612 results match your criteria Amyloidosis Familial Renal


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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http://dx.doi.org/10.4103/1319-2442.284033DOI Listing

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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http://dx.doi.org/10.4103/1319-2442.284027DOI Listing

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

Immunol Invest 2020 Apr 22:1-9. 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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http://dx.doi.org/10.1080/08820139.2020.1751195DOI Listing

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

J Obstet Gynaecol 2020 Apr 9:1-4. 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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http://dx.doi.org/10.1080/01443615.2019.1700944DOI Listing

[Autoinflammatory syndromes and AA amyloidosis].

Z Rheumatol 2020 Apr 6. Epub 2020 Apr 6.

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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http://dx.doi.org/10.1007/s00393-020-00778-3DOI Listing

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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http://dx.doi.org/10.1638/2019-0005DOI Listing

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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http://dx.doi.org/10.2147/TCRM.S219979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041433PMC
February 2020

Assessment of effectiveness of anakinra and canakinumab in patients with colchicine-resistant/unresponsive familial Mediterranean fever.

Adv Rheumatol 2020 01 30;60(1):12. Epub 2020 Jan 30.

Department of Biostatistic, Medical Faculty, Sivas Cumhuriyet University, Sivas, Turkey.

İNTRODUCTION: Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease characterized by recurrent fever and serosal inflammation. Anti-interleukin-1 (Anti-IL-1) treatments are recommended in colchicine resistant and/or intolerant FMF patients. This study aims to evaluate the efficacy of anakinra and canakinumab in FMF patients that are resistant/intolareted to colchicine or complicated with amyloidosis. Read More

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http://dx.doi.org/10.1186/s42358-020-0117-1DOI Listing
January 2020

A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.

Mol Biol Rep 2020 Mar 27;47(3):1835-1843. Epub 2020 Jan 27.

Department of Medical Genetics, Haseki Training and Research Hospital, İstanbul, Turkey.

Familial Mediterranean fever is an auto inflammatory genetic disease involving especially Turks, Armenians, Arabs and non-Ashkenazi Jews and caused by variants in the MEFV gene. In this study, we aimed to evaluate the distribution and frequency of clinical, MEFV gene variants in FMF patients and the relationship between mutations in different exons and phenotype-genotype and clinical findings. 1028 patients diagnosed as FMF were included. Read More

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http://dx.doi.org/10.1007/s11033-020-05277-xDOI Listing

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.

J Neurol 2020 Jan 6. Epub 2020 Jan 6.

Amyloidosis Center Foundation, IRCCS Policlinico San Matteo, San Matteo, Italy.

Amyloid transthyretin (ATTR) amyloidosis with polyneuropathy (PN) is a progressive, debilitating, systemic disease wherein transthyretin protein misfolds to form amyloid, which is deposited in the endoneurium. ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in the TTR gene and may involve the heart as well as other organs. Read More

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http://dx.doi.org/10.1007/s00415-019-09688-0DOI Listing
January 2020

Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Pac Symp Biocomput 2020 ;25:575-586

Cleveland Institute for Computational Biology, Case Western Reserve University, Wolstein Research Building, 2103 Cornell Road, Cleveland, OH 44106, USA.

Return of results is not common in research settings as standards are not yet in place for what to return, how to return, and to whom. As a pioneer of large-scale of return of research results, the Precision Medicine Initiative Cohort now known of All of Us plans to return pharmacogenomic results and variants of clinical significance to its participants starting late 2019. To better understand the local landscape of possibilities regarding return of research results, we assessed the frequency of pathogenic variants and APOL1 renal risk variants in a small diverse cohort of chronic kidney disease patients (CKD) ascertained from a public hospital in Cleveland, Ohio genotyped on the Illumina Infinium MegaEX. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6931908PMC
January 2020

AA Amyloidosis After Renal Transplantation: An Important Cause of Mortality.

Transplantation 2019 Oct 30. Epub 2019 Oct 30.

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

Background: There is 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, 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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http://dx.doi.org/10.1097/TP.0000000000003043DOI Listing
October 2019
1 Read

[Inborn errors of high-density lipoprotein metabolism].

