582 results match your criteria Amyloidosis Familial Renal


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

Brain Pathol 2019 Feb 1. Epub 2019 Feb 1.

Pathology, Tenon Hospital, Paris, France.

We would like to comment on the "Case of the Month" by Magaki et al, entitled "A 44-year old female with familial Mediterranean fever, cardiomyopathy, and end stage renal disease" (3). In this case report, the authors describe the autopsy findings in a patient with systemic AA amyloidosis secondary to familial Mediterranean fever. The patient also had cardiomyopathy with severely reduced left ventricular ejection and death due to cardiac arrest; however, no details about cardiovascular risk factors, cardiac pre-mortem explorations, and heart gross examination were provided. Read More

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http://dx.doi.org/10.1111/bpa.12712DOI Listing
February 2019
1 Read

[Prenatal care in patients with renal disease].

Dtsch Med Wochenschr 2019 Jan 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
2 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
2 Reads

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
2 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
7 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
23 Reads

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

Mod Rheumatol 2018 Apr 27:1-4. 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
April 2018
13 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
10 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
35 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
13 Reads

Canakinumab treatment in renal transplant recipients with familial Mediterranean fever.

J Nephrol 2018 Jun 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
10 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
5 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
14 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
9 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
21 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
20 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
14 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
4 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
March 2017
18 Reads

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
34 Reads

International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.

Rheumatology (Oxford) 2017 12;56(12):2102-2108

National Amyloidosis Centre, University College London Medical School, London, UK.

Objective: To provide outcome data concerning pregnancies exposed to the Interleukin-1 (IL-1) inhibitors prior to conception in both men and women, during pregnancy and breast feeding.

Methods: Retrospective data were collected from members of the International Society for Systemic Autoinflammatory diseases and collated in a single centre. A uniform data collection sheet was used to obtain standardized data including maternal age and diagnosis, type, duration of and response to IL-1 blockade, pregnancy duration, delivery, mode of feeding and neonatal development. Read More

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http://dx.doi.org/10.1093/rheumatology/kex305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251516PMC
December 2017
16 Reads

Apolipoprotein A-1-related amyloidosis 2 case reports and review of the literature.

Medicine (Baltimore) 2017 Sep;96(39):e8148

Department of National Clinical Research Center of Kidney Disease, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China.

Rationale: Apolipoprotein A-1 (ApoA-1)-related amyloidosis is characterized by the deposition of ApoA-1 in various organs and can be either hereditary or nonhereditary. It is rare and easily misdiagnosed. Renal involvement is common in hereditary ApoA-1 amyloidosis, but rare in the nonhereditary form. Read More

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http://Insights.ovid.com/crossref?an=00005792-201709290-0004
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http://dx.doi.org/10.1097/MD.0000000000008148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626298PMC
September 2017
18 Reads

Familial Mediterranean Fever Is Associated With Increased Mortality After Kidney Transplantation-A 19 Years' Single Center Experience.

Transplantation 2017 10;101(10):2621-2626

1 Department of Internal Medicine B, Rabin Medical Center, Beilinson Campus, Petah-Tikva, Israel. 2 Department of Nephrology and Hypertension, Rabin Medical Center, Beilinson Campus, Petah-Tikva, Israel. 3 Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 4 Department of Transplantation, Rabin Medical Center, Beilinson Campus, Petah- Tikva, Israel. 5 Department of Medicine and Heller Institute of Medical Research, Sehba Medical Center, Ramat-Gan, Israel.

Background: Current data regarding the outcome of kidney transplantation in patients with familial Mediterranean fever (FMF) who reach end-stage renal disease (ESRD) due to reactive amyloidosis A (AA) are scarce and inconclusive.

Methods: The outcomes of 20 patients with FMF and biopsy-proven AA amyloidosis that were transplanted between 1995 and 2014 were compared with 82 control patients (32 with diabetes mellitus and 50 with nondiabetic kidney disease). Major outcome data included overall patient and graft survivals. Read More

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http://dx.doi.org/10.1097/TP.0000000000001681DOI Listing
October 2017
8 Reads

AA Amyloidosis and Atypical Familial Mediterranean Fever with Exon 2 and 3 Mutations.

Case Rep Nephrol Dial 2017 May-Aug;7(2):102-107. Epub 2017 Jul 11.

