Abstract:
:Nephronophthisis is an autosomal recessive chronic tubulointerstitial disease that progresses to end-stage renal disease (ESRD) in about 10% of cases during infancy. Mutations in the INVS (NPHP2) gene were found in a few patients with infantile nephronophthisis. Mutations of NPHP3, known to be associated with adolescent nephronophthisis, were found in two patients with early-onset ESRD. Here we screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations. In this cohort there were 16 families with NPHP2 mutations and NPHP3 mutations in seven. Three patients carried only one heterozygous mutation in NPHP3. ESRD arose during the first 2 years of life in 16 of 18 patients with mutations in NPHP2, but in only two patients with mutations in NPHP3. Renal morphology, characterized by hyper-echogenic kidneys on ultrasound and tubular lesions with interstitial fibrosis on histology, was similar in the two patient groups. The kidney sizes were highly diverse and ultrasound-visualized cysts were present in a minority of cases. Extra-renal anomalies were found in 80% of the entire cohort including hepatic involvement (50%), cardiac valve or septal defects (20%) and recurrent bronchial infections (18%). We show that NPHP3 mutations in both infantile and adolescent nephronophthisis point to a common pathophysiological mechanism despite their different clinical presentations.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Tory K,Rousset-Rouvière C,Gubler MC,Morinière V,Pawtowski A,Becker C,Guyot C,Gié S,Frishberg Y,Nivet H,Deschênes G,Cochat P,Gagnadoux MF,Saunier S,Antignac C,Salomon Rdoi
10.1038/ki.2008.662subject
Has Abstractpub_date
2009-04-01 00:00:00pages
839-47issue
8eissn
0085-2538issn
1523-1755pii
S0085-2538(15)53784-8journal_volume
75pub_type
杂志文章abstract::The genomic action of calcitriol is mediated through the interaction of the calcitriol receptor (VDR) with vitamin D response elements (VDREs) of the target genes. We have shown that the interaction of VDRs with VDREs is inhibited by uremic toxins. We hypothesize that uremic toxins form Schiff bases with the lysine re...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1996.469
更新日期:1996-11-01 00:00:00
abstract::Propofol has been shown to provide protection against renal ischemia/reperfusion injury experimentally, but clinical evidence is lacking. Here we studied the effect of propofol anesthesia on the occurrence of acute kidney injury following heart surgery with cardiopulmonary bypass. One hundred and twelve patients who u...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1038/ki.2013.532
更新日期:2014-08-01 00:00:00
abstract::Protein-bound uremic toxins (PBUTs) accumulate in chronic kidney disease (CKD) and are poorly removed by dialysis. Gryp et al. demonstrated that fecal bacteria from patients with CKD do not produce more PBUTs than do those from healthy controls and that the accumulation of PBUTs, as CKD progresses, is mainly due to th...
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abstract::LECT2 amyloidosis is the latest systemic type of amyloidosis to be described. It was discovered in patients with nephrotic syndrome and renal failure and is characterized by amyloid deposition in glomeruli, renal vessels, and interstitium. Clinical and pathological features of earlier phases of this type of amyloidosi...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2010.18
更新日期:2010-05-01 00:00:00
abstract::Alterations in myocardial wall texture stand out among ADPKD cardiovascular manifestations in hypertensive and normotensive patients. To elucidate their pathogenesis, we analyzed the cardiac phenotype in Pkd1(cond/cond)Nestin(cre) (CYG+) cystic mice exposed to increased blood pressure, at 5 to 6 and 20 to 24 weeks of ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.04.028
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Urine is supersaturated in calcium oxalate, which means that it will contain calcium oxalate crystals that form spontaneously. Their size must be controlled to prevent retention in ducts and the eventual development of a lithiasis. This is achieved, in part, by specific inhibitors of crystal growth. We inves...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00426.x
更新日期:1999-05-01 00:00:00
abstract::Kidney-targeted gene therapy could be an ideal treatment for renal diseases since the therapeutic molecule is limited in the kidney and the systemic effect may be minimized. The technical development of the gene delivery to kidney and the identification of the responsive gene for a particular disease encourage the cha...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1111/j.1523-1755.2004.05409.x
更新日期:2004-05-01 00:00:00
abstract::Dialysis patients have a high risk of cardiovascular disease. Cardiac rehabilitation is recommended in the general population as a standard component of care and covered by Medicare for those who have undergone coronary artery bypass grafting (CABG). Here we determined the impact of cardiac rehabilitation on Medicare ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2008.381
更新日期:2008-10-01 00:00:00
abstract::The profibrotic adhesion molecule, osteopontin (OPN), is upregulated in kidneys of humans and mice with diabetes. The thiazolidinedione (TZD) insulin sensitizers decrease albuminuria in diabetic nephropathy (DN) and reduce OPN expression in vascular and cardiac tissue. To examine whether OPN is a critical mediator of ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2009.518
更新日期:2010-04-01 00:00:00
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journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2009.168
更新日期:2009-09-01 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:BACKGROUND:Inhibition of angiotensin action, pharmacologically or genetically, during the neonatal period leads to renal anomalies involving hypoplastic papilla and dilated calyx. Recently, we documented that angiotensinogen (Agt -/-) or angiotensin type 1 receptor nullizygotes (Agtr1 -/-) do not develop renal pelvis n...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00420.x
更新日期:1999-05-01 00:00:00
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
更新日期:1998-12-01 00:00:00
abstract:BACKGROUND:Peritoneal sclerosis, characterized by collagen accumulation, is a serious complication in continuous ambulatory peritoneal dialysis (CAPD) therapy. Heat shock protein 47 (HSP47) is a collagen-specific molecular chaperon and is closely associated with collagen synthesis. METHODS:We determined the expression...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00883.x
