Abstract:
:Hereditary systemic amyloidosis is caused by deposition of genetically variant proteins as amyloid fibrils. The types that present with renal disease are usually associated with mutations in the genes for either apolipoprotein AI, apolipoprotein AII, lysozyme or fibrinogen A alpha-chain. These diseases are inherited in an autosomal dominant manner with variable penetrance, and can present clinically at any time from the teen years to old age, though usually in mid-adult life. Hereditary amyloidosis is uncommon, but its precise characterization has major implications for patient management and genetic counseling, and it has been an extremely valuable model for elucidating the pathogenesis of amyloid deposition generally. The amyloidogenic variant proteins associated with hereditary amyloidosis are less stable than their normal wild type counterparts and even under physiological conditions can populate partly unfolded states, involving loss of tertiary or higher order structure, which readily aggregate with retention of beta-sheet secondary structure into protofilaments and fibrils. The clinical phenotype of hereditary renal amyloid is non-specific and is readily misdiagnosed as acquired AL amyloidosis. Indeed, we have lately demonstrated that five percent of patients with apparent sporadic amyloid have hereditary fibrinogen A alpha-chain amyloidosis associated with the valine 526 variant. Penetrance of this particular mutation is extremely low in most families obscuring the genetic etiology, but the renal histology is very characteristic showing substantial accumulation of amyloid within enlarged glomeruli, but none in blood vessels or the interstitium. DNA analysis is now performed routinely in UK National Amyloidosis Centre in patients with systemic amyloidosis in whom AA or AL fibril type cannot be definitively verified.
journal_name
J Nephroljournal_title
Journal of nephrologyauthors
Hawkins PNsubject
Has Abstractpub_date
2003-05-01 00:00:00pages
443-8issue
3eissn
1121-8428issn
1724-6059journal_volume
16pub_type
杂志文章,评审abstract:BACKGROUND:Rural-dwelling hemodialysis patients have less frequent contact with nephrologists than urban-dwelling patients, and are known to have higher mortality. We hypothesized that rural-dwelling hemodialysis patients would have more evidence of poorly controlled extracellular fluid volume (ECVF) than otherwise sim...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-016-0337-y
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:The endogenous inhibitor of nitric oxide synthase (NOS), asymmetric dimethylarginine (ADMA), is implicated in endothelial dysfunction and is a marker of renal disease progression and cardiovascular (CV) complications. Various cell species exhibit the enzymatic system that generates and degrades this methylar...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2007-09-01 00:00:00
abstract:BACKGROUND:The prominent features of autosomal dominant polycystic kidney disease (ADPKD) are early development of hypertension, chronic kidney disease and cardiovascular problems. Thus, we aimed to investigate the role of endothelin, a vascular biomarker, in the clinical course of ADPKD, including renal and cardiovasc...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-018-0514-2
更新日期:2019-02-01 00:00:00
abstract:BACKGROUND:Cardiac surgery-associated acute kidney injury (CSA-AKI) is associated with high risk for complications and mortality. Whether renin-angiotensin system (RAS) inhibitor should be continued or withdrawn in patients with long-term use before cardiac surgery has been lack of consensus. METHODS:We performed this...