Nephrology Center, Toranomon Hospital, Tokyo, Japan.

A 54-year-old Japanese man presented with recurrent abdominal pain, fever lasting >5 days, and renal failure. AA amyloidosis was proven by renal and gastric biopsy. Symptoms subsided with the administration of colchicine, but a subsequent recurrence of symptoms did not respond to colchicine. Read More

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http://dx.doi.org/10.1159/000478006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567010PMC
July 2017
10 Reads

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.

BMC Med Genet 2017 08 31;18(1):97. Epub 2017 Aug 31.

Nephrology Department, La Paz University Hospital, IdiPAZ, Autonomous University, Madrid, Spain.

Background: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Read More

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http://dx.doi.org/10.1186/s12881-017-0457-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579934PMC
August 2017
31 Reads

Familial Mediterranean fever in childhood: a single-center experience.

Rheumatol Int 2018 Jan 21;38(1):67-74. Epub 2017 Aug 21.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, İstanbul, Turkey.

The aim of this study is to present demographic and clinical features, MEFV mutation variations, and treatment response of a large number of pediatric familial Mediterranean fever (FMF) patients from a single tertiary centre. Moreover, we aimed to investigate the current outcome of FMF, namely frequency of amyloidosis in children with FMF. We evaluated 708 FMF patients who were followed up in our clinic and who were under colchicine treatment for at least 6 months. Read More

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http://dx.doi.org/10.1007/s00296-017-3796-0DOI Listing
January 2018
43 Reads

Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report.

J Med Case Rep 2017 Aug 13;11(1):222. Epub 2017 Aug 13.

Department of Ophthalmology, Hôpital Cochin, AP-HP, Université Paris-Descartes, 75014, Paris, France.

Background: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributions and associated with a wide range of phenotypes involving the peripheral nerve, the heart, the gastrointestinal tract, the eyes, the central nervous system, or the kidneys. In some cases of transthyretin amyloidosis, the first clinical manifestation is vitreous opacity. Read More

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http://dx.doi.org/10.1186/s13256-017-1407-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554541PMC
August 2017
38 Reads

Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy.

Amyloid 2017 Sep 18;24(3):153-161. Epub 2017 Jul 18.

b Signal Processing Lab, COPPE/Poli , Universidade Federal do Rio de Janeiro , Rio de Janeiro , Brazil.

Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. Read More

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http://dx.doi.org/10.1080/13506129.2017.1343714DOI Listing
September 2017
19 Reads

Familial Mediterranean fever, review of the literature.

Authors:
Mansour Alghamdi

Clin Rheumatol 2017 Aug 18;36(8):1707-1713. Epub 2017 Jun 18.

Ministry of Health, King Fahd Hospital, Al Baha, Saudi Arabia.

Familial Mediterranean fever (FMF) is the most common monogenic periodic fever syndrome and characterized by recurrent episodes of fever, serositis, arthritis, dermal manifestations, and long-term renal complications. The MEFV gene was described in 1997 as the gene responsible for FMF and is inherited in autosomal recessive manner. It encodes mutated protein pyrin, an important player in the innate immune system and the component of inflammasome which leads to exaggerated inflammatory response through uncontrolled production of interleukin-1. Read More

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http://dx.doi.org/10.1007/s10067-017-3715-5DOI Listing
August 2017
18 Reads

Tocilizumab in the treatment of twelve cases with aa amyloidosis secondary to familial mediterranean fever.

Orphanet J Rare Dis 2017 05 30;12(1):105. Epub 2017 May 30.

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

Background: There is no established treatment of AA amyloidosis, a long-term complication of various chronic inflammatory diseases associated with increased mortality, such as familial Mediterranian fever (FMF). Recently there are few reports pointing out that tocilizumab(TCZ), an anti IL-6 agent may be effective in AA amyloidosis resistant to conventional treatments. We report our data on the effect of TCZ in patients with FMF complicated with AA amyloidosis. Read More

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http://dx.doi.org/10.1186/s13023-017-0642-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5450086PMC
May 2017
39 Reads

Efficacy and safety of anakinra in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) complicated by severe renal failure: a report after long-term follow-up and review of the literature.

Clin Rheumatol 2017 Jul 23;36(7):1687-1690. Epub 2017 May 23.

