757 results match your criteria: "Amyloidosis Familial Renal"
A20 haploinsufficiency diagnosis beyond systemic lupus erythematosus: A systematic review of the literature.
Autoimmun Rev
December 2024
Department of Clinical Immunology and Internal Medicine, CHU of Caen Normandie, 14000 Caen, France; Normandie Univ, UNICAEN, CHU de Caen Normandie, 14000 Caen, France.
Systemic lupus erythematosus (SLE) is an autoimmune disease whose pathophysiology remains incompletely understood, involving genetic and epigenetic factors. However, an increasing small subset of patients present with monogenic lupus, providing insight into the pathogenesis of the disease. This systematic review focuses on SLE associated with A20 haploinsufficiency (HA20), a monogenic disorder associated with tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3) variants.
View Article and Find Full Text PDFSustained Ventricular Tachycardia as the first presentation of transthyretin amyloid cardiomyopathy.
Rev Fac Cien Med Univ Nac Cordoba
December 2024
Instituto Modelo de Cardiología. División Cardiología.
Transthyretin Amyloid Cardiomyopathy (ATTR-CM) was considered an uncommon disease until a few years ago, but advances in the epidemiology and non-invasive diagnostic tests have increased its timely detection. We report a 71 years-old man with history of hypertension and an incidental carcinoma of the left kidney detected 6 years ago, without heart failure who was performed cardiac magnetic resonance images (MRI) by suspicion of hypertrophic cardiomyopathy. Before his cardiologist be aware of the result, he suffered a severe sustained ventricular tachycardia (SVT) that required emergency cardioversion.
View Article and Find Full Text PDFAnalysis of the Effects of SAA1 Gene Polymorphisms on Renal Involvement in a Familial Mediterranean Fever Jordanian Population.
Eurasian J Med
September 2024
Department of Internal Medicine, Jordan University Hospital, Jordan University, Amman, Jordan.
Familial Mediterranean Fever (FMF) is an inherited autosomal recessive disorder resulting from the inheritance of MEFV gene mutations. Patients with FMF are at increased risk of secondary amyloidosis, namely type AA. In some Mediterranean populations, the α genotype was associated with the development of renal amyloidosis, a finding not reproduced in other populations.
View Article and Find Full Text PDFEstimating Meaningful Differences in Measures of Neuropathic Impairment, Health-Related Quality of Life, and Nutritional Status in Patients With Hereditary Transthyretin Amyloidosis.
Muscle Nerve
January 2025
Boston University School of Medicine, Boston, Massachusetts, USA.
Article Synopsis
- - The study aimed to identify what changes in neuropathic impairment and quality of life (QoL) are important to patients with hereditary transthyretin amyloidosis and to evaluate if the drug eplontersen provides significant improvements compared to a placebo.
- - Researchers used data from the NEURO-TTRansform trial and various scoring systems to determine thresholds for meaningful differences, finding that eplontersen led to improvements that exceeded these thresholds in neuropathy, QoL, and nutrition measurements.
- - Results showed eplontersen provided significant clinical benefits, suggesting that these findings could influence future clinical practices and trials regarding treatment effectiveness for patients with this condition.
Familial Mediterranean Fever in Childhood.
Turk Arch Pediatr
November 2024
Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa Cerrahpaşa Medical Faculty, İstanbul, Türkiye.
Article Synopsis
Pregnancy occurring in AA amyloidosis: a series of 27 patients including 3 new French cases.
J Nephrol
September 2024
Department of Internal Medicine, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), DMU i3d, AP-HP, Hôpital Tenon, Service de Médecine Interne, Sorbonne University, Tenon Hospital, 75020, Paris, France.
Article Synopsis
- AA amyloidosis (AAA) is a serious multisystem disease stemming from chronic inflammation, commonly affecting the kidneys and posing risks during pregnancy.
- A study reviewed cases of AAA in pregnant women, identifying three new patients and highlighting that familial Mediterranean fever was the leading cause of AAA in this group.
- The research found that pregnancies in AAA patients often led to complications like growth retardation and preterm birth, indicating the need for heightened medical monitoring during pregnancy.
Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study.
Glob Pediatr Health
August 2024
Anatomopathology Department, Ibn Sina University Hospital Center, Faculty of Medicine and Pharmacy, Mohamed V University, Rabat, Morocco.
Article Synopsis
- Familial Mediterranean fever (FMF) is a genetic disorder mainly found in Mediterranean populations, caused by mutations in a specific gene.
