当前位置： SCI文献检索 > KIDNEY INTERNATIONAL期刊下所有文献 > Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.

Familial nephrotic syndrome: clinical spectrum and linkage to chromosome 19q13.

Abstract：

BACKGROUND:Familial nephrotic syndrome (NS) has both autosomal dominant and recessive forms of inheritance. Recent studies in families with an autosomal dominant form of focal segmental glomerulosclerosis (FSGS) have been at odds concerning linkage to chromosome 19q13 (Mathis et al, Kidney Int 53:282-286, 1998; Winn et al, Kidney Int 55:1241-1246, 1999), suggesting genetic heterogeneity. This study examines the clinical features and confirms linkage to chromosome 19q13 in a family with autosomal dominant NS. METHODS:DNA samples were obtained from 16 of 17 family members. Genomic DNA was isolated, and polymerase chain reaction was performed for five markers spanning the area of interest on chromosome 19q13. Data were evaluated using two- and six-point linkage analysis. RESULTS:Clinical features included presentation of NS in childhood, steroid unresponsiveness, and slow progression to renal failure. Renal biopsy in affected family members showed lesions ranging from minimal change to mesangial proliferative glomerulonephritis to FSGS. Linkage was confirmed between the disease state and chromosome 19q13, with a maximum logarithm of odds (LOD) score of 2.41. Linkage was observed for a 7 cM region on chromosome 19q13, defined by markers D19S425 and D19S220. CONCLUSIONS:This study confirms the Mathis et al report of linkage to chromosome 19q13 in a family with autosomal dominant NS. However, there were notable differences in the presenting clinical and histopathologic features of our affected family members compared with those of Mathis et al. This suggests that the gene on chromosome 19q13 may be responsible for considerable phenotypic heterogeneity and variable expression in both clinical presentation and renal histopathology.

journal_name

Kidney Int

journal_title

Kidney international

authors

Vats A,Nayak A,Ellis D,Randhawa PS,Finegold DN,Levinson KL,Ferrell RE

doi

10.1046/j.1523-1755.2000.057003875.x

subject

Has Abstract

pub_date

2000-03-01 00:00:00

pages

875-81

issue

3

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)46819-X

journal_volume

57

pub_type

杂志文章

相关文献

KIDNEY INTERNATIONAL文献大全
  • Liver fatty acid-binding protein as a biomarker of acute kidney injury after cardiac surgery.

    abstract：:Acute kidney injury (AKI) is a major complication of cardiac bypass surgery. We examined whether levels of liver fatty acid-binding protein (L-FABP) can be an early biomarker for ischemic injury by measuring this protein in the urine of 40 pediatric patients prior to and following cardiopulmonary bypass surgery. AKI w...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5002721

    authors： Portilla D,Dent C,Sugaya T,Nagothu KK,Kundi I,Moore P,Noiri E,Devarajan P

    更新日期：2008-02-01 00:00:00

  • Magnetic resonance imaging of urea transporter knockout mice shows renal pelvic abnormalities.

    abstract：:Many transgenic and knockout mice with increased urine flow have structural abnormalities of the renal pelvis and inner medulla. Here, we used high resolution contrast enhanced T1-weighted magnetic resonance imaging of mice whose urea transporters UT-A1 and UT-A3 were deleted (UT-A1/3(-/-) mice) as a model for the in ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2008.392

    authors： Jacob VA,Harbaugh CM,Dietz JR,Fenton RA,Kim SM,Castrop H,Schnermann J,Knepper MA,Chou CL,Anderson SA

    更新日期：2008-11-01 00:00:00

  • Apoptosis and necrosis: mechanisms of cell death induced by cyclosporine A in a renal proximal tubular cell line.

    abstract：BACKGROUND:The mechanisms of cyclosporine (CsA)-induced nephrotoxicity are not fully understood. While hemodynamic changes may be involved in vivo, there is also some evidence for tubular involvement. We previously showed direct toxicity of CsA in the LLC-PK1 renal tubular cell line. In the current study we examined me...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1998.00202.x

    authors： Healy E,Dempsey M,Lally C,Ryan MP

    更新日期：1998-12-01 00:00:00

  • Pharmacokinetics and pharmacodynamics of oral tolvaptan in patients with varying degrees of renal function.

