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 loss of magnesium and calcium, is associated with impaired cation transport in the thick ascending limb of Henle's loop. Gene mapping in families and positional cloning led in both cases to identification of the responsible gene. Dent's disease is associated with mutations that disrupt function of a voltage-gated chloride channel, CLC-5, expressed in subapical endosomes of the proximal tubule and in other nephron segments. Impaired function of this channel disturbs reabsorption of filtered proteins, as well as other transport functions of the proximal tubule, and leads, apparently indirectly, to hypercalciuria and renal failure. FHHNC results from mutations in paracellin-1, a tight-junction protein that appears to be important in conducting or regulating paracellular cation transport. Impaired function of paracellin-1 leads specifically to urinary losses of magnesium and calcium, but because transcellular transport is intact these patients do not have hypokalemia or salt wasting. Identification of both genes represent triumphs of a genetic approach to solving problems of pathophysiology.
journal_name
Semin Nephroljournal_title
Seminars in nephrologyauthors
Knohl SJ,Scheinman SJdoi
10.1053/j.semnephrol.2003.08.011subject
Has Abstractpub_date
2004-01-01 00:00:00pages
55-60issue
1eissn
0270-9295issn
1558-4488pii
S0270929503001402journal_volume
24pub_type
杂志文章,评审abstract：:Traditionally, renal ischemia has been regarded as central to the pathogenesis of sepsis-associated acute kidney injury (SA-AKI). Accordingly, hemodynamic management of SA-AKI has emphasized restoration of renal perfusion, whereas, experimentally, ischemia reperfusion models have been emphasized. However, in human bei...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2015.01.007
更新日期：2015-01-01 00:00:00
abstract：:Sphingolipids, including ceramides, glycosphingolipids, sphingomyelin, and sphingosine-1-phosphate, have been recognized as important molecules that regulate critical cellular functions. Although originally studied in the context of lysosomal storage diseases, the roles of these compounds in more common disorders invo...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2018.01.007
更新日期：2018-03-01 00:00:00
abstract：:Nitric oxide (NO) is a gaseous free radical that serves cell signaling, cellular energetics, host defense, and inflammatory functions in virtually all cells. In the kidney and vasculature, NO plays fundamental roles in the control of systemic and intrarenal hemodynamics, the tubuloglomerular feedback response, pressur...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2004.04.002
更新日期：2004-07-01 00:00:00
abstract：:Cardio-Renal syndrome (CRS) is a common and complex clinical condition in which multiple causative factors are involved. The time window between renal insult and development of acute kidney injury (AKI) in acute heart failure (AHF) can be varied in different patients and AKI often is diagnosed too late, only when the ...
journal_title：Seminars in nephrology
pub_type： 杂志文章
doi：10.1016/j.semnephrol.2011.11.015
更新日期：2012-01-01 00:00:00
abstract：:Mechanisms regulating the establishment of the glomerular endothelium and mesangium during glomerulogenesis are not understood. In this article, we discuss two different blood vessel growth processes: vasculogenesis and angiogenesis, with particular attention on how these processes might operate in the developing kidn...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1995-07-01 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：:In recent years, it has become apparent that parietal epithelial cells (PECs) play an important role within the renal glomerulus, in particular in diseased conditions. In this review, we examine current knowledge about the role of PECs and their interactions with podocytes in development and under physiological condit...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2012.06.007
更新日期：2012-07-01 00:00:00
abstract：:Kidney function declines with age in association with the development of age-associated glomerulosclerosis. The well-established structural and functional changes with age are reviewed briefly. The modification of aging pathology by calorie restriction is discussed. The role of the podocyte as a critical cell in the a...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2009.07.012
更新日期：2009-11-01 00:00:00
abstract：:An important component of nephrology research is the discovery of novel proteins that control cellular and molecular events that contribute to normal kidney cell biology and disease. Identifying perturbation of normal cellular protein expression and interactions within signaling networks is critical for understanding ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2007.09.008
更新日期：2007-11-01 00:00:00
abstract：:The kidney plays a critical role in regulating water homeostasis through specific proteins highly expressed in the kidney, called aquaporins, allowing water permeation at a high rate. This brief review focuses on some nephropathies associated with impaired urinary concentrating ability and in particular analyzes the r...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2008.03.007
更新日期：2008-05-01 00:00:00
abstract：:The evidence indicates an increased prevalence and likely also an increased incidence of both renal and extrarenal malignancy in ESRD patients. With the exception of nonHodgkin's lymphoma, these are the same solid tumors commonly found in the general population. Although the overall change in tumor frequency may be sm...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1993-05-01 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：: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：:The search for an endogenous digitalis has led to the identification of the cardenolides ouabain and digoxin and the bufadienolide marinobufagenin in mammalian tissues and biological fluids. Ouabain's release from adrenal glands is under the control of epinephrine and angiotensin II; hence, its blood concentration cha...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2005.03.010
更新日期：2005-09-01 00:00:00
