Abstract：
:The Human Genome Project is rapidly producing insights into the molecular basis of human genetic disorders. The most immediate clinical benefit is the advent of new diagnostic methods. Molecular diagnostic tools are available for several genetic renal disorders and are in development for many more. Two general approaches to molecular diagnosis are linkage-based testing and direct mutation detection. The former is used when the gene has not been cloned but has been mapped in relation to polymorphic loci. Linkage-based testing is also helpful when a large diversity of mutations makes direct detection difficult. Limitations include the need to study multiple family members, the need for informative polymorphisms, and genetic heterogeneity. Direct mutation detection is limited by genetic heterogeneity and the need to distinguish nonpathogenic allelic variants from pathogenic mutations. Molecular testing raises a number of complex ethical issues, including those associated with prenatal or presymptomatic diagnosis. In addition, there are concerns about informed consent, privacy, genetic discrimination, and technology transfer for newly developed tests. Health professionals need to be aware of the technical and ethical implications of these new methods of testing, as well as the complexities in test interpretation, as molecular approaches are increasingly integrated into medical practice.
journal_name
Semin Nephroljournal_title
Seminars in nephrologyauthors
Korf BRsubject
Has Abstractpub_date
1999-07-01 00:00:00pages
319-26issue
4eissn
0270-9295issn
1558-4488journal_volume
19pub_type
杂志文章,评审abstract：:Compared with Caucasians, African Americans have lower circulating concentrations of 25-hydroxyvitamin D (25(OH)D), the major storage form of vitamin D, leading to the widespread assumption that African Americans are at higher risk of vitamin D deficiency. However, the finding that African Americans maintain better in...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2013.07.006
更新日期：2013-09-01 00:00:00
abstract：:Cell-based therapy, designed to promote angiogenesis and improve organ function, has been under investigation for the treatment of ischemic heart disease for more than 10 years. Although believed to work primarily by repairing the microvasculature, this form of therapy has not been examined in the setting of chronic k...
journal_title：Seminars in nephrology
pub_type： 杂志文章
doi：10.1016/j.semnephrol.2012.07.012
更新日期：2012-09-01 00:00:00
abstract：:IgA nephropathy (IgAN), a common primary glomerulonephritis worldwide, is associated with a substantial risk of progression to end-stage renal failure. The disease runs a highly variable clinical course with frequent involvement of tubulointerstitial damage. A subgroup of IgAN with proximal tubular epithelial cells (P...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2018.05.018
更新日期：2018-09-01 00:00:00
abstract：:Diagnosis of aluminum-related bone disease in patients with renal failure often requires a bone biopsy. Percutaneous biopsy of the iliac crest has been safely carried out as an outpatient procedure in over 300 patients. No instances of significant bleeding or infection have occurred. The procedure was well accepted in...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1986-12-01 00:00:00
abstract：:Effectiveness of antihypertensive agents is assessed not only by systemic blood pressure levels, but by multiple parameters that reflect specific organ functions. Among antihypertensive agents, those which inhibit angiotensin actions show particular efficacy in ameliorating end organ damage. This efficacy likely refle...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1996-11-01 00:00:00
abstract：:Nephritic edema results from the primary retention of salt. Acute glomerulonephritis is the prototypical form of the disorder. The stimulus for the salt retention arises within the kidney by an unknown mechanism. As effective arterial blood volume (EABV) was normal at the start of the disease process, it becomes expan...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2001.21653
更新日期：2001-05-01 00:00:00
abstract：:This review emphasizes four major areas of pediatric hypertension. Because hypertension is the most common reason student athletes fail the sports pre-participation examinations, we have attempted to provide a rationale approach to the decision process to permit a hypertensive child to partake in leisure and competiti...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1998-05-01 00:00:00
abstract：:Hypertension is growing in prevalence and most of this growth represents isolated systolic hypertension in the elderly. Attempts at prevention are critical but likely are ineffectual. Therefore, the delivery and acceptance of current medical regimens must be improved. ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2005.02.002
更新日期：2005-07-01 00:00:00
abstract：:Preeclampsia is a 2-stage disorder. Stage 1 is decreased placental perfusion and generates stage 2 of the disorder, the maternal syndrome characteristic of preeclampsia. How the 2 stages are linked has been a topic of intense investigation for many years. One candidate phenomenon, which includes many other suggested l...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/s0270-9295(04)00126-3
更新日期：2004-11-01 00:00:00
abstract：:The progressive decline of glomerular filtration rate in chronic kidney disease patients is associated with a significant reduction in food intake. Approximately one third of chronic dialysis patients complain of a fair or poor appetite and this is related directly to poor patient outcomes. Appetite regulation involve...