Internist (Berl) 2019 Dec;60(12):1311-1318

Institut für Klinische Chemie, Universitätsspital Zürich und Universität Zürich, Rämistrasse 100, 8091, Zürich, Schweiz.

Both low and very high levels of high-density lipoprotein cholesterol (HDL-C) increase the risk of atherosclerotic cardiovascular disease (ASCVD) and shorten life expectancy. Low and high levels of HDL‑C are often caused by underlying diseases, lifestyle or medication, which should primarily be excluded. Much less frequently, monogenic diseases due to mutations in the APOA1, ABCA1 and LCAT genes are the cause of very low or unmeasurable HDL‑C levels or in the CETP, LIPC and SCARB1 genes for very high HDL‑C values. Read More

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http://dx.doi.org/10.1007/s00108-019-00700-3DOI Listing
December 2019

[Current approaches for treatment of hereditary transthyretin amyloidosis (ATTR)].

Dtsch Med Wochenschr 2019 10 8;144(20):1438-1443. Epub 2019 Oct 8.

Medizinische Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster.

Rare, progressive, and fatal is a short description for autosomal dominant hereditary transthyretin (TTR) amyloidosis (ATTR). In the absence of a family background, delays in diagnosis are common. ATTR is often represented by a progressive, axonal fiber-length-dependent polyneuropathy (motor, autonomic, sensory). Read More

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http://dx.doi.org/10.1055/a-0848-9610DOI Listing
October 2019

Canakinumab in Children with Familial Mediterranean Fever: A Single-Center, Retrospective Analysis.

Paediatr Drugs 2019 Oct;21(5):389-395

Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, 01331, Turkey.

Introduction: Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by interleukin (IL)-1 overproduction. Colchicine is the mainstay drug in the treatment of FMF; however, a minority of patients do not respond despite the highest tolerated doses. We aimed to share our experience with canakinumab, a human monoclonal antibody against IL-1β, in pediatric FMF patients. Read More

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http://dx.doi.org/10.1007/s40272-019-00354-6DOI Listing
October 2019
4 Reads

Outcomes of Canakinumab Treatment in Recipients of Kidney Transplant With Familial Mediterranean Fever: A Case Series.

Transplant Proc 2019 Sep 7;51(7):2292-2294. Epub 2019 Aug 7.

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

Familial Mediterranean fever (FMF) is an important and preventable cause of chronic kidney disease due to secondary amyloidosis. Although colchicine is the first-line therapy in patients with FMF with 60% to 65% complete remission rates, 5% to 10% of patients are colchicine-resistant and 5% to 10% of them are intolerant to the therapy. Anti-interleukin-1 agents, such as anakinra and canakinumab, are safe and efficient therapeutic options in patients with colchicine resistance or intolerance. Read More

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http://dx.doi.org/10.1016/j.transproceed.2019.03.049DOI Listing
September 2019
6 Reads

Long-term Results of Kidney Transplantation in Patients With Familial Mediterranean Fever and Amyloidosis.

Transplant Proc 2019 Sep 7;51(7):2289-2291. Epub 2019 Aug 7.

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

Introduction: Amyloid A amyloidosis is most commonly caused by familial Mediterranean fever (FMF) in Turkey. Amyloidosis secondary to FMF is an important cause of end-stage renal failure, and kidney transplantation (KT) in these cases can be complicated, with long-term results oftentimes inferior compared with organ transplant in patients without FMF. The present study aims to show the long-term results of patients with secondary amyloidosis caused by FMF undergoing KT . Read More

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http://dx.doi.org/10.1016/j.transproceed.2019.04.074DOI Listing
September 2019
5 Reads

British kindred with dominant FMF associated with high incidence of AA amyloidosis caused by novel MEFV variant, and a review of the literature.

Rheumatology (Oxford) 2020 Mar;59(3):554-558

National Amyloidosis Centre, University College London, UK.

Objectives: Hereditary systemic autoinflammatory diseases are rare genetic disorders, which if untreated, can be complicated by AA amyloidosis leading to renal failure and premature death. Our objective was to find a genetic cause in a British family with a dominantly inherited autoinflammatory disease complicated by AA amyloidosis.

