Abstract:
:Atypical hemolytic uremic syndrome (aHUS) is a rare, genetic, life-threatening disease. The Global aHUS Registry collects real-world data on the natural history of the disease. Here we characterize end-stage renal disease (ESRD)-free survival, the rate of thrombotic microangiopathy, organ involvement and the genetic background of 851 patients in the registry, prior to eculizumab treatment. A sex-specific difference was apparent according to age at initial disease onset as the ratio of males to females was 1.3:1 for childhood presentation and 1:2 for adult presentation. Complement Factor I and Membrane Cofactor Protein mutations were more common in patients with initial presentation as adults and children, respectively. Initial presentation in childhood significantly predicted ESRD risk (adjusted hazard ratio 0.55 [95% confidence interval 0.41-0.73], whereas sex, race, family history of aHUS, and time from initial presentation to diagnosis, did not. Patients with a Complement Factor H mutation had reduced ESRD-free survival, whereas Membrane Cofactor Protein mutation was associated with longer ESRD-free survival. Additionally extrarenal organ manifestations occur in 19%-38% of patients within six months of initial disease presentation (dependent on organ). Thus, our real-world results provide novel insights regarding phenotypic variables and genotypes on the clinical manifestation and progression of aHUS.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Schaefer F,Ardissino G,Ariceta G,Fakhouri F,Scully M,Isbel N,Lommelé Å,Kupelian V,Gasteyger C,Greenbaum LA,Johnson S,Ogawa M,Licht C,Vande Walle J,Frémeaux-Bacchi V,Global aHUS Registry.doi
10.1016/j.kint.2018.02.029subject
Has Abstractpub_date
2018-08-01 00:00:00pages
408-418issue
2eissn
0085-2538issn
1523-1755pii
S0085-2538(18)30243-6journal_volume
94pub_type
杂志文章,多中心研究abstract:BACKGROUND:There is growing evidence pointing to an involvement of cytokines and growth factors in renal osteodystrophy. In this study, the expression of interleukin-l beta (IL-1 beta), tumor necrosis factor-alpha (TNF-alpha), transforming growth factor-beta (TGF-beta), and basic fibroblast growth factor (bFGF) in bone...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00835.x
更新日期:2003-03-01 00:00:00
abstract:BACKGROUND:We determined the effect of regional citrate versus systemic heparin anticoagulation for continuous renal replacement therapy in critically ill subjects suffering from acute renal failure who were not at high risk for hemorrhagic complications. METHODS:Between April 1999 and June 2002, 30 critically ill sub...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1523-1755.2005.00342.x
更新日期:2005-06-01 00:00:00
abstract:BACKGROUND:Although several kinds of evidence suggest that glycosaminoglycans (GAGs) and proteoglycans (PGs) may contribute to the development of beta2-microglobulin-related (Abeta2m) amyloidosis, the precise roles of these molecules for the development of Abeta2m amyloidosis are poorly understood. METHODS:We investig...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00167.x
更新日期:2003-09-01 00:00:00
abstract::Bone marrow (BM) cells are reported to contribute to the process of regeneration following myocardial infarction. The present study examined two independent clonal studies to determine the origin of bone marrow (BM)-derived cardiomyocytes. First, we transplanted single CD34(-)c-kit(+)Sca-1(+)lineage(-) side population...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1111/j.1523-1755.2005.00624.x
更新日期:2005-11-01 00:00:00
abstract::To investigate whether alpha (alpha)-adrenoceptor agonists have a stimulatory effect on the expression of the angiotensinogen (Ang) gene in opossum kidney (OK) cells, we used OK 27 cells with a fusion gene containing the 5'-flanking regulatory sequence of the rat angiotensinogen gene fused with a human growth hormone ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.277
更新日期:1995-07-01 00:00:00
abstract::Calcitonin secretion is stimulated by acute hypercalcemia. Furthermore, in the rat, the calcemic response to parathyroid hormone (PTH) is decreased by calcitonin stimulation. However, in renal failure, it is not known if an increase in the serum calcium concentration within the physiologic range of serum calcium stimu...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1991.263
更新日期:1991-10-01 00:00:00
abstract::We identified a novel mutation in the COL4A5 gene of a Japanese patient with Alport syndrome. A combination of in vitro amplification of the exons with single strand conformation polymorphisms (SSCP) analysis suggested the presence of a mutation in exon 48. Sequencing of the amplified DNA revealed a single base (T) in...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.353
更新日期:1993-11-01 00:00:00
abstract::Acid (H+) retention appears to contribute to progressive decline in glomerular filtration rate (GFR) in patients with chronic kidney disease (CKD), including some patients without metabolic acidosis. Identification of patients with H+ retention but without metabolic acidosis could facilitate targeted alkali therapy; h...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.11.033
更新日期:2019-05-01 00:00:00
abstract::Angiotensinase A (aminopeptidase A; ATA) is an angiotensin II splitting exopeptidase, which is localized in endothelial and epithelial cells of the glomerular tuft. In order to investigate the influence of a reduction in renal mass on enzyme activity, ATA activity was measured in isolated rat glomeruli five and 14 wee...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.283
更新日期:1990-11-01 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
abstract::In male Wistar rats, renal adenosine triphosphate (ATP), inorganic phosphate (Pi) and intracellular pH were measured by 31phosphorus nuclear magnetic resonance (31P NMR) and correlated with renal function before, during, and for one hour after a period of 30 to 40 minutes hemorrhagic hypotension. In animals which suff...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1986.192
更新日期:1986-09-01 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::Mesangial cells are known to secrete metalloproteinases that are capable of degrading the constituents of the GBM, and hence are potentially involved not only in the regular maintenance of the ECM components in the glomerulus, but also of contributing to any damage to these components that occurs in disease states. In...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.345
更新日期:1994-09-01 00:00:00
