics analysis for diagnosis and biomarker discovery of transthyretin amyloidosis.

Amyloid 2021 Dec 28;28(4):234-242. Epub 2021 Jul 28.

Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden.

Untargeted metabolomics is a well-established technique and a powerful tool to find potential plasma biomarkers for early diagnosing hereditary transthyretin amyloidosis. Hereditary transthyretin amyloidosis (ATTRv) is a disabling and fatal disease with different clinical features such as polyneuropathy, cardiomyopathy, different gastrointestinal symptoms and renal failure. Plasma specimens collected from 27 patients with ATTRv (ATTRV30M), 26 asymptomatic V30M carriers and 26 control individuals were subjected to gas chromatography (GC)- and liquid chromatography (LC)-mass spectrometry (MS)-based metabolomics analysis. Read More

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December 2021

The use of diflunisal for transthyretin cardiac amyloidosis: a review.

Heart Fail Rev 2022 03 16;27(2):517-524. Epub 2021 Jul 16.

Division of Cardiology At Mount Sinai Medical Center, Columbia University, 4300 Alton Rd, Miami Beach, FL, 33140, USA.

Transthyretin cardiac amyloidosis (ATTR-CM) is caused by the accumulation of misfolded transthyretin (TTR) protein in the myocardium. Diflunisal, an agent that stabilizes TTR, has been used as an off-label therapeutic for ATTR-CM. Given limited data surrounding the use of diflunisal, a systematic review of the literature is warranted. Read More

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Advances in Diagnosis and Treatment of Cardiac and Renal Amyloidosis.

Cardiol Clin 2021 Aug;39(3):389-402

Division of Medicine (Royal Free Campus), National Amyloidosis Centre, Centre for Amyloidosis and Acute Phase Proteins, University College London, Rowland Hill Street, London NW3 2PF, UK. Electronic address:

Diagnoses of amyloidosis are increasing annually, and advances in bone scintigraphy and cardiac MRI accompanied by development of nonbiopsy diagnostic criteria have specifically led to a huge increase in transthyretin amyloidosis cardiomyopathy (ATTR-CM) diagnoses worldwide. Tafamidis use is increasing, and there are several ongoing phase III clinical trials of novel agents that promise to transform the treatment landscape for patients with ATTR-CM. In systemic light chain (AL) amyloidosis, more effective chemotherapeutic agents continue to improve patient outcomes. Read More

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Diagnostic delay and characterization of the clinical prodrome in AL amyloidosis among 1523 US adults diagnosed between 2001 and 2019.

Eur J Haematol 2021 Oct 23;107(4):428-435. Epub 2021 Jul 23.

Janssen Research & Development, LLC, Spring House, PA, USA.

Light-chain (AL) amyloidosis is a multisystem disorder with a high early mortality and diagnostic delays of >1 year from symptom onset. This retrospective observational study sought to characterize the clinical prodrome and diagnostic delay to inform early detection. We identified 1523 adults with newly diagnosed AL amyloidosis in the Optum de-identified Clinformatics Datamart US healthcare claims database as those with ≥2 new diagnosis codes for AL or other amyloidosis in 90 days with ≥1 multiple myeloma treatment within 730 days, excluding patients with prior hereditary or secondary amyloidosis and Familial Mediterranean Fever. Read More

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October 2021

Amyloid Goiter in Familial Mediterranean Fever: Description of 42 Cases from a French Cohort and from Literature Review.

J Clin Med 2021 May 5;10(9). Epub 2021 May 5.

Internal Medicine Department and National Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA), APHP, Tenon Hospital, Sorbonne University, 4 rue de la Chine, 75020 Paris, France.

Our aim was to describe the main features of amyloid goiter in adults with amyloidosis secondary to familial Mediterranean fever. Therefore, we analyzed cases from a French cohort of familial Mediterranean fever patients with amyloidosis and from literature review. Forty-two cases were identified: 9 from the French cohort and 33 from literature review. Read More

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Combined Heart-Liver and Domino Liver Transplantation in Familial Amyloidosis.

Am Surg 2021 Jun 1:31348211023427. Epub 2021 Jun 1.

Department of Surgery, Hume-Lee Transplant Center, 6887Virginia Commonwealth University, Richmond, VA, USA.

Background: Combined heart-liver transplantation (CHLT) is the only curative option for patients with concomitant pathology affecting the heart and liver. In some cases, the native livers of familial amyloidosis (FA) patients may be suitable for domino transplantation into other recipients.

Methods: Retrospective analysis (2013 to 2019) of all CHLT at our center was performed. Read More

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

Turk J Med Sci 2021 10 21;51(5):2364-2368. Epub 2021 Oct 21.

Division of Nephrology, Department of InternFaculty of Medicine, Hacettepe University, Ankara, Turkey

Background/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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October 2021

ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable.

Orphanet J Rare Dis 2021 05 6;16(1):204. Epub 2021 May 6.

Section of Cardiovascular Medicine, Department of Medicine and Amyloidosis Center, Boston University School of Medicine, Boston Medical Center, Boston, MA, USA.

Background: The global spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causing the ongoing coronavirus disease 2019 (COVID-19) pandemic has raised serious concern for patients with chronic disease. A correlation has been identified between the severity of COVID-19 and a patient's preexisting comorbidities. Although COVID-19 primarily involves the respiratory system, dysfunction in multiple organ systems is common, particularly in the cardiovascular, gastrointestinal, immune, renal, and nervous systems. 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 04 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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Carpal Tunnel Syndrome Due to Iatrogenic Amyloidosis After Domino Liver Transplantation From Hereditary Transthyretin Amyloidosis: A Case Report.

Transplant Proc 2021 May 6;53(4):1313-1316. Epub 2021 Apr 6.

Department of Surgery, Kumamoto Rosai Hospital, Kumamoto, Japan.

Background: Carpal tunnel syndrome is the most common compression syndrome of the peripheral nerve. Transthyretin amyloidosis and dialysis-related β2-microglobulin amyloidosis are known causes of carpal tunnel syndrome.

Case Report: A Japanese woman showed carpal tunnel syndrome 16 years after a domino liver transplantation (DLT) from the donor with hereditary transthyretin amyloidosis. 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 (Engl Ed) 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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