Research Center of Systemic Autoinflammatory Diseases, Behçet's Disease Clinic and Rheumatology-Ophthalmology Collaborative Uveitis Center, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), caused by mutations in the TNFRSF1A gene, is the most frequent autosomal dominant autonflammatory disease displaying a relevant risk of reactive AA amyloidosis, if left untreated. Our report deals with one adult with TRAPS complicated by amyloidosis-related renal failure, treated with the recombinant human interleukin-1 receptor antagonist anakinra at a higher than conventional dosage. This treatment did not present any adverse event and led remarkably to the disappearance of all TRAPS-related manifestations and prompt decrease of laboratory abnormalities, including proteinuria. Read More

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http://dx.doi.org/10.1007/s10067-017-3688-4DOI Listing
July 2017
33 Reads

A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever.

Orphanet J Rare Dis 2017 03 16;12(1):54. Epub 2017 Mar 16.

Department of Paediatrics Rheumatology, CEREMAI, Bicêtre Hospital, AP-HP, University of Paris SUD, Le Kremlin-Bicêtre, France.

Background: Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. Read More

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http://dx.doi.org/10.1186/s13023-017-0609-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356243PMC
March 2017
35 Reads
3.360 Impact Factor

Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.

Medicine (Baltimore) 2017 Mar;96(10):e5737

Institute of Nephrology, Department of Nephrology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, PR China.

Rationale: Hereditary amyloidosis is diagnosed worldwidely with an increasing incidence. As the most common form, transthyretin-related hereditary amyloidosis (ATTR amyloidosis) is an autosomal dominant inherited disease due to mutations of TTR. Over the past several decades, more than 130 mutations have been reported. Read More

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http://dx.doi.org/10.1097/MD.0000000000005737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5348144PMC
March 2017
22 Reads

Late Diagnosis of E148Q Mutation-Positive Familial Mediterranean Fever in a Kidney Transplant Patient With Fever of Unknown Origin: A Case Report.

Exp Clin Transplant 2017 Feb;15(Suppl 1):261-264

Department of Nephrology, Izmir Bozyaka Education and Research Hospital, Izmir, Turkey.

Fever of unknown origin is a rare condition after solid organ transplant and is generally associated with atypical infections (eg, tuberculosis, fungal infections) and/or lymphoproliferative disorders. Here, we present a kidney transplant patient with a late diagnosis of E148Q mutation-positive familial Mediterranean fever as the cause of fever of unknown origin. A 22-year-old female patient with a previous history of 4 years of hemodialysis and unknown primary renal disease received a deceased-donor kidney transplant at our center 5 years previously. Read More

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http://dx.doi.org/10.6002/ect.mesot2016.P131DOI Listing
February 2017
16 Reads

Infections After Renal Transplant in Recipients With Familial Mediterranean Fever: A Life-Threatening Issue.

Exp Clin Transplant 2017 Feb;15(Suppl 1):240-243

Department of Nephrology, Izmir Bozyaka Education and Research Hospital, Izmir, Turkey.

Objectives: We evaluated long-term results and infections requiring hospitalization in kidney transplant patients with Familial Mediterranean Fever (associated amyloidosis-type).

Materials And Methods: We retrospectively reviewed medical records of patients with familial Mediterranean fever with at least 1-year posttransplant follow-up. Kidney transplant recipients with primary glomerulonephritis and equivalent demography, immunity status, and follow-up comprised the control group. Read More

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http://dx.doi.org/10.6002/ect.mesot2016.P113DOI Listing
February 2017
14 Reads

Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.

J Am Soc Nephrol 2017 Feb 3;28(2):431-438. Epub 2017 Jan 3.

Departments of Laboratory Medicine and Pathology,

Lysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with renal impairment, gastrointestinal (GI) symptoms, and sicca syndrome, whereas cardiac involvement is exceedingly rare and neuropathy has not been reported. Here, we describe a 40-year-old man with renal impairment, cardiac and GI symptoms, and peripheral neuropathy. Renal biopsy specimen analysis revealed amyloidosis with extensive involvement of glomeruli, vessels, and medulla. Read More

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http://dx.doi.org/10.1681/ASN.2016090951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5280032PMC
February 2017
14 Reads
9.343 Impact Factor

The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever.

Eur J Med Genet 2017 Mar 10;60(3):149-153. Epub 2016 Dec 10.

