Abstract:
:Renal stone disease, which affects 12% of males and 5% of females by the seventh decade, occurs as an inherited disorder in 45% of patients and is most commonly associated with hypercalciuria. The biochemical basis for hereditary nephrolithiasis and hypercalciuria is unknown, and this has therefore been investigated by a "positional cloning" approach. As a first step in this approach, the chromosomal locations of two disorders referred to as Dent's disease and X-linked recessive nephrolithiasis (XRN) were determined. These two disorders, which represent unusual forms of the renal Fanconi syndrome, are characterized by a low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and renal failure. An X-linked inheritance for XRN was established by studies of a North American kindred, and a similar inheritance for Dent's disease was indicated by the observation of a greater disease severity in males and an absence of male-to-male transmission in five British families. X-linked polymorphic genetic markers were used in linkage studies of these families, and the genes causing Dent's disease and XRN were mapped to Xp11. In addition, in one family with Dent's disease, a microdeletion involving the DNA probe M27 beta was identified. This microdeletion was further characterized by using yeast artificial chromosomes (YACs) and its size was estimated to be 515 Kb. A search for renal-expressed genes from this region identified a novel gene encoding a chloride channel (CLCN5) with similarities to a family of voltage-gated chloride channels. Molecular genetic studies of CLCN5 demonstrated that mutations, which resulted in a functional loss, were associated with Dent's disease and XRN. In addition, such CLCN5 mutations that would result in a functional loss have also been demonstrated in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis, and an Italian kindred with X-linked recessive hypophosphatemic rickets (XLRH) and hypercalciuria. Thus, four hereditary disorders of nephrolithiasis are due to mutations of the novel chloride channel, CLCN5.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Thakker RVdoi
10.1046/j.1523-1755.2000.00916.xsubject
Has Abstractpub_date
2000-03-01 00:00:00pages
787-93issue
3eissn
0085-2538issn
1523-1755pii
S0085-2538(15)46809-7journal_volume
57pub_type
杂志文章,评审abstract::The clinical value of biocompatible peritoneal dialysis solutions is uncertain because of inconsistent findings in randomized controlled trials. A systematic review by Cho et al. examining 20 such trials suggests a beneficial effect on residual renal function. However, the finding is not robust and may relate to decre...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2013.303
更新日期:2013-11-01 00:00:00
abstract::The present studies address the metabolic processes that support the reabsorption of sodium and the secretion of bicarbonate in the interspersed but distinct principal and intercalated cells of the cortical collecting duct (CCD). In microperfused rabbit CCD, sodium reabsorption was measured by lumen-to-bath 22Na flux,...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00754.x
更新日期:1998-02-01 00:00:00
abstract::It has been convincingly documented that reactive oxygen species released from activated neutrophils mediate glomerular damage in experimental glomerulonephritis. Recent findings that antineutrophil cytoplasmic autoantibodies (ANCA) induce neutrophils to degranulate and produce oxygen radicals in vitro led us to explo...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.233
更新日期:1993-07-01 00:00:00
abstract::Loss of hypoxic vasodilation has been proposed as a causative factor in the development of hypertension in dialysis patients treated with recombinant human erythropoietin (rHuEPO). Venous occlusion plethysmography was therefore performed on 22 dialysis patients (aged 23 to 71 years, dialysis duration 6 to 260 months, ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.376
更新日期:1992-10-01 00:00:00
abstract::Vascular permeability factor (VPF), also known as vascular endothelial growth factor (VEGF), is a potent microvascular permeability-enhancing mediator as well as a selective mitogen for vascular endothelium. In this study, in situ hybridization and immunohistochemistry co-localized VPF mRNA and protein to glomerular v...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.441
更新日期:1992-12-01 00:00:00
abstract::Antineutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV) commonly results in glomerulonephritis, in which neutrophils and monocytes have important roles. The heterodimer calprotectin (S100A8/S100A9, mrp8/14) is a Toll-like receptor-4 ligand found in neutrophils and monocytes and is elevated in inflammatory...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2013.2
更新日期:2013-06-01 00:00:00