- A rare pediatric case involving a phenotype I FMF was diagnosed during chronic kidney disease and included a heterozygous mutation.
- The paper emphasizes the need for early diagnosis of FMF in heterozygous children to prevent severe complications, wrong treatments, and increased healthcare expenses.
Article Synopsis
- - The phase 3 NEURO-TTRansform trial demonstrated that eplontersen significantly reduced transthyretin (TTR) levels and halted the progression of neuropathy impairment in patients with hereditary TTR-mediated amyloidosis after 65 weeks of treatment.
- - The study involved patients initially receiving inotersen, who then switched to eplontersen, resulting in a greater reduction of TTR levels and stabilized quality of life and nutritional status during the eplontersen treatment.
- - Patients who switched to eplontersen experienced fewer treatment-emergent adverse events, restored platelet counts, and overall better tolerability, indicating a favorable benefit-risk profile for this treatment strategy. *
Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations.
Clin Res Hepatol Gastroenterol
October 2024
Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China. Electronic address:
Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv).
J Bras Nefrol
August 2024
Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, Rio de Janeiro, RJ, Brazil.
Article Synopsis
- Hereditary transthyretin amyloidosis (ATTRv) is a serious genetic disease that affects multiple body systems, including the kidneys, leading to possible urinary acidification disorders like renal tubular acidosis (RTA).
- The study aimed to determine how common RTA is among individuals with ATTRv mutations, using a specific urinary acidification test after water deprivation.
- Results showed that 2% had proximal RTA and 16.3% had distal RTA, with a reliable dipstick method to screen for dRTA; more research is needed to understand early diagnosis and treatment benefits.
Hereditary Amyloidosis: Insights Into a Fibrinogen A Variant Protein.
Proteins
December 2024
Facultad de Ciencias Médicas, Departamento de Medicina Interna, Instituto de Investigaciones Bioquímicas de La Plata (INIBIOLP), CONICET, Universidad Nacional de La Plata, Buenos Aires, Argentina.
Article Synopsis
Phenotype and prognostic factors in geriatric and non-geriatric patients with transthyretin cardiomyopathy.
ESC Heart Fail
December 2024
Department of Cardiology, AP-HP (Assistance Publique-Hôpitaux de Paris), DMU Care, Henri Mondor University Hospital, Créteil, France.
Article Synopsis
- The study focuses on transthyretin cardiac amyloidosis (ATTR-CM) as a significant cause of heart failure in older patients, analyzing how age and amyloidosis subtype affect patient outcomes.
- It included 943 patients, revealing that geriatric patients (≥75 years) had worse health outcomes and lower 3-year survival rates (55%) compared to non-geriatric patients (<75 years) who had a survival rate of 76%.
- Key mortality predictors differed by age group, with geriatric patients relying on alkaline phosphatase and troponin T levels, while non-geriatric patients linked outcomes to NT-proBNP and glomerular filtration rates; a new 3-stage prognostic
Could tocilizumab be used in familial Mediterranean Fever? A systematic review.
Rheumatology (Oxford)
July 2024
Sorbonne Université, Service de médecine interne, DMU 3ID, FHU PACEMM, Hôpital Tenon, université, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020, France, Paris.
Article Synopsis
- Familial Mediterranean fever (FMF) is a common autoinflammatory disease treated primarily with colchicine, but approximately 10% of patients do not respond, leading to the exploration of alternative therapies like IL-1β and IL-6 inhibitors, such as tocilizumab (TCZ).
- This study aimed to assess the efficacy and safety of TCZ in treating FMF, reviewing 237 articles and ultimately focusing on 14 relevant studies.
- Results indicate mixed efficacy in non-AA amyloidosis FMF patients, while TCZ may help those with established AA amyloidosis; it showed a safe profile, but data on its use in pregnancy, breastfeeding, and pediatric cases is insufficient.
Defining echocardiographic predictors of outcome in cardiac amyloidosis by subtype.