更新日期:2000-02-01 00:00:00
abstract::Studies were undertaken to examine the mechanism whereby changes in intraluminal flow rates after reabsorption in the isolated perfused proximal tubule of the rabbit. All protocols employed the technique of in vitro perfusion of isolated segments of the proximal convoluted tubule. Stepwise elimination of d-glucose and...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1977.3
更新日期:1977-01-01 00:00:00
abstract:BACKGROUND:The Banff working formulation of renal transplant pathology is intended to have international application. There remains a need to develop methods to harmonize the application of such grading systems between laboratories. Banff grades do not always permit precise management decisions to be made. Alternative ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.00030.x
更新日期:2001-11-01 00:00:00
abstract::Observational studies are valuable and provocative. We are learning about how we practice peritoneal dialysis (PD) and how we might improve on that practice. For example, outcomes of PD therapy are not worse in large patients. Perhaps this will encourage physicians and patients to utilize PD in large patients. In addi...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2009.65
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:Cardiovascular death continues to be a major problem in renal failure. Structural abnormalities of the heart and the vasculature contribute to the increased cardiovascular risk. They are ameliorated by angiotensin-converting enzyme (ACE) inhibitors, but because of the nonspecifity of ACE inhibition, it is un...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00163.x
更新日期:2000-07-01 00:00:00
abstract::Diabetes mellitus is associated with natriuresis, whereas estrogen has been shown to be renoprotective in diabetic nephropathy and may independently regulate renal sodium reabsorption. The aim of this study was to determine the effects of 17-beta estradiol (E(2)) replacement to diabetic, ovariectomized (OVX) female ra...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000140
更新日期:2006-02-01 00:00:00
abstract::Functional and morphological changes developed rapidly in rats after the intravenous administration of the organic nephrotoxin p-aminophenol. Proximal intratubular pressure remained close to its mean control value of 14.9 +/- 0.9 mm Hg up to 40 min after injection of the nephrotoxin then rose rapidly over the followin...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1983.221
更新日期:1983-12-01 00:00:00
abstract:BACKGROUND:It is currently impossible to reliably predict which diabetic patients will develop nephropathy and progress to kidney failure. Microalbuminuria, often regarded as a predictor of overt diabetic renal disease is, in fact, an indicator of established glomerular damage. We have shown that glomerular expression ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00130.x
更新日期:2003-08-01 00:00:00
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journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.198
更新日期:1995-05-01 00:00:00
abstract::The erythropoietin analogs have been an important advance for the treatment of the anemia of kidney disease, resulting in reduced need for blood transfusion and improved quality of life. Recent studies, however, have indicated risks associated with targeting higher levels of hemoglobin (Hb). As a result, in March 2007...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/sj.ki.5002401
更新日期:2007-10-01 00:00:00
abstract::Early identification of kidney transplant recipients at risk of progressive allograft dysfunction may allow clinicians to provide closer monitoring and more aggressive risk factor modification. In this issue, Raynaud et al. presented a latent class model that clustered kidney transplant recipients into 8 risk categori...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2020.07.031
更新日期:2021-01-01 00:00:00
abstract::It is unknown whether mild chronic kidney disease (CKD) is associated with adverse cardiovascular (CV) prognosis after accounting for coronary artery disease (CAD). Here we evaluated the interplay between CKD and CAD in predicting CV death or myocardial infarction (MI) and all-cause death. We included 1541 consecutive...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2014.426
更新日期:2015-07-01 00:00:00
abstract:BACKGROUND:Tubulointerstitial inflammation and fibrosis are pathologic hallmarks of end-stage renal disease (ESRD). Here we have used DNA microarray technology to monitor the transcriptomic responses to murine unilateral ureteral obstruction (UUO) with a view to identifying molecular modulators of tubulointerstitial fi...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00306.x
更新日期:2003-12-01 00:00:00
abstract::The primary goal of this study was to determine if the ability to undergo catch-up growth following a transient injury is preserved in an experimental model of moderate chronic renal failure (CRF) and the effect of growth hormone (GH) administration on such phenomenon. Young rats were subtotally nephrectomized (days 0...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5001949
更新日期:2006-12-01 00:00:00
abstract::The pathogenesis of the multiple structural lesions in diabetic nephropathy remains debated, and likely is multifactorial. The uniform thickening of the renal basement membranes lining the glomerular and tubular elements appears to be a consequence of the metabolic perturbations which are directly related to hyperglyc...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.1993.19
更新日期:1993-01-01 00:00:00
abstract::The ankyrin repeat and sterile α motif (SAM) domain-containing six gene (Anks6) is a candidate for polycystic kidney disease (PKD). Originally identified in the PKD/Mhm(cy/+) rat model of PKD, the disease is caused by a mutation (R823W) in the SAM domain of the encoded protein. Recent studies support the etiological r...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2015.122
更新日期:2015-08-01 00:00:00
abstract::Mutations in the NPHS2 gene, encoding podocin, are responsible for familial autosomal recessive and sporadic cases of steroid-resistant nephrotic syndrome. We have successfully generated a mouse model in which the common p.R138Q mutation found in nephrotic patients is expressed in the kidney. Homozygous mice express t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2008.27
更新日期:2008-05-01 00:00:00