    abstract：:The selective vasopressin V2-receptor antagonist tolvaptan is eliminated almost exclusively by non-renal mechanisms. As renal impairment can influence the pharmacokinetics of drugs even when eliminated by non-renal mechanisms, we evaluated the effect of renal insufficiency on the pharmacokinetics/pharmacodynamics of t...

    journal_title：Kidney international

    pub_type： 临床试验,杂志文章

    doi：10.1038/ki.2013.350

    authors： Shoaf SE,Bricmont P,Mallikaarjun S

    更新日期：2014-04-01 00:00:00

  • Amylin deposition in the kidney of patients with diabetic nephropathy.

    abstract：:Amylin (islet amyloid peptide) plays a critical role in islet amyloidosis and in the development of beta-cell dysfunction in patients with diabetes; however, the involvement of amylin in renal amyloidosis has not been studied. For this reason, we surveyed 149 patients with biopsy-proven diabetic nephropathy (DN). The ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5002305

    authors： Gong W,Liu ZH,Zeng CH,Peng A,Chen HP,Zhou H,Li LS

    更新日期：2007-07-01 00:00:00

  • Membrane proteinase 3 expression and ANCA-induced neutrophil activation.

    abstract：BACKGROUND:Proteinase 3 is the major autoantigen in Wegener's granulomatosis (WG). Membrane PR3 expression is bimodal; low expressing cells (mPR3(low)) can be distinguished from cells with high expression (mPR3(high)) within a given individual. High mPR3 expression is a WG risk factor and is associated with relapse. Ho...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2004.00640.x

    authors： Schreiber A,Luft FC,Kettritz R

    更新日期：2004-06-01 00:00:00

  • Rebound kinetics of beta2-microglobulin after hemodialysis.

    abstract：BACKGROUND:Evaluation of beta2-microglobulin (beta2m) removal during hemodialysis using predialysis and immediate postdialysis plasma concentrations is only valid in the absence of postdialysis rebound. Postdialysis rebound of beta2m has not been studied extensively, and its importance in the determination of beta2m cl...

    journal_title：Kidney international

    pub_type： 临床试验,杂志文章

    doi：10.1046/j.1523-1755.1999.00669.x

    authors： Leypoldt JK,Cheung AK,Deeter RB

    更新日期：1999-10-01 00:00:00

  • Role of hyperpolarization-activated cation channels in pyeloureteric peristalsis.

    abstract：:Although it has been recognized for more than 140 years that the pacemaker driving pyeloureteric peristalsis resides within the kidney, the cellular mechanisms underlying this autorhythmicity have been little investigated. The demonstration by Hurtado et al. of a role of hyperpolarization-activated cation channels in ...

    journal_title：Kidney international

    pub_type： 评论,杂志文章

    doi：10.1038/ki.2009.485

    authors： Lang RJ

    更新日期：2010-03-01 00:00:00

  • Peripheral donor leukocytes prolong survival of rat renal allografts.

    abstract：BACKGROUND:The development of strategies to enhance the survival of transplanted organs and to potentially lower or even discontinue immunosuppressive therapy would represent a significant advancement in post-transplant patient care. METHODS:We studied the effect of pretransplant infusion of donor leukocytes alone or ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.1999.00631.x

    authors： Noris M,Azzollini N,Mister M,Pezzotta A,Piccinini G,Casiraghi F,Cugini D,Perico N,Orisio S,Remuzzi G

    更新日期：1999-09-01 00:00:00

  • Presence of lipids in urine, crystals and stones: implications for the formation of kidney stones.

    abstract：BACKGROUND:Cell membranes and their lipids play critical roles in calcification. Specific membrane phospholipids promote the formation of calcium phosphate and become a part of the organic matrix of growing calcification. We propose that membrane lipids also promote the formation of calcium oxalate (CaOx) and calcium p...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2002.00676.x

    authors： Khan SR,Glenton PA,Backov R,Talham DR

    更新日期：2002-12-01 00:00:00

  • Plasma, urine, and renal expression of adiponectin in human systemic lupus erythematosus.