Service de Néphrologie-Transplantation, Centre Hospitalo-Universitaire Mustapha, Algeria.

Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. Read More

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http://dx.doi.org/10.1016/j.ejmg.2016.12.003DOI Listing
March 2017
35 Reads
1.490 Impact Factor

Colchicine in Renal Medicine: New Virtues of an Ancient Friend.

Blood Purif 2017 13;43(1-3):125-135. Epub 2016 Dec 13.

Division of Nephrology, Department of Internal Medicine, Sakarya University Training and Research Hospital, Sakarya, Turkey.

Colchicine is a plant-derived alkaloid that disrupts the cell microtubule system and accumulates in neutrophils, inhibiting neutrophil adhesion and recruitment. Colchicine has been used extensively in the prevention and treatment of gouty arthritis attacks, familial Mediterranean fever attacks and resultant AA amyloidosis, and recurrent pericarditis. Colchicine also disrupts the intracellular traffic of additional inflammatory and fibrosis mediators. Read More

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http://dx.doi.org/10.1159/000454669DOI Listing
March 2017
21 Reads

Current and Future Treatment Approaches in Transthyretin Familial Amyloid Polyneuropathy.

Curr Treat Options Neurol 2016 Dec;18(12):53

Service de Neurologie, CHU Henri Mondor, 51 avenue de Lattre de Tassigny, 94000, Créteil, France.

Opinion Statement: Treatment of transthyretin familial amyloid polyneuropathy (TTR FAP) must be tailored to disease stage. Patients with early stage disease (i.e. Read More

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http://dx.doi.org/10.1007/s11940-016-0436-zDOI Listing
December 2016
12 Reads

Development of the autoinflammatory disease damage index (ADDI).

Ann Rheum Dis 2017 May 3;76(5):821-830. Epub 2016 Nov 3.

Department of Paediatrics, University Medical Centre Utrecht, Utrecht, The Netherlands.

Objectives: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Read More

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http://dx.doi.org/10.1136/annrheumdis-2016-210092DOI Listing
May 2017
44 Reads
2 Citations
10.380 Impact Factor

Role of galectin-3 in autoimmune and non-autoimmune nephropathies.

Autoimmun Rev 2017 Jan 23;16(1):34-47. Epub 2016 Sep 23.

Division of Rheumatology, Department of Medicine (DIMED), University of Padova, Italy. Electronic address:

Galectins are evolutionary conserved β-galactoside binding proteins with a carbohydrate-recognition domain (CRD) of approximately 130 amino acids. In mammals, 15 members of the galectin family have been identified and classified into three subtypes according to CRD organization: prototype, tandem repeat-type and chimera-type galectins. Galectin-3 (gal-3) is the only chimera type galectin in vertebrates containing one CRD linked to an unusual long N-terminal domain which displays non-lectin dependent activities. Read More

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http://dx.doi.org/10.1016/j.autrev.2016.09.023DOI Listing
January 2017
13 Reads

Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report.

BMC Res Notes 2016 Oct 19;9(1):473. Epub 2016 Oct 19.

Department of Urology, Akita University School of Medicine, 1-1-1 Hondo, Akita, 010-8543, Japan.

Background: Secondary bladder amyloidosis is an extremely rare disease, resulting from a chronic systematic inflammatory disorder associated with amyloid deposits. Although uncommon in Japan, familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent episodes of fever of short duration and serositis and is frequently associated with systemic amyloidosis. Here, we present a case of a Japanese patient complaining of fever and macroscopic hematuria after a living donor renal transplantation. Read More

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http://dx.doi.org/10.1186/s13104-016-2273-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070197PMC
October 2016
29 Reads

Liver transplantation in transthyretin amyloidosis: Characteristics and management related to kidney disease.

Transplant Rev (Orlando) 2017 04 14;31(2):115-120. Epub 2016 Sep 14.

Department of Nephrology, Hospital de Santo António, Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal; Unidade Corino de Andrade, Hospital de Santo António, Centro Hospitalar do Porto, Rua D. Manuel II, CICAP, 4050-345, Porto, Portugal; Multidisciplinary Unit for Biomedical Research UMIB, Instituto de Ciências Biomédicas, Abel Salazar, University of Porto, Rua Jorge Viterbo Ferreira, 228, Porto 4050-313, Portugal.