Curr Probl Cardiol
September 2024
University of Chicago, Department of Medicine, Section of Cardiology, Chicago, IL, USA. Electronic address:
Article Synopsis
- Current echocardiographic risk factors in cardiac amyloidosis (CA) do not differentiate well between its main subtypes, transthyretin cardiomyopathy (TTR) and immunoglobulin light chain cardiomyopathy (AL), which need different approaches for diagnosis and treatment.! -
- The study analyzed 220 CA patients using various echocardiographic measures to identify predictors of survival, focusing on differences between the AL and TTR subtypes while controlling for factors like age and treatment.! -
- Findings revealed specific echocardiographic parameters associated with survival: RV function measures were significant for AL, while TTR survival was linked to left ventricular measures, highlighting the need for subtype-specific clinical decision-making.*
Inverse correlation between age of onset and myocardial amyloid deposition quantified by Tc-PYP scintigraphy in patients with wild-type transthyretin amyloid cardiomyopathy.
Ann Nucl Med
September 2024
Department of Diagnostic Radiology, Graduate School of Life Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-Ku, Kumamoto, 860-8556, Japan.
Article Synopsis
- The study investigates factors impacting the age of onset of wild-type transthyretin amyloidosis cardiomyopathy (ATTRwt-CM) in the elderly, focusing on amyloid deposition in heart tissue using Tc-pyrophosphate (PYP) imaging and clinical data.
- A cohort of 107 diagnosed ATTRwt-CM patients underwent PYP scintigraphy, and statistical analyses identified significant predictors for age of onset, notably the heart-to-contralateral (H/CL) ratio, hemoglobin (Hb), and creatinine (Cr) levels.
- Results indicate that the H/CL ratio has an inverse relationship with age of onset, suggesting it could influence heart failure development, especially in patients with anemia and kidney issues.
Predictors of developing renal dysfunction following diagnosis of transthyretin cardiac amyloidosis.
Clin Cardiol
June 2024
Department of Cardiovascular Disease, Heart, Vascular, and Thoracic Institute, Cleveland Clinic Florida, Weston, Florida, USA.
Article Synopsis
- This study examines the risk factors for worsening renal function (wRF) in patients with transthyretin cardiac amyloidosis (ATTR-CA), which is linked to poor outcomes.
- Out of 134 patients studied, 41.8% experienced wRF within the first year, with significant predictors being a higher New York Heart Association (NYHA) class, a lack of prior ischemic heart disease, and not being on SGLT-2 inhibitors.
- The findings highlight that renal dysfunction is a common issue after ATTR-CA diagnosis, indicating that certain patient characteristics can help forecast who is at greater risk for developing wRF.
SGLT2 Inhibitor Therapy in Patients With Transthyretin Amyloid Cardiomyopathy.
J Am Coll Cardiol
June 2024
National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London, United Kingdom. Electronic address:
Article Synopsis
- This study analyzed the effectiveness and tolerability of SGLT2 inhibitors in patients with transthyretin cardiomyopathy (ATTR-CM), a condition previously excluded from related clinical trials.
- Out of 2,356 ATTR-CM patients, 260 received SGLT2 inhibitors, and after matching for certain variables, it was found that SGLT2i treatment led to less deterioration in heart failure symptoms and better kidney function over time.
- The findings suggest that SGLT2i treatment not only had a low discontinuation rate but also significantly reduced the risks of all-cause mortality, cardiovascular mortality, and heart failure hospitalizations in these patients.
Late initiation of anakinra can induce complete renal response in renal AA amyloidosis secondary to Familial Mediterranean Fever.
J Nephrol
May 2024
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
bDMARD can prevent the progression of AA amyloidosis to end-stage renal disease.
Ann Rheum Dis
August 2024
Department of Hematology, Oncology, and Rheumatology, Heidelberg University Hospital, Heidelberg, Germany
Article Synopsis
- AA amyloidosis (AA) is often caused by chronic inflammatory diseases, which can lead to serious kidney problems, including end-stage renal disease (ESRD).
- A study analyzed 83 patients with different types of AA who were treated with cytokine-inhibiting bDMARDs, showing significant reductions in inflammation and protein levels.
- The treatment prevented progression to ESRD in a large percentage of patients, with tocilizumab proving especially effective compared to other bDMARDs, enhancing both kidney function and overall survival.
Sodium-glucose cotransporter 2 inhibitors for transthyretin amyloid cardiomyopathy: Analyses of short-term efficacy and safety.
Eur J Heart Fail
April 2024
Clinical Cardiovascular Research Laboratory for the Elderly (CCRLE), New York-Presbyterian/Columbia University Irving Medical Center, New York, NY, USA.
Article Synopsis
- A retrospective study evaluated the short-term effectiveness and safety of sodium-glucose cotransporter 2 inhibitors (SGLT2i) in patients with transthyretin amyloid cardiomyopathy (ATTR-CM), as previous randomized trials had excluded these individuals.