    abstract：BACKGROUND:Adiponectin is an adipocyte-derived cytokine that has anti-inflammatory properties. A preliminary proteomic evaluation of urine for biomarkers of systemic lupus erythematosus (SLE) nephritis demonstrated high levels of adiponectin in SLE urine. This prompted investigation of adiponectin expression in human S...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2005.00601.x

    authors： Rovin BH,Song H,Hebert LA,Nadasdy T,Nadasdy G,Birmingham DJ,Yung Yu C,Nagaraja HN

    更新日期：2005-10-01 00:00:00

  • Proteinuria in rats induced by serum from patients with collapsing glomerulopathy.

    abstract：BACKGROUND:Primary collapsing glomerulopathy recurs postransplant, raising the possibility of circulating factors implicated in the pathogenesis of the disease. METHODS:To determine the presence of circulating factors in collapsing glomerulopathy patients, we tested serum from those patients in an in vivo assay. Eleve...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2004.00715.x

    authors： Avila-Casado Mdel C,Perez-Torres I,Auron A,Soto V,Fortoul TI,Herrera-Acosta J

    更新日期：2004-07-01 00:00:00

  • Results of the CARDIA study suggest that higher dietary potassium may be kidney protective.

    abstract：:The association between dietary sodium and potassium intake with the development of kidney disease remains unclear, particularly among younger individuals. Here, we determined whether dietary sodium and potassium intake are associated with incident chronic kidney disease (CKD) using data from 1,030 adults (age 23-35 i...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2020.02.037

    authors： Elfassy T,Zhang L,Raij L,Bibbins-Domingo K,Lewis CE,Allen NB,Liu KJ,Peralta CA,Odden MC,Zeki Al Hazzouri A

    更新日期：2020-07-01 00:00:00

  • Cyclosporine withdrawal and mycophenolate mofetil treatment effects on the progression of chronic cyclosporine nephrotoxicity.

    abstract：BACKGROUND:Recent clinical trials of mycophenolate mofetil (MMF) in chronic allograft nephropathy (CAN) demonstrated that the dose of cyclosporine A (CsA) is one of the critical factors in determining graft function in CAN, but the effect of MMF on chronic CsA nephropathy is undetermined. We undertook this study to eva...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2002.00400.x

    authors： Yang CW,Ahn HJ,Kim WY,Li C,Kim HW,Choi BS,Cha JH,Kim YS,Kim J,Bang BK

    更新日期：2002-07-01 00:00:00

  • Role of kidney-specific organic anion transporters in the urinary excretion of methotrexate.

    abstract：BACKGROUND:High-dose folinic acid is used to accelerate methotrexate elimination to avoid renal toxicity of the drug. The present study was carried out to examine the role of the renal organic anion transporters OAT-K1 and OAT-K2 in the urinary excretion of methotrexate, especially in the methotrexate-folinic acid resc...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2001.0600031058.x

    authors： Takeuchi A,Masuda S,Saito H,Doi T,Inui K

    更新日期：2001-09-01 00:00:00

  • Generation of renal Epo-producing cell lines by conditional gene tagging reveals rapid HIF-2 driven Epo kinetics, cell autonomous feedback regulation, and a telocyte phenotype.

    abstract：:Erythropoietin (Epo) is essential for erythropoiesis and is mainly produced by the fetal liver and the adult kidney following hypoxic stimulation. Epo regulation is commonly studied in hepatoma cell lines, but differences in Epo regulation between kidney and liver limit the understanding of Epo dysregulation in polycy...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2018.08.043

    authors： Imeri F,Nolan KA,Bapst AM,Santambrogio S,Abreu-Rodríguez I,Spielmann P,Pfundstein S,Libertini S,Crowther L,Orlando IMC,Dahl SL,Keodara A,Kuo W,Kurtcuoglu V,Scholz CC,Qi W,Hummler E,Hoogewijs D,Wenger RH

    更新日期：2019-02-01 00:00:00

  • IL-37 inhibits IL-18-induced tubular epithelial cell expression of pro-inflammatory cytokines and renal ischemia-reperfusion injury.

