当前位置： SCI文献检索 > KIDNEY INTERNATIONAL期刊下所有文献 > Location of mutations within the PKD2 gene influences clinical outcome.

Location of mutations within the PKD2 gene influences clinical outcome.

Abstract：

BACKGROUND:Since the cloning of the gene for autosomal dominant polycystic kidney disease type 2 (PKD2), approximately 40 different mutations of that gene have been reported to be associated with the disease. The relationship between the PKD2 genotype and phenotype, however, remains unclear. METHODS:Detailed clinical information was collected for PKD2 families in which the underlying mutation had been identified. Logistic regression analysis was employed to assess the influence of age and sex on hypertension, hematuria, renal calculi, and urinary tract infections, and a clinical phenotype score was computed. Patients were then grouped according to the relative location of their mutation within the cDNA sequence, and differences in the mean phenotypic score between groups were tested for statistical significance by means of a multiple pairwise t-test. RESULTS:While phenotypic scores for each mutational group revealed a considerable degree of intragroup variability, the variability in phenotypic scores was significantly higher between mutational groups than within groups. A group-wise comparison of the mean phenotypic scores confirmed the observation of significant nonlinear variation in disease severity, with high- and low-scoring mutational groups interspersed along the gene sequence. CONCLUSION:The identification of groups of mutations in the PKD2 gene, which differ significantly with respect to clinical outcome, is to our knowledge the first description of a genotype/phenotype correlation in autosomal dominant polycystic kidney disease. It also provides evidence against complete loss of function of the mutant PKD2 gene product.

journal_name

Kidney Int

journal_title

Kidney international

authors

Hateboer N,Veldhuisen B,Peters D,Breuning MH,San-Millán JL,Bogdanova N,Coto E,van Dijk MA,Afzal AR,Jeffery S,Saggar-Malik AK,Torra R,Dimitrakov D,Martinez I,de Castro SS,Krawczak M,Ravine D

doi

10.1046/j.1523-1755.2000.00989.x

subject

Has Abstract

pub_date

2000-04-01 00:00:00

pages

1444-51

issue

4

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)46894-2

journal_volume

57

pub_type

杂志文章,多中心研究

相关文献

KIDNEY INTERNATIONAL文献大全
  • Dual RAAS blockade is desirable in kidney disease: con.

    abstract：:Dual renin-angiotensin aldosterone (RAAS) blockade is associated with higher risk of hyperkalemia and has not been shown, in any outcome trial of validated renal end points, that is, doubling of creatinine, time to dialysis, or death, to be superior over other approaches. It shows promise in advanced proteinuric nephr...

    journal_title：Kidney international

    pub_type： 评论,杂志文章,评审

    doi：10.1038/ki.2010.226

    authors： Bakris GL

    更新日期：2010-09-01 00:00:00

  • Inhibition of eNOS phosphorylation mediates endothelial dysfunction in renal failure: new effect of asymmetric dimethylarginine.

    abstract：:Patients with chronic kidney disease have elevated circulating asymmetric dimethylarginine (ADMA). Recent studies have suggested that ADMA impairs endothelial nitric oxide synthase (eNOS) by effects other than competition with the substrate L-arginine. Here, we sought to identify the molecular mechanism by which incre...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2011.476

    authors： Kajimoto H,Kai H,Aoki H,Yasuoka S,Anegawa T,Aoki Y,Ueda S,Okuda S,Imaizumi T

    更新日期：2012-04-01 00:00:00

  • Cytoprotective effects of adrenomedullin in glomerular cell injury: central role of cAMP signaling pathway.

    abstract：:Activation of cAMP signaling pathway was shown to inhibit some pathobiologic processes in mesangial cells (MC). We investigated whether adrenomedullin (ADM), a potent agonist of adenylate cyclase, is synthesized in MC and whether it can, via cAMP, suppress the generation of reactive oxygen metabolites (ROM) and prolif...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1997.413

    authors： Chini EN,Chini CC,Bolliger C,Jougasaki M,Grande JP,Burnett JC Jr,Dousa TP