journal_title:Journal of nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s40620-019-00657-4
更新日期:2019-12-01 00:00:00
abstract::The goal of palliative care is to achieve good quality of life for patients with chronic life-limiting illnesses, and their families, through assessment and management of physical, psychosocial and spiritual problems and needs. Patients with kidney diseases present a particular target of such care from the time of dia...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2008-03-01 00:00:00
abstract:BACKGROUND:In biopsy-proven idiopathic nephrotic syndrome (INS), immunoglobulin M (IgM) and C1q are occasionally deposited in the mesangium. In pediatric nephrology, the significance of mesangial IgM or C1q deposits is controversial, based on previous reports. The aim of this study was to explore the clinical significa...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.5301/jn.5000133
更新日期:2013-03-01 00:00:00
abstract::Despite substantial progress in dialysis patients' management, cardiovascular disease remains the major cause of death. Nearly half of deaths on dialysis are secondary to myocardial infarction, cardiac arrest, malignant arrhythmias and other cardiac causes. The high prevalence of diabetes, anemia, hyperparathyroidism ...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2009-11-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) may present with a variety of extrarenal manifestations. Only 1 case of spontaneous coronary artery dissection has been reported so far in ADPKD. Here we report a case of coronary artery dissection occurring in a 38-year-old woman with ADPKD and an unremarkable medi...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2009-05-01 00:00:00
abstract::Emphysematous pyelonephritis is a rare life-threatening infection of the renal parenchyma. It usually affects unilateral kidney and occurs mostly in diabetic patients. It is characterized by the presence of gas within the renal parenchyma and requires prompt diagnosis and early aggressive therapy. Bilateral emphysemat...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00
abstract:BACKGROUND:IgA nephropathy is one of the most common primary glomerulonephritides, and the clinical course of almost 40% of the patients progresses to end-stage renal disease (ESRD) within 20 years. Angiotensin-converting enzyme (ACE) inhibitors and/ or angiotensin II receptor blockers (ARBs) induce a marked renoprotec...
journal_title:Journal of nephrology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:
更新日期:2009-03-01 00:00:00
abstract::The widely differing functions of vitamin D are based both on a wide diffusion of its specific receptor (VDR) and on the ability of many cells, in addition to renal tubular cells, to synthesize calcitriol for autocrine and paracrine functions. In the last few years, many published studies have added new insights into ...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/JN.2011.7767
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:The regulation of renal hemodynamics is closely related to the L-arginine (L-Arg)/nitric oxide (NO) pathway. NO - metabolized from L-Arg - is capable of improving renal function in ischemic and toxic acute renal failure (ARF), while NO synthase (NOS) inhibition induces deterioration in renal function. The mo...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2005-07-01 00:00:00
abstract::The kidney maintains systemic acid-base homeostasis through proximal tubular reclamation of filtered bicarbonate, and excretion of the daily mineral acid load by collecting duct type A intercalated cells. Impairment of either process produces renal tubular acidosis (RTA). This article will provide an overview of famil...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:The therapeutic effects of immunosuppressive agents such as cyclosporin A, mycophenolate mofetil, rituximab and sirolimus on primary focal segmental glomerulosclerosis (FSGS) remain controversial. The present study was intended to review and analyze the treatment results of immunosuppressive agents for prima...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/jn.5000092
更新日期:2012-09-01 00:00:00
abstract:BACKGROUND:Removal of anti-glomerular basement membrane (anti-GBM) antibody by extracorporeal treatment including plasmapheresis or immunoadsorption (IA) has been considered an effective method in the treatment of Goodpasture's syndrome. In this study, we investigated the effect of IA on serum anti-GBM level and evalua...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND:Chronotropic incompetence (CI) is an independent predictor of cardiovascular events and overall mortality. The prevalence and significance of CI in renal transplant patient has not been examined. METHODS:38 non-heart failure renal transplant recipients were recruited for a transthoracic echocardiogram and t...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-014-0091-y
更新日期:2014-08-01 00:00:00
abstract::Structural and functional alterations affecting the aging kidney predispose to an increased risk of acute renal failure (ARF) in the elderly. This is a common problem becoming more relevant because of an increase in life expectancy. The epidemiology of ARF in the elderly is far from being well assessed, because of the...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/jn.5000141
更新日期:2012-01-01 00:00:00
