Abstract:
:The expansion of genomic medicine is furthering our understanding of many human diseases. This is well illustrated in the field of nephrology, through the characterization, discovery, and growing insight into various renal diseases through use of Next Generation Sequencing (NGS) technologies. This review will provide an overview of the diagnostic opportunities of using genetic testing in the clinical setting by describing notable discoveries regarding inherited forms of renal disease that have advanced the field and by highlighting some of the potential benefits of establishing a molecular diagnosis in a clinical practice. In addition, it will discuss some of the challenges associated with the expansion of genetic testing into the clinical setting, including clinical variant interpretation and return of genetic results.
journal_name
J Nephroljournal_title
Journal of nephrologyauthors
Nestor JG,Groopman EE,Gharavi AGdoi
10.1007/s40620-017-0448-0subject
Has Abstractpub_date
2018-02-01 00:00:00pages
47-60issue
1eissn
1121-8428issn
1724-6059pii
10.1007/s40620-017-0448-0journal_volume
31pub_type
杂志文章,评审abstract::Diabetic nephropathy (DN) is a common complication of Diabetes Mellitus (DM) Types 1 and 2, and prevention of end stage renal disease (ESRD) remains a major challenge. Despite its high prevalence, the pathogenesis of DN is still controversial. Initial glomerular disease manifested by hyperfiltration and loss of glomer...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-017-0423-9
更新日期:2017-12-01 00:00:00
abstract::Calciphylaxis, or calcific uremic arteriolopathy, is a vascular ossification-calcification disease involving cutaneous or visceral arterioles, with ischemic damage of the surrounding tissues, usually in the setting of chronic kidney disease. Pathogenesis is still unclear and probably comprises the participation of vas...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-015-0192-2
更新日期:2015-10-01 00:00:00
abstract::Some antihypertensive drugs may have a renoprotective effect, that is partially independent of their ability to reduce blood pressure. ACE-inhibitors are safe and effective agents that are capable of reducing proteinuria and preventing CRF progression. The results of the AIPRI extension study suggest that they may als...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:1998-11-01 00:00:00
abstract::Bisphosphonates inhibit bone resorption and are widely used to treat osteolytic metastases and osteoporosis. Renal osteodystrophy patients have continuous bone loss due to chronically elevated parathyroid hormone (PTH). In this open-label study, ibandronate was evaluated for the treatment of reduced bone density in re...
journal_title:Journal of nephrology
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2008-07-01 00:00:00
abstract:BACKGROUND:Rituximab (RTX) is approved for remission induction in ANCA associated vasculitis (AAV). However, data on use of RTX in patients with severe renal disease is lacking. METHODS:We conducted a retrospective multi-center study to evaluate the efficacy and safety of RTX with glucocorticoids (GC) with and without...
journal_title:Journal of nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s40620-015-0208-y
更新日期:2016-04-01 00:00:00
abstract::We report the first documented case of X-linked chronic granulomatous disease (CGD) in association with IgA nephropathy in a 22 year old male with multiple soft tissue abscesses. The case highlights the potential role of staphylococcal infections in the pathogenesis of IgA nephropathy and suggests the hypothesis that ...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2002-11-01 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::Modern nephrology developed in Poland mostly from the internal medicine department chaired in Warsaw by the great internist prof. Witold Orłowski (1874-1966). Three of his pupils Tadeusz Orłowski, Jan Roguski and Jakub Penson independently established the foundations of clinical nephrology and renal replacement therap...
journal_title:Journal of nephrology
pub_type: 历史文章,杂志文章
doi:
更新日期:2006-05-01 00:00:00
abstract::The attitude of 19th century (and even of 20th century) scholars toward medieval and, particularly, Anglo-Saxon medicine has been of severe criticism. According to them it was filled with superstition and stupidities. However, in these last fifty years research has proved that, compared with the Continent, Anglo-Saxon...
journal_title:Journal of nephrology
pub_type: 历史文章,杂志文章
doi:
更新日期:2009-11-01 00:00:00
abstract:BACKGROUND AND AIMS:Reduction of intestinal load of phosphorus is important for the prevention and treatment of chronic kidney disease (CKD)-mineral and bone disorder (MBD). However, this strategy is limited by patients' poor adherence to dietary prescription and by the existence of hidden sources of phosphorus. In add...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-016-0306-5
更新日期:2016-12-01 00:00:00
abstract::Survival analysis is the statistical method for studying the time between entry to a study and a subsequent event. Survival is often the most important outcome in both observational and intervention studies. The analysis of survival, however, is not simple because of a number of factors. The time between entry to a st...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2004-03-01 00:00:00
abstract::Glomerulonephritis rarely appears associated with Hodgkin's disease or non-Hodgkin's lymphoma (NHL). We present a patient with a relapse of a non-Hodgkin's lymphoma which first presented as nephrotic syndrome due to focal segmental glomerulosclerosis (FSGS). This case report discusses the unusual association of non-Ho...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2007-09-01 00:00:00
abstract::Ambulatory blood pressure monitoring (ABPM) has been developed to overcome recognized deficiencies and inaccuracies of classic (office) BP measurements in the diagnosis and management of hypertension (HTN). Although in adults it has become a valuable tool for the diagnosis and ongoing management of HTN, and its use ha...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2004-09-01 00:00:00
abstract::The role of the kidney in controlling and maintaining plasma potassium levels in the normal range requires the presence and activity of renal potassium channels, and their importance has been highlighted in patients with Bartter syndrome harboring mutations in the ROMK (Kir1.1, KCJN1) channel and hyperkalemia. However...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2010-01-01 00:00:00
abstract:AIMS:Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of pain management. There are no detailed data on NSAIDs use in Poland, especially in patients with chronic kidney disease (CKD). The aim of this study was to evaluate the frequency, circumstances, and causes of NSAIDs use as well as knowledge of th...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-016-0352-z
更新日期:2017-12-01 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::One of the major concerns in organ transplantation is the early detection of humoral rejection, through improved diagnostic and prognostic biomarkers. Long-term survival of renal allografts is significantly lower in recipients developing donor-specific anti-HLA antibodies (DSAs) either pretransplant or posttransplant....