Orthotopic liver transplantation (LT) was implemented as the inaugural disease-modifying therapy for hereditary transthyretin (ATTR) amyloidosis, a systemic amyloidosis mainly affecting the peripheral nervous system and heart. The first approach to pharmacologic therapy was focused on the stabilization of the TTR tetramer; following that new advent LT was assumed as the second step of treatment, for those patients whose neuropathy becomes worse after a course of pharmacologic therapy. The renal disease has been ignored in hereditary ATTR amyloidosis. Read More

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http://dx.doi.org/10.1016/j.trre.2016.09.002DOI Listing
April 2017
9 Reads

The experience of canakinumab in renal amyloidosis secondary to Familial Mediterranean fever.

Mol Cell Pediatr 2016 Dec 15;3(1):33. Epub 2016 Aug 15.

Dr. Behcet Uz Children Diseases Teaching and Research Hospital Pediatric Nephrology, Izmir, Turkey.

Introduction: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limited recurrent attacks of fever and serositis. Patients may develop renal amyloidosis. Colchicine prevents attacks and renal amyloidosis. Read More

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http://dx.doi.org/10.1186/s40348-016-0058-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010548PMC
December 2016
7 Reads

[Familial Mediterranean fever – an important disease in a globalised world].

Lakartidningen 2016 08 22;113. Epub 2016 Aug 22.

Institutionen för kliniska vetenskaper, Sahlgrenska Akademin, Göteborgs Universitet - Avdelningen för pediatrik Göteborg, Sweden Institutionen för kliniska vetenskaper, Sahlgrenska Akademin, Göteborgs Universitet - Avdelningen för pediatrik Göteborg, Sweden.

Familial Mediterranean fever - an important disease in a globalised world Familial Mediterranean fever (FMF) is characterized by recurrent febrile attacks during 1/2-3 days associated with peritonitis, pleuritis and arthritis. FMF is the most common monogenic autoinflammatory disease in the world, with over 100 000 affected individuals. It is particularly common in individuals with an origin in the eastern Mediterranean Basin, where the disease has a prevalence of 100-200 per 100 000. Read More

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August 2016
5 Reads

The Prevalence and Management of Systemic Amyloidosis in Western Countries.

Kidney Dis (Basel) 2016 Apr 25;2(1):10-9. Epub 2016 Feb 25.

Department of Rheumatology & Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Background: Amyloidosis has been a mystery for centuries, but research of the last decennia has clarified many of the secrets of this group of diseases. A protein-based classification of amyloidosis helps to understand problems that were part of the obsolete clinical classification in primary, secondary, and familial amyloidosis. All types of amyloid are secondary to some underlying precursor-producing process: each type is caused by a misfolded soluble precursor protein that becomes deposited as insoluble amyloid fibrils. Read More

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http://dx.doi.org/10.1159/000444206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4946260PMC
April 2016
11 Reads

Transthyretin familial amyloid polyneuropathy (TTR-FAP) in Mallorca: a comparison between late- and early-onset disease.

J Peripher Nerv Syst 2016 12;21(4):352-356

Clinical Research Coordinator A-TTR Group, Son Llàtzer Hospital, Carretera de Manacor, Palma, Spain.

The age of onset (AO) of hereditary ATTR amyloidosis (hATTR) is known to vary between populations, with differing characteristics reported according to AO in endemic/non-endemic foci. This was a retrospective study of patients with early AO (<50 years) and late AO (≥50 years) hATTR at our center in Mallorca. Data were collected on patient demographics, clinical disease manifestation, and physical symptoms. Read More

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http://dx.doi.org/10.1111/jns.12180DOI Listing
December 2016
19 Reads

Causes of death and life span in Finnish gelsolin amyloidosis.

Ann Med 2016 08 2;48(5):352-8. Epub 2016 May 2.

e Department of Clinical Neurosciences, Neurology , University of Helsinki , Helsinki , Finland.

Background: Finnish type of hereditary gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominant disorder. Until recently, there has only been little knowledge of fatal complications of the disease and its possible impact on the patients' life span.

Methods: We identified 272 deceased patients based on patient interviews and genealogical data. Read More

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http://dx.doi.org/10.1080/07853890.2016.1177197DOI Listing
August 2016
7 Reads