Methods: The index patient and his sister underwent comprehensive clinical and laboratory assessment including the next-generation sequencing panel targeting autoinflammatory genes. Read More

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http://dx.doi.org/10.1093/rheumatology/kez334DOI Listing
March 2020
8 Reads

IL-1 blockers together with colchicine may be administered as first line therapy in familial Mediterranean fever with amyloidosis.

Med Hypotheses 2019 Sep 10;130:109269. Epub 2019 Jun 10.

University of Health Sciences, Kartal Dr. Lutfi Kirdar Training and Research Hospital, Department of Rheumatology, Turkey. Electronic address:

Colchicine is the first choice of the treatment in familial Mediterranean fever (FMF). However, in FMF patients with amyloidosis, especially during creatinine level >1.5 mg/dL and nephrotic range proteinuria, colchicine may be ineffective. Read More

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http://dx.doi.org/10.1016/j.mehy.2019.109269DOI Listing
September 2019
1 Read

Atrial fibrillation and subtype of atrial fibrillation in cardiac amyloidosis: clinical and echocardiographic features, impact on mortality.

Amyloid 2019 Sep 7;26(3):128-138. Epub 2019 Jun 7.

a Department of Cardiology, Rangueil University Hospital , Toulouse , France.

Atrial fibrillation (AF) commonly affects patients with cardiac amyloidosis (CA). Amyloid deposition within the left atrium may be responsible for the subtype of AF in either permanent or non-permanent form. The prognostic implications of AF and its clinical subtype according to the type of CA are still controversial in this population. Read More

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http://dx.doi.org/10.1080/13506129.2019.1620724DOI Listing
September 2019
23 Reads

Anti-interleukin-1 treatment among patients with familial Mediterranean fever resistant to colchicine treatment. Retrospective analysis.

Sao Paulo Med J 2019 May;137(1):39-44

MD. Professor, Division of Rheumatology, Adnan Menderes Üniversitesi Tıp Fakültesi, Aydın, Turkey.

Background: Up to 5% of familial Mediterranean fever (FMF) cases are unresponsive to colchicine, through resistance, side effects and toxicity. Anakinra is an alternative treatment for FMF patients whose disease remains uncontrolled with colchicine. We aimed to evaluate anti-interleukin-1 treatment regarding clinical findings, laboratory parameters and quality of life (QoL) among FMF patients presenting resistance and toxicity towards colchicine. Read More

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http://dx.doi.org/10.1590/1516-3180.2018.0311101218DOI Listing
May 2019
7 Reads

Renal Infarction and Its Consequences for Renal Function in Patients With Cardiac Amyloidosis.

Mayo Clin Proc 2019 06 15;94(6):961-975. Epub 2019 May 15.

Assistance Publique des Hôpitaux de ParisService de Néphrologie et Transplantation, Créteil, 94000, France; Centre de Référence Maladie Rare Syndrome Néphrotique Idiopathique de l'Enfant et de l'Adulte, Créteil, 94000, France; Réseau Amylose Mondor, Groupe de Recherche Clinique sur les Amyloses Amyloid Research Institute, Centre de référence des amyloses cardiaques, Université Paris Est Créteil, France; Groupe Hospitalier Henri-Mondor/Albert Chenevier, Université Paris Est Créteil, France; and Equipe 21, Institut National de la Santé et de la Recherche Médicale (INSERM) U955, Institut Mondor de Recherche Biomédicale (IMRB), Université Paris Est Créteil, France. Electronic address:

Objective: To describe the prevalence of and risk factors for renal infarction (RI) in patients with cardiac amyloidosis.

Patients And Methods: We evaluated 87 patients with cardiac amyloidosis who underwent renal technetium-99m-labeled dimercaptosuccinic acid scintigraphy in the Amyloidosis Referral Center of Henri-Mondor Hospital from October 1, 2015, through February 28, 2018.

Results: Three groups of patients were identified according to the underlying amyloidosis disorder: AL amyloidosis in 24 patients, mutated-transthyretin amyloidosis in 24 patients, and wild-type transthyretin amyloidosis in 39 patients. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00256196193020
Publisher Site
http://dx.doi.org/10.1016/j.mayocp.2019.02.012DOI Listing
June 2019
26 Reads

Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.

Front Immunol 2019 16;10:802. Epub 2019 Apr 16.