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/jn.5000240
更新日期:2013-03-01 00:00:00
abstract:AIMS:This joint document of the Italian Diabetes Society and the Italian Society of Nephrology reviews the natural history of diabetic kidney disease (DKD) in the light of the recent epidemiological literature and provides updated recommendations on anti-hyperglycemic treatment with non-insulin agents. DATA SYNTHESIS:...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-019-00650-x
更新日期:2020-02-01 00:00:00
abstract:UNLABELLED:The prognosis of renal survival in both type 1 and type 2 diabetes mellitus is not benign. Several factors characterize the increase in the risk of developing renal damage in diabetic patients, distinguished in diabetes-related factors, genetic factors and other factors. DIAGNOSIS:Diagnosis requires standar...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2003-07-01 00:00:00
abstract::Thales was born into a noble family of Phoenician origin at the time of the 25th Olympiad (floruit 585 bc; he was 40 in the year of the solar eclipse. He had no teachers but had occasion to learn from Egyptian priests. He developed into a scholar and politician very much appreciated by Heraclitus, Herodotus and Democr...
journal_title:Journal of nephrology
pub_type: 传,历史文章,杂志文章
doi:
更新日期:2009-11-01 00:00:00
abstract::A definite epidemiological association exists between kidney stone disease and arterial hypertension, but the pathophysiological mechanisms are still not fully understood. Hypercalciuria or inflammation and oxidative stress have been proposed as possible links. However, there is more convincing evidence that the assoc...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-014-0068-x
更新日期:2014-10-01 00:00:00
abstract::The metabolic syndrome is a cluster of cardiometabolic alterations at least partly dependent on reduced insulin sensitivity and hyperinsulinemia that can have several renal implications. A systematic review and meta-analysis of studies available in the international literature in English language demonstrates that the...
journal_title:Journal of nephrology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s40620-014-0085-9
更新日期:2014-08-01 00:00:00
abstract:INTRODUCTION:Several studies have suggested an effect of calcineurin inhibitors on arterial compliance in kidney transplant recipients. We aimed to investigate whether the type of calcineurin inhibitor influences large and small artery compliance in these patients independently of other determinants. METHODS:Patients ...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2008-01-01 00:00:00
abstract::Autosomal recessive and autosomal dominant polycystic kidney disease (ADPKD and ARPKD) are 2 major variants of inherited diseases leading to the cystic degeneration of the kidney and other organs. Primary cilia have moved into the focus of research as it is becoming increasingly clear that dysfunction of this special ...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2008-01-01 00:00:00
abstract::Marcello Malpighi was born in Crevalcore on March 10, 1628 and died in Rome on July 25, 1694. In Bologna he had among his opponents Giovanni Gerolamo Sbaraglia and Paoli Mini who prevented him being appointed to the chair of anatomy. This paper describes the reasons for this long term debate. ...
journal_title:Journal of nephrology
pub_type: 传,历史文章,杂志文章
doi:
更新日期:2004-07-01 00:00:00
abstract:BACKGROUND:Numerous data support the possible role of myeloblastin/proteinase 3 (PR3) in growth and differentiation of neutrophil granulocytes and certain monocyte subtypes. However, whether PR3 is expressed in non-myeloid cells remains a matter of debate even though recent studies clearly demonstrated its expression i...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:Patients (pts) with primary Membranous nephropathy (MN) have an autoimmune disease caused by autoantibodies against podocyte antigens and 60-80% of them have antibodies directed against the M-type phospholipase A2 receptor (PLA2R). Immunosuppressive treatment is recommended in high-medium risk pts. Recently ...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-020-00781-6
更新日期:2020-06-27 00:00:00
abstract::The term thin glomerular basement membrane disease (TBMD) refers to a condition characterised by thinning of the GBM at electron microscopy examination and, clinically, by isolated hematuria, frequently occurring in other family members, with no extra-renal manifestations. Progression towards chronic renal failure (CR...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2000-01-01 00:00:00
abstract:BACKGROUND:The G-1082A polymorphism of the interleukin-10 (IL-10) gene has been associated with modified gene expression and the progression of primary IgA nephropathy (IgAN). In the present study, we evaluated its influence on recurrent IgAN after renal transplantation. METHODS:We studied 103 patients who suffered fr...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2008-11-01 00:00:00
abstract::Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer ...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-016-0370-x
更新日期:2017-06-01 00:00:00