journal_title：Seminars in nephrology
pub_type： 杂志文章
doi：10.1016/j.semnephrol.2008.10.003
更新日期：2009-01-01 00:00:00
abstract：:Membranous nephropathy remains the most common cause of the nephrotic syndrome in adults. Most patients do well with long-term natural history studies reporting a 10-year renal survival of 70% to 90% but the remainder progress to end stage renal failure. This plus the associated morbidity of those with persistent high...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：2000-05-01 00:00:00
abstract：:During the past decade, the safety and efficacy of long-term treatment with recombinant human growth hormone (rhGH) in children with chronic renal failure before and after renal transplantation has been established. This article reviews the increasing evidence that rhGH treatment also results in a significant improvem...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2001.24944
更新日期：2001-09-01 00:00:00
abstract：:The vacuolar H(+)-ATPase is a multisubunit protein consisting of a peripheral catalytic domain (V(1)) that binds and hydrolyzes adenosine triphosphate (ATP) and provides energy to pump H(+) through the transmembrane domain (V(0)) against a large gradient. This proton-translocating vacuolar H(+)-ATPase is present in bo...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2006.07.004
更新日期：2006-09-01 00:00:00
abstract：:To characterize current evidence and current foci of perioperative clinical trials, we systematically reviewed Medline and identified perioperative trials involving 100 or more adult patients undergoing surgery and reporting renal end points that were published in high-impact journals since 2004. We categorized the 10...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2020.01.008
更新日期：2020-03-01 00:00:00
abstract：:Amiloride is a prototypic inhibitor of epithelial sodium channels. Rapid progress has been made in our understanding of the structure of the sodium channel and related cation-selective channels. This work, coupled with experiments examining how selected sodium channel mutations affect amiloride binding, provides criti...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1999-11-01 00:00:00
abstract：:The Kidney Early Evaluation Program (KEEP) is a free, community-based, kidney disease screening program designed to detect chronic kidney disease (CKD) early and promote follow-up evaluation with clinicians to ultimately improve outcomes. This program screens individuals with diabetes, hypertension, or those with a fi...