Paediatric Rheumatology and Autoinflammatory Diseases Unit, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, General University Hospital in Prague, Charles University, Prague, Czechia.

Muckle-Wells syndrome (MWS) represents a moderate phenotype of cryopyrinopathies. Sensorineural hearing loss and AA amyloidosis belong to the most severe manifestations of uncontrolled disease. Simultaneous discovery of MWS in four generations of one large kindred has enabled us to document natural evolution of untreated disease and their response to targeted therapy. Read More

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http://dx.doi.org/10.3389/fimmu.2019.00802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477140PMC
April 2019
9 Reads

Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure.

Case Rep Nephrol 2019 17;2019:6819476. Epub 2019 Mar 17.

Hospital Amato Lusitano, Castelo Branco, Portugal.

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is a rare monogenic autoinflammatory disease. Its most severe manifestation is secondary amyloidosis. A 44-year-old male presented with nephrotic syndrome. Read More

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http://dx.doi.org/10.1155/2019/6819476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441500PMC
March 2019
10 Reads

A 44-year-old female with familial Mediterranean fever, cardiomyopathy and end stage renal disease.

Brain Pathol 2019 03;29(2):312

Section of Neuropathology, Brain Research Institute, Ronald Reagan University of California, Los Angeles, CA.

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http://dx.doi.org/10.1111/bpa.12713DOI Listing
March 2019
19 Reads

Droxidopa for the treatment of neurogenic orthostatic hypotension in neurodegenerative diseases.

Expert Opin Pharmacother 2019 Apr 7;20(6):635-645. Epub 2019 Feb 7.

c Services de Pharmacologie Clinique et Neurosciences, Centre d'Investigation Clinique CIC 1436, NS-Park/FCRIN Network, NeuroToul COEN Center , Université de Toulouse UPS, CHU de Toulouse, INSERM , Toulouse , France.

Introduction: L-threo-3,4-dihydroxyphenylserine (droxidopa), a pro-drug metabolized to norepinephrine in nerve endings and other tissues, has been commercially available in Japan since 1989 for treating orthostatic hypotension symptoms in Parkinson's disease (PD) patients with a Hoehn & Yahr stage III rating, as well as patients with Multiple System Atrophy (MSA), familial amyloid polyneuropathy, and hemodialysis. Recently, the FDA has approved its use in symptomatic neurogenic orthostatic hypotension (NOH). Areas covered: The authors review the effects of droxidopa in NOH with a focus on the neurodegenerative diseases PD, MSA, and pure autonomic failure (PAF). Read More

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http://dx.doi.org/10.1080/14656566.2019.1574746DOI Listing
April 2019
11 Reads

Commentary to "A 44-year-old female with familial Mediterranean fever, cardiomyopathy and end stage renal disease" by Magaki et al.

Brain Pathol 2019 03;29(2):311

Department of Pathology, Sorbonne Université, AP-HP, Tenon Hospital, Paris, France.

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http://dx.doi.org/10.1111/bpa.12712DOI Listing
March 2019
21 Reads

[Prenatal care in patients with renal disease].

Dtsch Med Wochenschr 2019 01 2;144(1):35-38. Epub 2019 Jan 2.

Universitätsfrauenklinik Freiburg.

History And Clinical Findings: We report of three pregnancies, two with renal insufficiency and one with a history of renal transplantation. Pat.1 is a 32y at 20 weeks of gestation with acute renal failure, nephrotic syndrome and history of familial Mediterranean fever. Read More

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http://dx.doi.org/10.1055/a-0794-8391DOI Listing
January 2019
13 Reads

A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient.

J Cardiol Cases 2018 Dec 22;18(6):185-188. Epub 2018 Oct 22.

Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.

Hereditary transthyretin-related amyloidosis (ATTR, MIM #105210), also previously known as familial amyloidotic polyneuropathy, is one of the most life-threatening types of amyloidosis. ATTR is inherited in autosomal dominant mode with variable penetrance. If untreated, it is a relentless and lethal disease. Read More

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http://dx.doi.org/10.1016/j.jccase.2018.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306574PMC
December 2018
35 Reads

Familial Mediterranean fever-associated renal amyloidosis: case report and review of the literature.