    abstract：:Cytokines and chemokines produced by tubular epithelial and infiltrating cells are critical to inflammation in renal ischemia-reperfusion injury. IL-37, a newly described IL-1 family member, inhibits IL-18-dependent pro-inflammatory cytokine production by its binding to IL-18 receptors and IL-18 binding protein. The p...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2014.295

    authors： Yang Y,Zhang ZX,Lian D,Haig A,Bhattacharjee RN,Jevnikar AM

    更新日期：2015-02-01 00:00:00

  • Effect of spironolactone and captopril on nitric oxide and S-nitrosothiol formation in kidney of L-NAME-treated rats.

    abstract：:Although angiotensin-converting enzyme (ACE) inhibitors are well-established drugs in the treatment of hypertension, they are not supposed to be sufficient in the inhibition of aldosterone formation. The present study analyzes the effect of aldosterone receptor antagonist, spironolactone and ACE inhibitor, captopril o...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5001513

    authors： Pechanova O,Matuskova J,Capikova D,Jendekova L,Paulis L,Simko F

    更新日期：2006-07-01 00:00:00

  • Renal function in high dose chemotherapy and autologous hematopoietic cell support treatment for breast cancer.

    abstract：:Autologous and allogeneic bone marrow grafting both require cytoreductive therapy but only the allogeneic procedure requires immunosuppressive agents. Allogeneic bone marrow transplantation has been reported to be associated with a high incidence of both renal failure and veno-occlusive disease (VOD) of the liver, the...

    journal_title：Kidney international

    pub_type： 临床试验,杂志文章

    doi：10.1038/ki.1996.405

    authors： Merouani A,Shpall EJ,Jones RB,Archer PG,Schrier RW

    更新日期：1996-09-01 00:00:00

  • Proteinase-3 mRNA expressed by glomerular epithelial cells correlates with crescent formation in Wegener's granulomatosis.

    abstract：BACKGROUND:Wegener's granulomatosis (WG) is characterized by systemic vasculitis with crescentic glomerulonephritis (CGN) and circulating autoantibodies directed against neutrophil cytoplasmic antigens (ANCA). Proteinase 3 (PR-3), a neutral serine proteinase in neutrophils implicated in the growth control of myeloid ce...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1046/j.1523-1755.2000.00100.x

    authors： Schwarting A,Hagen D,Odenthal M,Brockmann H,Dienes HP,Wandel E,Rumpelt HJ,Zum Büschenfelde KH,Galle PR,Mayet W

    更新日期：2000-06-01 00:00:00

  • Executive summary for the 2015 Annual Data Report of the China Kidney Disease Network (CK-NET).

    abstract：:Chronic kidney disease (CKD) has received increased attention as a leading public health problem worldwide. Globally surveillance systems for kidney disease are still lacking, especially in developing countries like China, which constitutes an obstacle to develop effective preventive strategies. China Kidney Disease N...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1016/j.kint.2018.11.011

    authors： Wang F,Yang C,Long J,Zhao X,Tang W,Zhang D,Bai K,Su Z,Gao B,Chu H,Wang J,Sun X,Wang S,Zuo L,Wang Y,Yu F,Wang H,Zhang L,Zhao MH

    更新日期：2019-03-01 00:00:00

  • The intensity of acidosis differentially alters the pathways of ammoniagenesis in LLC-PK1 cells.

    abstract：:Utilizing [5-15N] and [2-15N]-labeled glutamine and gas chromatography mass spectrometry methodology, we examined the pathways of ammoniagenesis under basal and acute acidotic conditions of pH 7.0 and pH 6.8, respectively. LLC-PK1 cultures were incubated for one hour with gentle rocking in a bicarbonate buffer of pH 7...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1994.137

    authors： Nissim I,Sahai A,Sandler RS,Tannen RL

    更新日期：1994-04-01 00:00:00

  • Soluble fibronectin induces chemokine gene expression in renal tubular epithelial cells.

    abstract：BACKGROUND:Increasing proteinuria in kidney disease is associated with an increased risk of renal failure. Urinary proteins such as albumin induce inflammatory signaling and gene expression in tubular epithelial cells (TECs). Fibronectin is an extracellular matrix protein that can exist in soluble form and is excreted ...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1111/j.1523-1755.2005.00667.x

    authors： Ren L,Blanchette JB,White LR,Clark SA,Heffner DJ,Tibbles LA,Muruve DA

    更新日期：2005-11-01 00:00:00

  • Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.