abstract::The pathogenesis of calcium-oxalate (CaOx) renal stones is still debated and a number of issues needs to be clarified. In particular, it is difficult to combine the intraluminal physical-chemical imbalance and fixed particle theory with the evidence that CaOx stones actually form and grow on Randall's plaque in the re...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2004-11-01 00:00:00
abstract::The management of rapidly progressive glomerulonephritis has been transformed over the past thirty years. It has become one of the few forms of glomerulonephritis that can be effectively treated, and today overall renal survival is as high as 70%. Effective management of patients with RPGN requires prompt and accurate...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:1999-07-01 00:00:00
abstract::One of the central functions of the kidney is to excrete low molecular weight, water soluble, plasma, waste products into the urine, whereas macromolecules, the size of albumin and larger, are retained. The flow of the glomerular filtrate is thought to follow an extracellular route, passing through the endothelial fen...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2003-11-01 00:00:00
abstract::Cyclosporine (CsA) is among the most widely used immunosuppressants for preventing graft rejection and autoimmune diseases. However, its clinical use is hampered by its significant nephrotoxicity and effects as a cause of hypertension. The proximal tubular Na+-H+ exchanger (NHE3) is responsible for transcellular reabs...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2010-11-01 00:00:00
abstract::The kidney does not usually present specific lesions in cystic fibrosis (CF), although in recent years renal involvement has been reported, particularly amyloidosis and immune complex glomerulonephritis. IgA nephropathy is rare. We report four cases of IgA nephropathy out of five renal biopsies performed in the last t...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:Cardiovascular (CV) diseases are the main cause of death in maintenance hemodialysis (MHD) patients. Muscle wasting and physical function decline are common in MHD patients, and significantly impair their quality of life. These can result from abnormalities in cardiac function, which can be further worsened ...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-015-0188-y
更新日期:2015-12-01 00:00:00
abstract::The increase in progressive kidney disease, rising numbers of patients with end-stage renal disease, organ shortages for kidney transplants and poor long-term graft survival rates underline the need for better strategies to diagnose, prevent and treat renal disease. Histological analysis, based on renal biopsies and r...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/jn.5000205
更新日期:2012-09-01 00:00:00
abstract::Reduced glomerular filtration rate and albuminuria do not account for the total risk of developing end-stage renal disease (ESRD), suggesting that other factors might be involved in progressive renal function worsening. Among these, cardiovascular disease, even subclinical, could play a role. The role of left ventricu...
journal_title:Journal of nephrology
pub_type: 社论,评审
doi:10.5301/jn.5000114
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Previously we have demonstrated anabolic effects and improved functional status after growth hormone (GH)-therapy in elderly patients in chronic hemodialysis. The aim of this study is to elucidate the effects of GH-therapy on lipid profiles, blood pressure and bone metabolism. METHODS:Twenty patients, mean ...
journal_title:Journal of nephrology
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2003-03-01 00:00:00
abstract::Hepatitis C virus (HCV) infection is now considered a systemic disease due to the occurrence of extra-hepatic manifestations. Among these, the renal involvement is frequent. HCV infection, in fact, is strongly associated with proteinuria and chronic kidney disease (CKD) and negatively affects the prognosis of renal pa...
journal_title:Journal of nephrology
pub_type: 杂志文章,实务指引
doi:10.1007/s40620-018-0523-1
更新日期:2018-10-01 00:00:00
abstract:INTRODUCTION:During potassium (K) depletion, many adaptive responses are likely mediated through a complex network that involves expression of a variety of genes. We identified that the Nrf2 gene was differentially expressed between normal and K-depleted rat kidney. METHODS:To investigate the effect of Nrf2 on colonic...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.5301/JN.2011.8448
更新日期:2012-03-01 00:00:00
abstract::Gonadal dysfunction is a frequent finding in men with chronic kidney disease and with end-stage renal disease. Testosterone deficiency, usually accompanied by elevation of serum gonadotropin concentrations, is present in 26-66% of men with different degrees of renal failure. Uremia-associated hypogonadism is multifact...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/JN.2011.8481
更新日期:2012-01-01 00:00:00
abstract::Urine samples can be readily obtained from patients in everyday clinical practice. Therefore, the availability of urine allows physicians to obtain relevant clinical information in a timely manner. Since the measurement of urinary protein levels is essential in diagnosing and treating a host of diseases, the potential...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-020-00735-y
更新日期:2020-04-23 00:00:00