    更新日期：1997-10-01 00:00:00

  • Activated extracellular signal-regulated kinase correlates with cyst formation and transforming growth factor-beta expression in fetal obstructive uropathy.

    abstract：:Human renal dysplasia is frequently associated with urinary tract obstruction and the abnormal expression of mitogen-activated protein kinase (MAPK). Here, we determined the renal responses and MAPK expression in developing kidneys that were obstructed in fetal lambs. Kidneys were harvested at various times after obst...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2008.3

    authors： Omori S,Kitagawa H,Koike J,Fujita H,Hida M,Pringle KC,Awazu M

    更新日期：2008-05-01 00:00:00

  • Risk factors for cyclosporine-induced tubulointerstitial lesions in children with minimal change nephrotic syndrome.

    abstract：BACKGROUND:Cyclosporine (CsA) is effective for the treatment of children with steroid-dependent and -resistant nephrotic syndrome (NS), but it can result in chronic CsA nephrotoxicity including CsA-induced tubulointerstitial lesions. The factors responsible for the development of CsA-induced tubulointerstitial lesions ...

    journal_title：Kidney international

    pub_type： 临床试验,杂志文章

    doi：10.1046/j.1523-1755.2002.00303.x

    authors： Iijima K,Hamahira K,Tanaka R,Kobayashi A,Nozu K,Nakamura H,Yoshikawa N

    更新日期：2002-05-01 00:00:00

  • The AT2 gene may have a gender-specific effect on kidney function and pulse pressure in type I diabetic patients.

    abstract：:Diabetic nephropathy shows a higher incidence in male subjects, which may in part be owing to genetic factors. The angiotensin II type 2 receptor (AT2), present in the renal glomerulus, may oppose the deleterious effects of the type I receptor (AT1) through vasodilatation and growth inhibition. We determined whether t...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5000348

    authors： Pettersson-Fernholm K,Fröjdö S,Fagerudd J,Thomas MC,Forsblom C,Wessman M,Groop PH,FinnDiane Study Group.

    更新日期：2006-05-01 00:00:00

  • Differential contribution of C5aR and C5b-9 pathways to renal thrombic microangiopathy and macrovascular thrombosis in mice carrying an atypical hemolytic syndrome-related factor H mutation.

    abstract：:Atypical hemolytic uremic syndrome (aHUS) is a form of thrombotic microangiopathy (TMA) caused by dysregulated complement activation. Clinically, aHUS is effectively treated by an anti-C5 monoclonal antibody (mAb) but whether the disease is mediated by the C5a receptor (C5aR) or C5b-9 pathway, or both, is unknown. Her...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2019.01.009

    authors： Ueda Y,Miwa T,Ito D,Kim H,Sato S,Gullipalli D,Zhou L,Golla M,Song D,Dunaief JL,Palmer MB,Song WC

    更新日期：2019-07-01 00:00:00

  • Cellular and molecular pathways of renal repair after acute kidney injury.

    abstract：:The acutely injured mammalian kidney mounts a cellular and molecular response to repair itself. However, in patchy regions such intrinsic processes are impaired and dysregulated leading to chronic kidney disease. Currently, no therapy exists to treat established acute kidney injury per se. Strategies to augment human ...

    journal_title：Kidney international

    pub_type： 杂志文章,评审

    doi：10.1016/j.kint.2017.07.030

    authors： Kumar S

    更新日期：2018-01-01 00:00:00

  • Interleukin-6 contributes to the increase in fibroblast growth factor 23 expression in acute and chronic kidney disease.

    abstract：:The high serum fibroblast growth factor 23 (FGF23) levels in patients with acute kidney injury (AKI) and chronic kidney disease (CKD) are associated with increased morbidity and mortality. Mice with folic acid-induced AKI had an increase in bone FGF23 mRNA expression together with an increase in serum FGF23 and severa...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2018.02.026

    authors： Durlacher-Betzer K,Hassan A,Levi R,Axelrod J,Silver J,Naveh-Many T

    更新日期：2018-08-01 00:00:00

  • Coordinate regulation of canine glomeruli and adrenal angiotensin receptors by dietary sodium manipulation.