abstract：:The association between increased uric acid (UA) levels and cardiovascular disease (CVD) has been observed and studied for many decades. The value of UA as an independent factor within the metabolic risk profile for prediction of CVD in the normal population remains an issue of ongoing discussion. In turn, increasing ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2011.08.007
更新日期：2011-09-01 00:00:00
abstract：:Renal involvement is common in leptospirosis. Clinical manifestations vary from urinary sediment changes to acute renal failure. Renal failure is observed in 44% to 67% of patients. Hypokalemia frequently occurs. Severe hypotension is an important warning sign for the later development of renal and pulmonary complicat...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2003.50004
更新日期：2003-01-01 00:00:00
abstract：:Cardiovascular disease (CVD) is the major cause of morbidity and mortality in patients with renal failure. Patients with chronic kidney disease have significant CVD, and carry a high cardiovascular burden by the time they commence renal replacement therapy (RRT). The severity of CVD that has been observed in dialysis ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2002.35964
更新日期：2002-11-01 00:00:00
abstract：:Given the prohibitive costs of end-stage renal disease (ESRD) care for certain countries and the increasing incidence of ESRD worldwide, alternative methods of funding dialysis care are increasingly necessary. We describe the paradigm of the National Kidney Foundation of Singapore (NKF-S), the provider of subsidized d...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2001.23776
更新日期：2001-07-01 00:00:00
abstract：:The important role of hyperglycemia in the genesis of diabetic renal disease has been strengthened by tissue culture studies, experimental animal models, and clinical trials. A mechanistic understanding of the cellular and biochemical processes that link hyperglycemia with the development of diabetic nephropathy is in...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1997-03-01 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：:The renal biopsy provides critical diagnostic and prognostic information to clinicians including cases of acute kidney injury, chronic kidney disease, and allograft dysfunction. Today, biopsy specimens are read using a combination of light microscopy, electron microscopy, and indirect immunofluorescence, with a limite...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2017.09.005
更新日期：2018-01-01 00:00:00
abstract：:Although evidence has accumulated indicating a close relationship between inflammation and atherosclerosis, the relationship between inflammation and vascular calcification in patients with chronic renal failure is unclear. In the present study, the relationship between C-reactive protein (CRP) and vascular calcificat...
journal_title：Seminars in nephrology
pub_type： 杂志文章
doi：10.1016/j.semnephrol.2004.06.008
更新日期：2004-09-01 00:00:00
abstract：:Acid-base balance is critical for normal life. Acute and chronic disturbances impact cellular energy metabolism, endocrine signaling, ion channel activity, neuronal activity, and cardiovascular functions such as cardiac contractility and vascular blood flow. Maintenance and adaptation of acid-base homeostasis are most...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2019.04.004
更新日期：2019-07-01 00:00:00
abstract：:Recombinant human erythropoietin (rHuEPO) has revolutionized the treatment of anemia of chronic renal failure. RHuEPO has been shown to increase survival, decrease hospitalizations, improve brain and cognitive function, and improve quality of life for renal patients. Much has been learned about the normal and patholog...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2001.20939
更新日期：2001-03-01 00:00:00
abstract：:The identification of natriuretic peptides as key regulators of natriuresis and vasodilatation, and the appreciation that their secretion is under the control of cardiac hemodynamic and neurohumoral factors, has caused wide interest. The natriuretic peptides are structurally similar, but genetically distinct peptides ...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1053/snep.2002.35666
更新日期：2002-09-01 00:00:00
abstract：:Early diagnosis of acute kidney injury (AKI) is an important step to improve AKI outcome. In Asia, several distinct conditions of this region such as environment (tropical climate), socioeconomic status (high-resource and low-resource settings), process of care (shortage of nephrologists), exposure factors (specific t...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2020.08.003
更新日期：2020-09-01 00:00:00
abstract：:Antineutrophil cytoplasmic autoantibodies (ANCA) are the likely cause for necrotizing small-vessel vasculitis and crescentic glomerulonephritis. Unlike other forms of crescentic glomerulonephritis induced by immune complexes or anti-glomerular basement membrane antibodies that have conspicuous vessel wall immunoglobul...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2013.08.006
更新日期：2013-11-01 00:00:00
abstract：:Red cell production in chronic kidney disease is usually too low to maintain a normal haemoglobin, and thus anaemia develops in a large proportion of patients. The ability to stimulate erythropoiesis in the bone marrow by the use of therapeutic agents has only been possible in the last 20 years, initially with recombi...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2006.05.008
更新日期：2006-07-01 00:00:00
abstract：:The very limited ability of adult podocytes to proliferate in vivo is clinically significant because podocytes form a vascular barrier that is functionally critical to the nephron, podocyte hypoplasia is a characteristic of disease, and inadequate regeneration of podocytes is a major cause of persistent podocyte hypop...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：10.1016/j.semnephrol.2014.06.008
更新日期：2014-07-01 00:00:00
abstract：:The catecholamines dopamine and norepinephrine, play a central role in the regulation of sodium homeostasis and blood pressure. Dopamine inhibits tubular Na+, K(+)-ATPase activity and increases sodium excretion. Norepinephrine stimulates Na+, K(+)-ATPase activity and decreases urinary sodium excretion. The signaling p...
journal_title：Seminars in nephrology
pub_type： 杂志文章,评审
doi：
更新日期：1993-01-01 00:00:00
