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 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients with FSGS. A secondary objective was to define an approach for genetic screening in families with autosomal dominant disease. A total of 248 individuals were identified with FSGS, of whom 31 had idiopathic disease. The remaining patients clustered into 64 families encompassing 15 from autosomal recessive and 49 from autosomal dominant kindreds. There were missense mutations in 8 of the 49 families with autosomal dominant disease. Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations. Thus, in our series, INF2 mutations were responsible for 16% of all cases of autosomal dominant FSGS, with these mutations clustered in exon 4. Hence, screening for these mutations may represent a rapid, non-invasive and cost-effective method for the diagnosis of autosomal dominant FSGS.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
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 MPdoi
10.1038/ki.2011.297subject
Has Abstractpub_date
2012-01-01 00:00:00pages
94-9issue
1eissn
0085-2538issn
1523-1755pii
S0085-2538(15)55175-2journal_volume
81pub_type
杂志文章abstract::Acute kidney injury (AKI) occurs in about half of patients in septic shock and the mortality of AKI with sepsis is extremely high. An effective therapeutic intervention is urgently required. Statins are 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors that also have pleiotropic actions. They have been report...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000300
更新日期:2006-05-01 00:00:00
abstract::Chronic metabolic acidosis (CMA) is a major cause of growth defect, implying disturbances of protein metabolism. Previously, in vivo studies performed in the fasting state showed enhanced whole body protein turnover, whereas in vitro studies showed unchanged muscle protein synthesis. The present study is the first to ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.472
更新日期:1994-12-01 00:00:00
abstract::One of the challenges of treating patients with glomerulonephritis is to accurately assess disease activity. As renal biopsies are routinely stained for deposits of C3 activation fragments and glomerular C3 deposits are found in most forms of glomerulonephritis, we sought to determine whether a relatively noninvasive ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2011.332
更新日期:2012-01-01 00:00:00
abstract::Highly presensitized patients wait longer for a renal allograft than unsensitized patients and have a poorer allograft survival rate. Repeated blood transfusions have been implicated in the induction and maintenance of sensitization. To determine the effect of recombinant human erythropoietin (rHuEPO) therapy on five ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.161
更新日期:1990-07-01 00:00:00
abstract::Diagnosis and treatment of atherosclerotic renal artery stenosis (ARAS) in the elderly is a never-ending challenge for every nephrologist. Kalra et al. report that adjusted hazard ratios for ARAS increased threefold from 1992 to 2004 in 16 million United States Renal Data System participants aged 66 years or older. Ho...
journal_title:Kidney international
pub_type: 信件
doi:10.1038/ki.2009.326
更新日期:2010-01-01 00:00:00
abstract::Expression of the polycystin-1 C-terminal cytoplasmic tail increases Cl(-) channel activity in Xenopus oocytes. Background. Cyst expansion in autosomal-dominant polycystic kidney disease (ADPKD) is characterized by active Cl(-) secretion in excess of solute reabsorption. However, the connections between elevated epith...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2005.00441.x
更新日期:2005-08-01 00:00:00
abstract::Complement factor 5a (C5a) interaction with its receptor (C5aR1) contributes to the pathogenesis of inflammatory diseases, including acute kidney injury. However, its role in chronic inflammation, particularly in pathogen-associated disorders, is largely unknown. Here we tested whether the development of chronic infla...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.04.023
更新日期:2016-09-01 00:00:00
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
更新日期:2006-01-01 00:00:00
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
更新日期:2004-05-01 00:00:00
abstract::IgA nephropathy (IgAN) is the most prevalent primary chronic glomerular disease for which no safe disease-specific therapies currently exist. IgAN is an autoimmune disease involving the production of autoantigenic, aberrantly O-glycosylated IgA1 and ensuing deposition of nephritogenic immune complexes in the kidney. A...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2019.01.031
更新日期:2019-07-01 00:00:00
abstract::Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with isolated congenital nephrotic syndrome, we identified a potential candidate region on chromosome 3p...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5001679
更新日期:2006-09-01 00:00:00
abstract::A genome-wide association study (GWAS) indicated that myeloperoxidase-ANCA associated vasculitis (AAV) is associated with HLA-DQ. However, susceptibility alleles in these loci have been under-investigated. Here we genotyped 258 Chinese patients with myeloperoxidase-AAV and 597 healthy control individuals at HLA DRB1, ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2019.06.015
更新日期:2019-10-01 00:00:00
abstract::A new study in dialysis patients demonstrates that more than one-third of rehospitalizations within 30 days of discharge occur within the first week, and these rehospitalizations are associated with worse survival. Imposing a penalty on the dialysis provider for these rehospitalizations, as mandated by the Hospital Re...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2017.04.046
更新日期:2017-10-01 00:00:00
abstract::Renal fibrosis is a common pathway leading to the progression of chronic kidney disease, and bone marrow-derived fibroblasts contribute significantly to the development of renal fibrosis. However, the signaling mechanisms underlying the activation of these fibroblasts are not completely understood. Here, we examined t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.04.021