abstract:BACKGROUND:The new oral microemulsion formulation of cyclosporine (Neoral) possesses superior pharmacokinetics to the conventional formulation, Sandimmun (SIM), providing more complete and predictable absorption, and less pharmacokinetic variability. METHODS:The safety and tolerability of Neoral, together with the inc...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1046/j.1523-1755.1998.00042.x
更新日期:1998-09-01 00:00:00
abstract::This study examined the expression of EPO, VEGF and VEGF receptor gene under conditions of reduced oxygen supply in primary cultures of rat hepatocytes, and compared it with the expression of these genes in hypoxic rat livers in vivo. To this end we exposed male Sprague-Dawley rats to hypoxia (10% and 8% O2), carbon m...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.60
更新日期:1997-02-01 00:00:00
abstract::Precise immunofluorescence criteria for C3 glomerulopathy remain to be defined. Here we tested hierarchical immunofluorescence criteria with varying stringency for C3 glomerulopathy in a cohort with dense deposit disease as the gold standard and then applied these criteria to analyze the incidence of C3 glomerulopathy...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2013.340
更新日期:2014-02-01 00:00:00
abstract:BACKGROUND:Although the existence of multiple isoforms of plasma membrane calcium ATPase (PMCA) is now well documented, their biological functions are not yet known. In this study, we set out to investigate the potential role of PMCA isoforms, previously identified in renal cortical tissue, in tubular reabsorption of c...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00736.x
更新日期:1999-11-01 00:00:00
abstract:BACKGROUND:Segmental glomerular necrosis has been described in the biopsy material in a minority of patients with idiopathic IgA nephropathy in the oldest studies on this disease, but this marker of active capillaritis has received little attention in the subsequent literature, and its significance and relevance for th...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.059002682.x
更新日期:2001-02-01 00:00:00
abstract::Renal iron handling was characterized in three experimental models of the nephrotic syndrome: puromycin aminonucleoside, adriamycin and nephrotoxic serum. In adriamycin-induced nephrotic syndrome, which has previously been shown to result from alterations in pore size of the filtration barrier, the transferrin leak wa...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.130
更新日期:1990-06-01 00:00:00
abstract:BACKGROUND:We have previously reported that the serum concentration of 2-(alpha-mannopyranosyl)-L-tryptophan (MPT), tryptophan glycoconjugate, is a more accurate measure of renal function than that of serum creatinine concentration. The aim of the present study was to compare the diagnostic value of serum concentration...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00521.x
更新日期:2004-04-01 00:00:00
abstract:BACKGROUND:The substitution of tryptophan for glycine at amino acid 460 (Gly460Trp polymorphism) of the alpha-subunit of the heterodimeric cytoskeleton protein adducin increases renal sodium reabsorption and may be involved in the pathophysiology of essential hypertension. In the present study, we investigated in multi...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2002.00691.x
更新日期:2002-12-01 00:00:00
abstract:BACKGROUND:Genetic polymorphisms of the angiotensinogen (AGT) and angiotensin-converting enzyme (ACE) genes are associated with increased risk of hypertension and left ventricular hypertrophy (LVH) in hypertensive subjects. However, the extent to which these polymorphisms are related to LVH and remodeling in dialysis p...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00933.x
更新日期:2003-05-01 00:00:00
abstract::Pain is a common complaint in patients with autosomal-dominant polycystic kidney disease, and a systematic approach is needed to differentiate the etiology of the pain and define an approach to management. A thorough history is the best clue to the multifactorial causes of the pain, superimposed upon an understanding ...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1046/j.1523-1755.2001.00985.x
更新日期:2001-11-01 00:00:00
abstract::Long-term complications of continuous immunosuppression still remain a serious threat and are currently drawing the attention of transplant physicians. Wimmer et al. show that malignancy occurs approximately fourfold more frequently in renal-transplant recipients than in a normal control population. Besides immunosupp...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/sj.ki.5002306
更新日期:2007-06-01 00:00:00
abstract::Sustained oliguria during fluid resuscitation represents a perplexing problem in patients undergoing therapy for septic acute kidney injury. Here, we tested whether lipopolysaccharide induces filtrate leakage from the proximal tubular lumen into the interstitium, thus disturbing the recovery of urine output during the...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2019.11.024
更新日期:2020-05-01 00:00:00