Rom J Morphol Embryol 2019 ;60(4):1299-1303

Department of Nephrology, "Fundeni" Clinical Institute, Bucharest, Romania;

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease, which is diagnosed especially in Mediterranean patients, but is a rare disorder in our geographical area. Due to its rarity and symptoms consisting mainly in recurrent episodes of fever and serositis, it may be mistaken with other, more frequent diseases, especially acute abdomen and systemic rheumatic diseases. The most important life-threatening complication is secondary amyloidosis, which usually affects kidneys, with proteinuria up to nephrotic syndrome and chronic kidney disease progressing to end-stage renal disease requiring dialysis or transplantation. Read More

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January 2019

AA amyloidosis associated with morbid obesity (clinical case).

Reumatol Clin 2018 Dec 4. Epub 2018 Dec 4.

Pathological Anatomy Service, Cabueñes Hospital, Gijón, Asturias, Spain.

We present the case of a 45-year-old woman who was hospitalized due to severe macrocytic anemia and renal failure. The patient presented a morbid obesity. The immunological study showed anti-ENA anti-SSA (Ro52) positive, with negative antinuclear antibodies. Read More

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http://dx.doi.org/10.1016/j.reuma.2018.09.001DOI Listing
December 2018
10 Reads

Myocardial Contraction Fraction by M-Mode Echocardiography Is Superior to Ejection Fraction in Predicting Mortality in Transthyretin Amyloidosis.

J Card Fail 2018 Aug 17;24(8):504-511. Epub 2018 Aug 17.

Department of Medicine, Columbia University Medical Center, New York, New York. Electronic address:

Background: Transthyretin amyloidosis (ATTR) is often associated with cardiac involvement manifesting as conduction disease as well as restrictive cardiomyopathy causing heart failure and death. Myocardial contraction fraction (MCF), the ratio of left ventricular stroke volume (SV) to myocardial volume (MV), is a volumetric measure of myocardial shortening that is superior to ejection fraction (EF) in predicting mortality in patients with primary amyloid light chain cardiac amyloidosis. We hypothesized that MCF would be an independent predictor of survival in TTR-CA. Read More

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http://dx.doi.org/10.1016/j.cardfail.2018.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372291PMC
August 2018
19 Reads

Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis.

Nephrology (Carlton) 2018 Jul;23 Suppl 2:17-21

Department of Kidney Center, Masuko Memorial Hospital, Nagoya, Japan.

Apolipoprotein A-I amyloidosis is a rare, autosomal dominant disorder of APOA-1 gene characterized by the deposition of apolipoprotein A-I in various organs and can be classified into either hereditary or nonhereditary form in the absence of a family history. Renal disease caused by Apolipoprotein A-I amyloidosis commonly manifested as slowly progressive renal function impairment without heavy proteinuria. Apolipoprotein A-I-related amyloidosis of kidney is of pathogenetic interest because the renal failure is due to peritubular and interstitial amyloid deposits without glomerular deposits. Read More

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http://dx.doi.org/10.1111/nep.13278DOI Listing
July 2018
16 Reads

Profile of renal AA amyloidosis in older and younger individuals: a single-centre experience.

Amyloid 2018 Jun 18;25(2):115-119. Epub 2018 May 18.

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

Objective: In epidemiological studies of amyloid A (AA) amyloidosis from Turkey, the most frequently cause was familial Mediterranean fever (FMF) and it occurs generally in young age population. However, there are no sufficient data regarding aetiology, clinical presentation and prognosis of renal AA amyloidosis in advanced age patients. In this study, we aimed to investigate demographic, clinical presentation, aetiology and outcomes of adults aged 60 years or older patients with biopsy-proven renal AA amyloidosis. Read More

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http://dx.doi.org/10.1080/13506129.2018.1474733DOI Listing
June 2018
52 Reads

Efficacy and safety of interleukin-1 inhibitors in familial Mediterranean fever patients complicated with amyloidosis.

Mod Rheumatol 2019 Mar 27;29(2):363-366. Epub 2018 Apr 27.

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

Background: Colchicine is the mainstay of the treatment of familial Mediterranean fever (FMF). However, 10% of FMF patients do not respond well to colchicine. Efficacy of interleukin (IL)-1 inhibitors in reducing attacks have been demonstrated in colchicine-resistant FMF (crFMF) patients recently. Read More

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http://dx.doi.org/10.1080/14397595.2018.1457469DOI Listing
March 2019
25 Reads

[Transthyretin Familial Amyloid Polyneuropathy - Disease Profile of a Multisystem Disorder].