    abstract：BACKGROUND:This study evaluated the effects of dietary sodium manipulation in dogs on the regulation of canine angiotensin receptors (cAT1 and cAT2) in the kidney and adrenal. METHODS:Isolated glomeruli and membranes from renal medulla and the adrenal gland were used in radioligand binding assays from two groups of do...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2001.0590051881.x

    authors： Zheng W,Ji H,Szabo Z,Brown PR,Yoo SE,Sandberg K

    更新日期：2001-05-01 00:00:00

  • Subcellular localization of glucocorticoid receptor protein in the human kidney glomerulus.

    abstract：BACKGROUND:The detailed mechanisms of glucocorticoid action in idiopathic nephrotic syndrome and progressive glomerulonephritides have not been clearly elucidated. The pharmacological actions of glucocorticoids are mediated by their binding to an intracellular protein, the glucocorticoid receptor (GR). The determinatio...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00503.x

    authors： Yan K,Kudo A,Hirano H,Watanabe T,Tasaka T,Kataoka S,Nakajima N,Nishibori Y,Shibata T,Kohsaka T,Higashihara E,Tanaka H,Watanabe H,Nagasawa T,Awa S

    更新日期：1999-07-01 00:00:00

  • Chronic respiratory alkalosis induces renal PTH-resistance, hyperphosphatemia and hypocalcemia in humans.

    abstract：:The effects of chronic respiratory alkalosis on divalent ion homeostasis have not been reported in any species. We studied four normal male subjects during a four-day control period (residence at 500 m), during six days of chronic respiratory alkalosis induced by hypobaric hypoxia (residence at 3450 m), followed by a ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1992.340

    authors： Krapf R,Jaeger P,Hulter HN

    更新日期：1992-09-01 00:00:00

  • National trend of the incidence of urolithiasis in Japan from 1965 to 1995.

    abstract：BACKGROUND:A nationwide survey of urolithiasis in Japan was made in order to evaluate the chronological trend of upper urinary tract stones in the Japanese. It succeeded previous studies done in 1955, 1966, 1979, and 1990. METHODS:All outpatient visits to urologists that resulted in a diagnosis of first-episode upper ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00754.x

    authors： Yoshida O,Terai A,Ohkawa T,Okada Y

    更新日期：1999-11-01 00:00:00

  • High dose-B-vitamin treatment of hyperhomocysteinemia in dialysis patients.

    abstract：:Hyperhomocysteinemia, an arteriosclerotic risk factor, persists in 75% of dialysis patients despite routine low dose supplementation with the B-vitamin co-factors/substrates for homocysteine (Hcy) metabolism, and normal or supernormal plasma status of these vitamins (Atherosclerosis 114:93, 1995). We conducted a place...

    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：10.1038/ki.1996.19

    authors： Bostom AG,Shemin D,Lapane KL,Hume AL,Yoburn D,Nadeau MR,Bendich A,Selhub J,Rosenberg IH

    更新日期：1996-01-01 00:00:00

  • Effects of TCN2 776C>G on vitamin B, folate, and total homocysteine levels in kidney transplant patients.

    abstract：BACKGROUND:Controversy exists regarding the possible associations between a single nucleotide polymorphism of the transcobalamin II encoding gene (TCN2 776C>G) and plasma levels of vitamin B(12), folate, or total homocysteine. METHODS:In a cross-sectional study of 732 kidney allograft recipients, patients were categor...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2004.00592.x

    authors： Winkelmayer WC,Skoupy S,Eberle C,Födinger M,Sunder-Plassmann G

    更新日期：2004-05-01 00:00:00

  • Subtotal nephrectomy impairs ischemia-induced angiogenesis and hindlimb re-perfusion in rats.