    abstract：:X-linked Alport syndrome (AS) associated with diffuse esophageal leiomyomatosis (DL) has been reported to be due to deletions removing the 5' ends of both the COL4A5 and COL4A6 genes, encoding the alpha 5 and alpha 6 chains of type IV collagen, respectively, whereas a variety of mutations in COL4A5 has been identified...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1995.489

    authors： Dahan K,Heidet L,Zhou J,Mettler G,Leppig KA,Proesmans W,David A,Roussel B,Mongeau JG,Gould JM

    更新日期：1995-12-01 00:00:00

  • Enhanced glomerular prostaglandin formation in experimental membranous nephropathy.

    abstract：:To determine whether the induction of immune-mediated glomerular injury influences the formation of cyclooxygenase products by glomerular cells, we determined prostaglandin E2 (PGE2) and thromboxane B2 (TXB2) (as the stable metabolite of TXA2) formation in isolated glomeruli of rats with passive Heymann nephritis (PHN...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1987.118

    authors： Stahl RA,Adler S,Baker PJ,Chen YP,Pritzl PM,Couser WG

    更新日期：1987-05-01 00:00:00

  • Localization of glutamine accumulation and tubular reabsorption in rat nephron.

    abstract：:Glutamine accumulation in rat kidney was investigated by giving large loads of gluta, mate and aspartate and measuring glutamine changes in seven completely defined portions of the nephron and in small patches from the thin limb area and from the papilla. Both glutamate and aspartate (which is partly coverted to gluta...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1978.145

    authors： Burch HB,Chan AW,Alvey TR,Lowry OH

    更新日期：1978-11-01 00:00:00

  • Progression of kidney disease: blocking leukocyte recruitment with chemokine receptor CCR1 antagonists.

    abstract：:Chronic kidney disease (CKD) is usually associated with interstitial leukocytic cell infiltrates, which may contribute to disease progression by production of proinflammatory, proapoptotic, and profibrotic mediators. Recruiting leukocytes into the kidney involves local expression of chemotactic cytokines, that is, che...

    journal_title：Kidney international

    pub_type： 杂志文章,评审

    doi：10.1038/sj.ki.5000053

    authors： Anders HJ,Ninichuk V,Schlöndorff D

    更新日期：2006-01-01 00:00:00

  • Differences in tolerance for health risk to the living donor among potential donors, recipients, and transplant professionals.

    abstract：:In organ donation, the donor, recipient, and transplant team must all accept potential health risks to the donor and any uncertainties. To gauge these risks, we surveyed general altruism and risk-taking behaviors in 112 potential donors, 111 potential recipients, and 51 transplant professionals. Next, participants ind...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.2008.65

    authors： Young A,Karpinski M,Treleaven D,Waterman A,Parikh CR,Thiessen-Philbrook H,Yang RC,Garg AX

    更新日期：2008-05-01 00:00:00

  • Upregulation of osteopontin gene expression in diabetic rat proximal tubular cells revealed by microarray profiling.

    abstract：:Progression of diabetic nephropathy appears directly related to renal tubulointerstitial injury, but the involved genes are incompletely delineated. To identify such genes, DNA microarray analysis was performed with RNA from renal proximal tubules (RPTs) of streptozotocin-induced diabetic Wistar rats, spontaneously di...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/sj.ki.5000206

    authors： Hsieh TJ,Chen R,Zhang SL,Liu F,Brezniceanu ML,Whiteside CI,Fantus IG,Ingelfinger JR,Hamet P,Chan JS

    更新日期：2006-03-01 00:00:00

  • Biosynthetic and proliferative characteristics of tubulointerstitial fibroblasts probed with paracrine cytokines.

    abstract：:Fibroblasts in parenchymal organs potentially contribute extracellular matrix to local fibrogenic processes. This contribution, in some circumstances, may be initiated by cytokines disseminated from inflammatory lesions. Different populations of fibroblasts, however, might respond distinctively to this cytokine bath d...

    journal_title：Kidney international

    pub_type： 杂志文章

    doi：10.1038/ki.1992.3

    authors： Alvarez RJ,Sun MJ,Haverty TP,Iozzo RV,Myers JC,Neilson EG

    更新日期：1992-01-01 00:00:00