abstract::Hypertriglyceridemia is the most prevalent lipid alteration in end-stage renal disease, and we studied the relationship between serum triglycerides and all-cause and cardiovascular death in these patients. Since abdominal fat modifies the effect of lipids on atherosclerosis, we analyzed the interaction between serum l...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2010.493
更新日期:2011-04-01 00:00:00
abstract::The risk of death in hemodialysis patients treated with calcium-containing phosphate binders or sevelamer is not known. We assessed all-cause mortality in 127 patients new to hemodialysis assigned to calcium-containing binders or sevelamer after a median follow-up of 44 months from randomization. This was a predetermi...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1038/sj.ki.5002059
更新日期:2007-03-01 00:00:00
abstract::We report the first case of a mitochondrial DNA (mtDNA) deletion diagnosed by renal biopsy. An eight-year-old girl with megaloblastic anemia and severe growth retardation developed progressive renal insufficiency accompanied by partial Fanconi syndrome. Histologic examination of the renal biopsy disclosed nonspecific ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.181
更新日期:1994-05-01 00:00:00
abstract::Since the kidney medulla was reported to generate platelet activating factor (PAF), we investigated a possible effect of this agent on the reabsorptive function of in vitro microperfused medullary thick ascending limbs from mouse kidney (mTAL). PAF, 10(-7) M in the bath, significantly decreased the net chloride flux (...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.38
更新日期:1992-02-01 00:00:00
abstract::Kinetic parameters were studied to determine the effectiveness of hemoperfusion in removing ethychlorvynol from the plasma and red blood cells (RBC) of intoxicated dogs. Perfusion columns contained polystyrene/divinyl benzene resin (XAD-4 Amberlite. Column clearances of ethchlorvynol averaged 96.5 +/- 0.4% of the plas...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1980.36
更新日期:1980-03-01 00:00:00
abstract::Cilnidipine, a dual L-/N-type calcium channel blocker, dilates both efferent and afferent arterioles and is renoprotective. Our multi-center, open-labeled, and randomized trial compared the antiproteinuric effect of cilnidipine with that of amlodipine in hypertensive patients with kidney disease. A group of 339 patien...
journal_title:Kidney international
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1038/sj.ki.5002623
更新日期:2007-12-01 00:00:00
abstract::The transition between the glomerulus and the proximal tubule was studied by light and electron microscopy in perfusion-fixed rabbit kidneys. In most nephrons a transitional segment of tubule occurred between the Bowman's capsule and the proximal tubule proper. This initial part of the tubule was lined by flattened ce...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1975.22
更新日期:1975-03-01 00:00:00
abstract::The soluble receptor of advanced glycation end product (sRAGE) prevents vascular damage in experimental animal models, and observational studies in the general population support the hypothesis that sRAGE may exert a protective role on the vasculature. To test this in patients with chronic kidney disease, we determine...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2009.419
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:Several lines of evidence suggest that cellular immune mechanisms contribute to glomerulonephritis. METHODS:The roles of alphabeta and gammadelta T cells in the pathogenesis of glomerulonephritis were investigated in a model of nephrotoxic nephritis in mice deficient in either T-cell population [T-cell rece...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00263.x
更新日期:2000-09-01 00:00:00
abstract::Vascular sclerosis has been linked to many risk factors, including smoking, family history, low birth weight, and hypertension. In interesting studies, Goforth et al. show an increased rate of mutations in thrombophilic molecules in patients with vascular sclerosis in renal biopsies, suggesting yet another mechanism. ...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/sj.ki.5001721
更新日期:2006-08-01 00:00:00
abstract::The increasing use of mice in renal and cardiovascular studies has necessitated adapting physiological methods used for rats to mice, which are far smaller in size. We have adapted measurements of continuous renal blood flow, pressure natriuresis and diuresis, and laser-Doppler cortical and medullary flow to 40 g mice...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.462
更新日期:1997-11-01 00:00:00
abstract::Acute elevations in intracellular adenosine 3',5'-cyclic monophosphate (cAMP) concentrations are known to increase ionic chloride permeability in diverse tissues. To determine if chronic endogenous increases in cAMP are associated with sustained alterations in membrane ionic permeabilities, renal cortical brush border...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.290
更新日期:1992-08-01 00:00:00