    abstract：:Kidney disease is associated with increased cardiovascular morbidity, but underlying mechanisms are poorly understood. We tested the hypothesis that chronic renal insufficiency impairs angioadaptation in a rat model of hindlimb ischemia. Twenty male Sprague-Dawley rats (8 weeks old) underwent subtotal nephrectomy (5/6...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5000448

    authors： Jacobi J,Porst M,Cordasic N,Namer B,Schmieder RE,Eckardt KU,Hilgers KF

    更新日期：2006-06-01 00:00:00

  • Nature of glomerular dysfunction in pre-eclampsia.

    abstract：BACKGROUND:Pre-eclampsia is characterized by hypertension, proteinuria and edema. Simultaneous studies of kidney function and structure have not been reported. We wished to explore the degree and nature of glomerular dysfunction in pre-eclampsia. METHODS:Physiologic techniques were used to estimate glomerular filtrati...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1998.00097.x

    authors： Lafayette RA,Druzin M,Sibley R,Derby G,Malik T,Huie P,Polhemus C,Deen WM,Myers BD

    更新日期：1998-10-01 00:00:00

  • High glucose inhibits renal proximal tubule cell proliferation and involves PKC, oxidative stress, and TGF-beta 1.

    abstract：BACKGROUND:The alteration of renal cell growth is one of the early abnormalities in the diabetic nephropathy. However, the effects of high glucose and its action mechanism in renal proximal tubule cell (PTC) proliferation have not been elucidated. METHODS:The effects of 25 mmol/L glucose on cell proliferation, thymidi...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2001.0590051695.x

    authors： Park SH,Choi HJ,Lee JH,Woo CH,Kim JH,Han HJ

    更新日期：2001-05-01 00:00:00

  • Nutrition in end-stage renal disease.

    abstract：:In summary, it is evident that malnutrition is highly prevalent in ESRD patients. This is clearly related to multiple factors encountered during the pre-dialysis stage, as well as during maintenance dialysis therapy. A body of evidence highlights the existence of relationship between malnutrition and outcome in this p...

    journal_title：Kidney international

    pub_type： 杂志文章,评审

    doi：10.1038/ki.1996.323

    authors： Ikizler TA,Hakim RM

    更新日期：1996-08-01 00:00:00

  • Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

    abstract：:Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutat...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2011.297

    authors： Gbadegesin RA,Lavin PJ,Hall G,Bartkowiak B,Homstad A,Jiang R,Wu G,Byrd A,Lynn K,Wolfish N,Ottati C,Stevens P,Howell D,Conlon P,Winn MP

    更新日期：2012-01-01 00:00:00

  • Mineralocorticoid effect on K+ permeability of the rabbit cortical collecting tubule.

    abstract：:Mineralocorticoid hormones stimulate Na+ absorption and K+ secretion by the cortical collecting tubule. There is good evidence that this stimulation involves increasing luminal membrane Na+ permeability and the turnover rate (or number) of the Na+-K+ pumps. These experiments were designed to examine whether mineraloco...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1985.177

    authors： Stokes JB

    更新日期：1985-10-01 00:00:00

  • Angiopoietin-1 therapy enhances fibrosis and inflammation following folic acid-induced acute renal injury.

    abstract：:The loss of interstitial capillaries is a feature of several experimental models of renal disease and this contributes to secondary kidney injury. Angiopoietin-1 is a secreted growth factor which binds to Tie-2 present on endothelia to enhance cell survival thereby stabilizing capillary architecture in-vitro. Previous...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2008.179

    authors： Long DA,Price KL,Ioffe E,Gannon CM,Gnudi L,White KE,Yancopoulos GD,Rudge JS,Woolf AS

    更新日期：2008-08-01 00:00:00

  • T-cell transcriptome analysis points up a thymic disorder in idiopathic nephrotic syndrome.

    abstract：BACKGROUND:Idiopathic nephrotic syndrome is a proteinuric disease secondary to the release of a nonidentified circulating glomerular permeability factor by T cells. Because specificities of T-cell activation in idiopathic nephrotic syndrome remain unknown, we evaluated transcriptional activation of T cells in nephrotic...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2005.00322.x

    authors： Mansour H,Cheval L,Elalouf JM,Aude JC,Alyanakian MA,Mougenot B,Doucet A,Deschênes G