Dtsch Med Wochenschr 2018 Mar 15;143(6):427-430. Epub 2018 Mar 15.

Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated. Read More

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http://dx.doi.org/10.1055/s-0043-123681DOI Listing
March 2018
27 Reads

Single-centre experience on transthyretin familial amyloid polyneuropathy: case series and literature review.

Acta Neurol Belg 2018 Jun 9;118(2):179-185. Epub 2018 Mar 9.

Department of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium.

Familial amyloid polyneuropathy (FAP) is a most often length-dependent axonal neuropathy, often part of a multisystem disorder also affecting other organs, such as cardiac, gastrointestinal, genitourinary, renal, meningeal and eye tissue. It is most frequently the result of a mutation in the TTR gene, most commonly a p.Val50Met mutation. Read More

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http://dx.doi.org/10.1007/s13760-018-0906-zDOI Listing
June 2018
78 Reads

Canakinumab treatment in children with familial Mediterranean fever: report from a single center.

Rheumatol Int 2018 May 15;38(5):879-885. Epub 2018 Feb 15.

Pediatric Nephrology and Rheumatology Department, Ankara Dr. Sami Ulus Maternity and Children Hospital, Babur Caddesi No. 44, Altındağ, Ankara, Turkey.

Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment. Read More

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http://link.springer.com/10.1007/s00296-018-3993-5
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http://dx.doi.org/10.1007/s00296-018-3993-5DOI Listing
May 2018
30 Reads

Canakinumab treatment in renal transplant recipients with familial Mediterranean fever.

J Nephrol 2018 06 14;31(3):453-455. Epub 2018 Feb 14.

Nephrology Department, Hacettepe University Medical Faculty, Sihhiye, Ankara, Turkey.

Colchicine is the first-line treatment for familial Mediterranean fever (FMF), preventing both inflammatory attacks as well as the development of amyloidosis in the majority of the patients. However approximately 5-10% of patients are colchicine resistant/intolerant. Side effects of colchicine are more prominent in renal transplant recipients due to interaction with immunosuppressive drugs. Read More

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http://dx.doi.org/10.1007/s40620-018-0475-5DOI Listing
June 2018
21 Reads

Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia: Clinical and Molecular Characteristics.

Int J Mol Sci 2018 Jan 22;19(1). Epub 2018 Jan 22.

Department of Clinical Laboratory Medicine, Shinshu University School of Health Sciences, Matsumoto 390-8621, Japan.

Hereditary fibrinogen Aα-chain amyloidosis (Aα-chain amyloidosis) is a type of autosomal dominant systemic amyloidosis caused by mutations in α gene (). Patients with Aα-chain amyloidosis have been mainly reported in Western countries but have been rarely reported in Asia, with only five patients with Aα-chain amyloidosis being reported in Korea, China, and Japan. Clinically, the most prominent manifestation in Asian patients with Aα-chain amyloidosis is progressive nephropathy caused by excessive amyloid deposition in the glomeruli, which is similar to that observed in patients with Aα-chain amyloidosis in Western countries. Read More

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http://dx.doi.org/10.3390/ijms19010320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5796263PMC
January 2018
15 Reads

Atypical familial Mediterranean fever developed in a long-term hemodialysis patient.

Hemodial Int 2018 04 18;22(2):E19-E22. Epub 2018 Jan 18.

Department of Nephrology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.

Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. Read More

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http://dx.doi.org/10.1111/hdi.12628DOI Listing
April 2018
33 Reads

A 44-Year-Old Female with Familial Mediterranean Fever, Cardiomyopathy and End Stage Renal Disease.

Brain Pathol 2018 01;28(1):135-136

Section of Neuropathology, Brain Research Institute, Ronald Reagan University of California, Los Angeles, CA.

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http://dx.doi.org/10.1111/bpa.12581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6130257PMC
January 2018
17 Reads

Efficacy of anakinra in a patient with systemic amyloidosis presenting as amyloidoma.