- The study involved 87 ATTR-CM patients on SGLT2i and 95 untreated control patients, measuring changes in weight, diuretic dosage, and cardiac/renal biomarkers.
- SGLT2i treatment significantly improved weight and diuretic use, with most patients tolerating the treatment well, although 11.5% discontinued it due to side effects; further randomized trials are needed for validation.
Hereditary Transthyretin Amyloidosis and the Impact of Classic and New Treatments on Kidney Function: A Review.
Am J Kidney Dis
August 2024
Department of Medicine, La Salle University, Mexico City, Mexico. Electronic address:
Article Synopsis
- * Not all mutations of the TTR gene impact kidney health similarly, making it challenging to determine kidney involvement in ATTRv.
- * Treatment options for ATTRv include orthotopic liver transplant (OLT) and newer drugs like tafamidis and patisiran that stabilize TTR, though some treatments may risk further kidney damage.
Predicting genetic risk factors for AA amyloidosis in Algerian patients with familial Mediterranean fever.
Mol Genet Genomics
March 2024
Faculty of Medecine, Benyoucef Benkheda Algiers 1 University, Algiers, Algeria.
Article Synopsis
- Renal AA amyloidosis is a serious complication that can arise in patients with familial Mediterranean fever (FMF) due to specific genetic variations in the SAA1 and MEFV genes.
- A study in Algeria involved genotyping FMF patients (60 in total, 39 with amyloidosis and 21 without) and 60 healthy controls to assess the link between SAA1 variants and amyloidosis.
- Results indicated that the SAA1.1/1.1 genotype is significantly more common in amyloid patients, while SAA1.1/1.5 offers some protection against developing the condition, suggesting certain genetic profiles increase the risk of renal complications in this population.
The landscape of nanoparticle-based siRNA delivery and therapeutic development.
Mol Ther
February 2024
School of Life Science, Advanced Research Institute of Multidisciplinary Science, School of Medical Technology, Key Laboratory of Molecular Medicine and Biotherapy, Key Laboratory of Medical Molecule Science and Pharmaceutics Engineering, Beijing Institute of Technology, Beijing 100081, China; Rigerna Therapeutics Co. Ltd., Suzhou 215127, China. Electronic address:
Article Synopsis
- Five siRNA-based therapies have been FDA-approved, including patisiran and givosiran, but delivering siRNA safely and effectively remains challenging.
- Naked siRNA faces issues like poor membrane permeability and quick degradation, leading researchers to modify siRNA and explore better delivery systems.
- Nanoparticles, specifically lipid-based ones, show potential for effective siRNA delivery with reduced toxicity and off-target effects, and ongoing clinical trials are investigating these therapies further.
Unraveling the genome: Familial Mediterranean fever.
J Am Assoc Nurse Pract
January 2024
Kiran G. Zaveri, MD LLC, Metairie, Louisiana.
Article Synopsis
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder prevalent mainly in Middle Eastern and Mediterranean populations, caused by defects in innate immunity and characterized by recurrent fever and inflammation-related pain.
- While typically inherited in an autosomal recessive manner, there are cases linked to single mutations or dominant transmission, with 9-11 variants of the MEFV gene primarily responsible for the disease's symptoms.
- Diagnosis is based on clinical criteria and genetic testing, with treatment focusing on colchicine to prevent attacks and complications like renal dysfunction; genetic testing aids in personalized treatment plans and monitoring for related health issues.
Renal tubular and glomerular estrogen receptor ß levels are lower in lupus nephritis than in familial Mediterranean fever-associated renal amyloidosis.
Lupus
November 2023
Department of Rheumatology, Faculty of Medicine Ankara City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Turkey.
Article Synopsis
- Estrogen plays a critical role in systemic lupus erythematosus, which primarily affects females, and this study investigates how estrogen receptors are involved in various kidney diseases, including lupus nephritis and familial Mediterranean fever.
- The study analyzed 66 patients with different conditions, finding that tubular estrogen receptor ß expression was significantly higher in familial Mediterranean fever patients compared to those with lupus nephritis and ANCA-associated nephritis.
- Results indicated a strong correlation between tubular estrogen receptor ß expression and kidney function, as measured by serum creatinine levels, and highlighted potential links between estrogen receptors and disease pathology in different types of kidney disorders.