journal_title：Seminars in nephrology
pub_type： 杂志文章
doi：10.1016/j.semnephrol.2009.10.004
更新日期：2010-01-01 00:00:00
abstract：:The rapid understanding of the cellular and molecular basis of organ function and disease processes will be translated in the next millennium into new therapeutic approaches to a wide range of clinical disorders, including acute and chronic renal failure. Central to these new therapies are the developing fields of gen...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：2000-01-01 00:00:00
abstract：:The antiphospholipid syndrome (APS) is a systemic autoimmune disorder characterized by a combination of arterial and/or venous thrombosis, pregnancy morbidity, and the persistent presence of circulating antiphospholipid antibodies (aPL). APS has been described as primary APS when it occurs in the absence of any featur...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2015.08.009
更新日期：2015-09-01 00:00:00
abstract：:In patients with chronic kidney disease, an impaired capacity of the kidney to excrete sodium is a major contributor to hypertension. We discuss the role of sodium restriction and diuretic therapy for resistant hypertension in chronic kidney disease. Independent of increasing blood pressure, a sustained high sodium in...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2014.08.005
更新日期：2014-01-01 00:00:00
abstract：:Effective monitoring of chronic hemodialysis patients treated with recombinant human erythropoietin (r-HuEPO; EPOGEN [epoetin alfa], AMGEN Inc, Thousand Oaks, CA) includes an initial evaluation of the patient, the patient's anemia, and the patient's iron stores. Assessment of iron stores includes obtaining hematocrit ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1989-03-01 00:00:00
abstract：:Human immunodeficiency virus (HIV)-associated nephropathy (HIVAN), the single most common cause of end-stage renal failure in seropositive patients, has increased in incidence by 30% each year since 1991. Occurring almost exclusively in blacks, HIVAN became the third leading cause of ESRD in blacks, ages 20 to 64, in ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1998-07-01 00:00:00
abstract：:Necrosis is the predominant form of regulated cell death in acute kidney injury (AKI) and represents results in the formation of casts that appear in the urine sedimentation, referred to as muddy brown casts, which are part of the diagnosis of AKI. Pathologists referred to this typical feature as acute tubular necrosi...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2016.03.002
更新日期：2016-05-01 00:00:00
abstract：:The complement system consists of 3 pathways and more than 30 proteins, including those with biological activity that directly or indirectly mediate the effects of this system, plus a set of regulatory proteins necessary to prevent injudicious complement activation on host tissue. The role for complement in the pathog...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2006.09.009
更新日期：2007-01-01 00:00:00
abstract：:Dent's disease and familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) are inherited diseases in which hypercalciuria, nephrocalcinosis, and renal failure are prominent features. Dent's disease resembles a Fanconi syndrome, with impaired reabsorption in the proximal tubule; FHHNC, with urinary los...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/j.semnephrol.2003.08.011
更新日期：2004-01-01 00:00:00
abstract：:The incidence of progressive kidney disease associated with diabetes continues to increase worldwide. Only partial renoprotection is achieved by current standard therapy with angiotensin-converting enzyme inhibitors and/or angiotensin-receptor blockers, increasing the need for novel therapeutic approaches. Experimenta...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2015.03.003
更新日期：2015-03-01 00:00:00
abstract：:In humans, idiopathic hypercalciuria is associated with stone formation. To study the mechanisms that are responsible for the excess urine calcium excretion in ways that are difficult to impossible in humans, we have developed a rat model of idiopathic hypercalciuria. Hypercalciuric rats were successively inbred for m...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1996-09-01 00:00:00
abstract：:Initially described in 1984, human immunodeficiency virus-associated nephropathy (HIVAN) has now become a common disease within the HIV-seropositive population. It is a focal segmental glomerulosclerosis causing rapid deterioration of renal function. It is the most common cause of chronic renal disease in HIV patients...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2003.50018
更新日期：2003-03-01 00:00:00
abstract：:The mortality of end-stage renal disease (ESRD) patients, including those receiving long-term peritoneal dialysis (PD), has remained unacceptably high owing to the prevalence of cardiovascular disease. It is well recognized that both traditional Framingham risk factors and kidney disease-related risk factors may contr...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2011.01.005
更新日期：2011-03-01 00:00:00
abstract：:Assessment of adiposity should include measurements of both body mass index and waist circumference. The prevalence of obesity, based on a body mass index of 30 kg/m(2) or greater, has increased substantially over the past 2 decades in Western societies. Obesity remains the number one preventable risk factor for chron...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2012.12.006
更新日期：2013-01-01 00:00:00
abstract：:A review is presented of 164 nephrotic patients who were older than 60 years at the onset of their nephrotic syndrome, together with a review of more than 1,000 patients from the literature. The nephrotic syndrome in elderly patients is as common as in younger adults, but is often misdiagnosed as "heart failure" by pr...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1996-07-01 00:00:00