Int J Rheum Dis 2018 Feb 13;21(2):552-559. Epub 2017 Dec 13.

Department of Radiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. Read More

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http://dx.doi.org/10.1111/1756-185X.13250DOI Listing
February 2018
57 Reads

Prevalence of Monoclonal Gammopathy in Wild-Type Transthyretin Amyloidosis.

Mayo Clin Proc 2017 Dec;92(12):1800-1805

Cardiac Amyloidosis Program, Brigham and Women's Hospital, Harvard Medical School, Boston, MA. Electronic address:

Objective: To evaluate the prevalence of monoclonal gammopathy (MG) in patients with wild-type transthyretin amyloidosis (ATTRwt) (formerly known as senile amyloidosis).

Patients And Methods: We retrospectively analyzed the serum protein electrophoresis and serum immunofixation results, free light chain (FLC) levels, and renal function of 113 consecutive patients with ATTRwt seen at the Brigham and Women's Hospital's Cardiac Amyloidosis Program between February 21, 2006, and November 9, 2016. Monoclonal gammopathy was defined as a monoclonal protein present in the serum. Read More

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http://dx.doi.org/10.1016/j.mayocp.2017.09.016DOI Listing
December 2017
51 Reads

First nationwide survey on systemic wild-type ATTR amyloidosis in Japan.

Amyloid 2018 Mar 28;25(1):8-10. Epub 2017 Nov 28.

c Department of Neurology , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan.

Objective: A nationwide survey on systemic wild-type ATTR (ATTRwt) amyloidosis was conducted to elucidate the frequency, clinical picture and possible diagnostic issues of ATTRwt amyloidosis in Japan.

Methods: A questionnaire was sent to 4629 clinical departments across Japan. A total of 2341 (50. Read More

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http://dx.doi.org/10.1080/13506129.2017.1409706DOI Listing
March 2018
22 Reads

Cell milieu significantly affects the fate of AApoAI amyloidogenic variants: predestination or serendipity?

Biochim Biophys Acta Gen Subj 2018 Mar 23;1862(3):377-384. Epub 2017 Nov 23.

Department of Chemical Sciences, University of Naples Federico II, 80126 Naples, Italy; Istituto Nazionale di Biostrutture e Biosistemi (INBB), Italy. Electronic address:

Background: Specific apolipoprotein A-I variants are associated to severe hereditary amyloidoses. The organ distribution of AApoAI amyloidosis seems to depend on the position of the mutation, since mutations in residues from 1 to 75 are mainly associated to hepatic and renal amyloidosis, while mutations in residues from 173 to 178 are mostly responsible for cardiac, laryngeal, and cutaneous amyloidosis. Molecular bases of this tissue specificity are still poorly understood, but it is increasingly emerging that protein destabilization induced by amyloidogenic mutations is neither necessary nor sufficient for amyloidosis development. Read More

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http://dx.doi.org/10.1016/j.bbagen.2017.11.018DOI Listing
March 2018
12 Reads

Clinical outcomes and survival in AA amyloidosis patients.

Rev Bras Reumatol Engl Ed 2017 Nov - Dec;57(6):535-544. Epub 2017 Mar 23.

Uludağ University Faculty of Medicine, Department of Nephrology, Bursa, Turkey.

Aim: Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure and death. We studied clinical characteristics and survival in patients with amyloid A amyloidosis. Read More

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http://dx.doi.org/10.1016/j.rbre.2017.02.002DOI Listing
August 2019
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VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.

Blood 2017 12 31;130(25):2799-2807. Epub 2017 Oct 31.

Institut National de la Santé et de la Recherche Médicale, Unité mixte de Recherche U_1163, Institut IMAGINE, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

The first case of hereditary fibrinogen Aα-chain amyloidosis was recognized >20 years ago, but disease mechanisms still remain unknown. Here we report detailed clinical and proteomics studies of a French kindred with a novel amyloidogenic fibrinogen Aα-chain frameshift variant, Phe521Leufs, causing a severe familial form of renal amyloidosis. Next, we focused our investigations to elucidate the molecular basis that render this Aα-chain variant amyloidogenic. Read More

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2017-07
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http://dx.doi.org/10.1182/blood-2017-07-796185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843806PMC
December 2017
53 Reads