更新日期:2017-12-01 00:00:00
abstract::The contractile properties of recombinant human erythropoietin (rHuEPO) on isolated resistance vessels of renal and mesenteric vascular beds were studied in an in vitro model using a small vessel myograph. Under isometric conditions, rHuEPO caused a contraction of this vasculature in a concentration range between 10 U...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1991.31
更新日期:1991-02-01 00:00:00
abstract::Hypocalcemia, hyperphosphatemia, and resistance to the action of PTH are well characterized features in the setting of advanced chronic renal failure (CRF). Although the underlying mechanisms are ill-understood, clinical and experimental evidence points to both PTH receptor down-regulation and post-receptor abnormalit...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.79
更新日期:1994-02-01 00:00:00
abstract::Healthy male rats were exposed to a chronic ingesta of an isotonic NaCl solution during a period of four months. Two different preparations were utilized to study the effect of this treatment on the active mechanisms of Na+ reabsorption of kidney proximal tubular cells: outermost kidney cortex slices (rich in proximal...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1986.216
更新日期:1986-10-01 00:00:00
abstract::Innate lymphoid cells are a recently recognized group of immune cells with critical roles in tissue homeostasis and inflammation. Regulatory innate lymphoid cells are a newly identified subset of innate lymphoid cells, which play a suppressive role in the innate immune response, favoring the resolution of intestinal i...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2019.07.019
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:While an understanding of the epidemiology and clinical course of HIV-associated nephropathy (HIVAN) is growing, little is known about the risk factors and clinical course of the other renal diseases that may also occur as a complication of HIV infection. This study was undertaken to compare HIVAN to the spe...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00865.x
更新日期:2004-09-01 00:00:00
abstract:BACKGROUND:Guidelines for treating anemia in dialysis patients accept, as high-end range of serum ferritin useful to optimize erythropoietin therapy, values high as 500 to 900 microg/L, on the hypothesis that ferritin might be not representative of iron overload. METHODS:A superconducting quantum interference device (...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00480.x
更新日期:2004-03-01 00:00:00
abstract::Autophagy is upregulated during ischemia-reperfusion (IR)-induced and cisplatin-induced acute kidney injury (AKI). Proximal tubule-specific Atg7 knockout mice exhibited increased renal injury compared with wild-type mice following cisplatin- and IR-induced AKI. Inhibition of autophagy by chloroquine aggravated AKI, wh...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2012.337
更新日期:2012-12-01 00:00:00
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
更新日期:2010-09-01 00:00:00
abstract::The renal 11beta-hydroxysteroid dehydrogenase type 2 (11betaHSD2) enzyme inactivates 11-hydroxy steroids in the kidney, thus protecting the nonselective mineralocorticoid receptor (MR) from occupation by glucocorticoids. The gene is highly expressed in all sodium-transporting epithelia, but also in human placenta, pan...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1046/j.1523-1755.2000.00978.x
更新日期:2000-04-01 00:00:00
abstract:BACKGROUND:Among the members of the small leucine-rich proteoglycan family, decorin, biglycan, and fibromodulin have been proposed to be potent modulators of transforming growth factor-beta (TGF-beta) activity, thereby playing an important role in the pathogenesis of fibrotic kidney diseases. Furthermore, decorin expre...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00317.x
更新日期:2000-10-01 00:00:00
abstract::Recipients of kidney transplants have elevated cancer risk compared with the general population. Improvements over time in transplant care and cancer treatment may have affected incidence and outcomes of cancer among recipients of kidney transplant. To evaluate this, we used linked United States transplant and cancer ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.10.018
更新日期:2020-11-04 00:00:00
abstract::Horvat and coauthors report on trends in living kidney transplantation in 69 countries, having assembled the data from registries, national societies, the medical literature, and direct contact with transplant centers. Assembling worldwide data on live-donor kidney transplants is a commendable accomplishment that serv...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2009.23
更新日期:2009-05-01 00:00:00
abstract::Changes in macula densa intracellular pH (pHi) were used to monitor the direction of flux mediated by the apical Na:2Cl:K cotransporter. At the macula densa, a decrease in luminal [Cl] ([Cl]1) from 60 to 1 mM produced cellular alkalinization secondary to a cascade of events involving a decrease in apical Na:2Cl:K cotr...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.115
更新日期:1995-03-01 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::Patients with chronic renal failure frequently have hypogonadism. To elucidate the molecular mechanisms involved, we tested the ability of serum from these patients to inhibit recombinant human luteinizing hormone receptors. Using a cell line expressing functional human luteinizing hormone receptors, we found that ade...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.109
更新日期:1997-03-01 00:00:00
abstract::From the urine of patients with calcium nephrolithiasis, and of control subjects, we isolated organic substances according to molecular size and tested them for effects on calcium oxalate precipitation. Nine subgroup materials of varying sizes were prepared by ultrafiltration and Sephadex G-200 column chromatography f...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1982.33
更新日期:1982-02-01 00:00:00