    更新日期：2005-06-01 00:00:00

  • Lipid peroxidation in human proteinuric disease.

    abstract：BACKGROUND:While metabolically generated oxidants are produced locally in experimental glomerular diseases, little is still known of their significance and the respective scavenger systems in human glomerular diseases. METHODS:Here we studied kidneys from patients with congenital nephrotic syndrome of the Finnish type...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2001.059002481.x

    authors： Solin ML,Ahola H,Haltia A,Ursini F,Montine T,Roveri A,Kerjaschki D,Holthöfer H

    更新日期：2001-02-01 00:00:00

  • An increasing number of calcium oxalate stone events worsens treatment outcome.

    abstract：:Current practice recommends metabolic evaluation of patients who have formed multiple renal stones, but not those with one stone or temporally remote stones. This presumes that recentness and recurrence imply greater risk of new future stones. We hypothesize that number of stones reflects how long patients are permitt...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1994.224

    authors： Parks JH,Coe FL

    更新日期：1994-06-01 00:00:00

  • FcγRIIB regulates T-cell autoreactivity, ANCA production, and neutrophil activation to suppress anti-myeloperoxidase glomerulonephritis.

    abstract：:Anti-neutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis involves innate and adaptive immune cells in the induction of autoimmunity and in autoimmune effector responses. Most Fcγ receptors (FcγRs) activate immune cells, but FcγRIIB, found in humans and mice on B cells and innate cells, is an inhibitor...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2014.189

    authors： Ooi JD,Gan PY,Chen T,Eggenhuizen PJ,Chang J,Alikhan MA,Odobasic D,Holdsworth SR,Kitching AR

    更新日期：2014-12-01 00:00:00

  • Dialysis-requiring acute renal failure increases the risk of progressive chronic kidney disease.

    abstract：:To determine whether acute renal failure (ARF) increases the long-term risk of progressive chronic kidney disease (CKD), we studied the outcome of patients whose initial kidney function was normal or near normal but who had an episode of dialysis-requiring ARF and did not develop end-stage renal disease within 30 days...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2009.289

    authors： Lo LJ,Go AS,Chertow GM,McCulloch CE,Fan D,Ordoñez JD,Hsu CY

    更新日期：2009-10-01 00:00:00

  • Transcription, not synthesis, of interleukin-1 and tumor necrosis factor by complement.

    abstract：:Stimulation of interleukin-1 beta (IL-1 beta) and tumor necrosis factor (TNF alpha) production was studied during in vitro hemodialysis (HD) of whole blood using cuprammonium (Cup) or polysulfone (PS) dialyzers. In the absence of LPS, circulation of whole blood for two hours through Cup or PS dialyzers was not suffici...

    journal_title：Kidney international

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1038/ki.1990.12

    authors： Schindler R,Lonnemann G,Shaldon S,Koch KM,Dinarello CA

    更新日期：1990-01-01 00:00:00

  • Microalbuminuria three years after recovery from Escherichia coli O157 hemolytic uremic syndrome due to municipal water contamination.

    abstract：BACKGROUND:Knowledge of the long-term renal prognosis of diarrhea associated hemolytic uremic syndrome (HUS) is important for patient counseling and follow-up. However, estimates of long-term risk are highly variable, with previous studies not using a healthy control group. METHODS:A municipal water system in the smal...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2005.00225.x

    authors： Garg AX,Clark WF,Salvadori M,Macnab J,Suri RS,Haynes RB,Matsell D,Walkerton Health Study Investigators.

    更新日期：2005-04-01 00:00:00

  • Increased susceptibility to erythrocyte C5b-9 deposition and complement-mediated lysis in chronic renal failure.

    abstract：BACKGROUND:Decreased red blood cell survival contributes to the anemia of chronic renal failure patients. Because patients on chronic dialysis therapy are frequently exposed to excessive complement activation, we investigated the susceptibility of this patient population to erythrocyte C5b-9 deposition, complement-medi...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00277.x

    authors： Himmelfarb J,McMonagle E,Holbrook D,Hakim R

    更新日期：1999-02-01 00:00:00