abstract::Recent studies suggest the presence of local angiotensin generating system in the kidney. By using in situ hybridization technique, mRNA for angiotensinogen has been shown to be present in the proximal tubule. In the present study, we have attempted to examine the production of angiotensinogen and renin-like activity ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1991.117
更新日期:1991-05-01 00:00:00
abstract::Development of physiologically relevant cellular models with strong translatability to human pathophysiology is critical for identification and validation of novel therapeutic targets. Herein we describe a detailed protocol for generation of an advanced 3-dimensional kidney cellular model using induced pluripotent ste...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.05.003
更新日期:2018-12-01 00:00:00
abstract::Large epidemiological studies clearly demonstrate that multiple episodes of acute kidney injury contribute to the development and progression of kidney fibrosis. Although our understanding of kidney fibrosis has improved in the past two decades, we have limited therapeutic strategies to halt its progression. Myofibrob...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.03.037
更新日期:2017-11-01 00:00:00
abstract::Renal involvement in von Hippel-Lindau (VHL) disease has emerged as the most prevalent cause of death in this hereditary disorder. In a group of 43 VHL patients (23 unrelated families) with renal lesions we examined whether severity of renal disease is affected by parental inheritance and VHL subtype (1, without pheoc...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1996.395
更新日期:1996-09-01 00:00:00
abstract::We have previously suggested that albumin in tubule fluid at concentrations found in the nephrotic syndrome (NS) binds furosemide, thereby diminishing diuretic effect. This mechanism may contribute to diuretic resistance in NS. If this hypothesis is correct, displacement of albumin from furosemide should restore diure...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1991.228
更新日期:1991-09-01 00:00:00
abstract:BACKGROUND:In X-linked Alport syndrome, mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen result in progressive renal failure. This nephropathy appears to relate to the arrest of a switch from an alpha 1/alpha 2 to an alpha 3/alpha 4/alpha 5 network of type IV collagen in the developing glomer...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00188.x
更新日期:1998-12-01 00:00:00
abstract::Freeze-fracture and thin-section electron microscopy and morphometry were used to characterize further the response of the rat medullary collecting duct to potassium depletion. In freeze-fracture replicas, principal cells and intercalated cells were identified based on the assumption that intercalated cells possess a ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1980.6
更新日期:1980-01-01 00:00:00
abstract::The role of immunoglobulin (Ig) Fc-macrophage cell surface receptor affinity (macrophage Fc-affinity) in determining the mediation systems responsible for immune glomerular injury has been studied. Glomerular injury was initiated in rabbits by the passive administration of immunoglobulin preparations directed against ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1989.228
更新日期:1989-10-01 00:00:00
abstract::The normal pattern of mRNA metabolism almost certainly becomes altered after uninephrectomy, especially during the first day when ribosomes accumulate in the proximal tubular cells of the remaining kidney. For example, within the first hour after nephrectomy, the fraction of newly synthesized poly(A)-deficient mRNA in...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1983.60
更新日期:1983-04-01 00:00:00
abstract:BACKGROUND:Mast cells are growth factor-rich, bone marrow-derived cells that infiltrate injured tissue where they have been implicated in the pathogenesis of progressive fibrosis. METHODS:Mast cell infiltration and the expression of related chemoattractants was examined following 5/6 nephrectomy, a model of progressiv...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00183.x
更新日期:2003-09-01 00:00:00
abstract::In uremic patients resistance to the action of insulin has been documented, but it is not known at what stage of renal disease it appears. We therefore examined 29 patients with IgA glomerulonephritis (IgAGN) and 21 patients with adult polycystic kidney disease (ADPKD) in different stages of renal failure, and in addi...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00898.x
更新日期:1998-05-01 00:00:00
abstract::Serum fibroblast growth factor 23 (FGF23) is a novel phosphaturic factor and important for the regulation of inorganic phosphate (Pi) homeostasis. In this study, we examined an acute effect of oral Pi loading on serum FGF23 levels to clarify the role in rapid adjustment of serum Pi level. We performed a randomized, do...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1038/sj.ki.5002000
更新日期:2006-12-01 00:00:00
abstract::Interstitial monocytic infiltration of the kidney occurs within hours of acute kidney injury and is an important determinant of functional decline and fibrosis. Li et al. used several surface markers to distinguish between dendritic cells and inflammatory monocytes following acute kidney injury and to identify two che...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2008.555
更新日期:2008-12-01 00:00:00
abstract:BACKGROUND:The inhibitor of apoptosis (IAP) family of proteins regulates programmed cell death triggered by various stimuli. The purpose of this investigation was to examine the expression, regulation, and function of IAP genes in cultured rat mesangial cells. METHODS:Basal and inducible expression of c-IAP1, c-IAP2, ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.060002579.x
更新日期:2001-08-01 00:00:00
abstract::During the heterologous phase of experimental anti-glomerular basement membrane (anti-GBM) nephritis, leukocyte influx peaks within hours, whereas albuminuria occurs within 1 day. In the subsequent autologous phase, endogenous anti-GBM IgG develops and albuminuria persists. Heparan sulfate (HS) proteoglycans like synd...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5002514
更新日期:2007-11-01 00:00:00
abstract:BACKGROUND:Interleukin-6 (IL-6) exerts its actions through a cell-surface receptor system that consists of two transmembrane subunits: the IL-6 binding glycoprotein gp 80 (IL-6R) and the signal-transducing component (gp 130). Soluble forms of the IL-6R (sIL-6R) are generated by shedding of the membrane-associated prote...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00181.x
更新日期:2000-07-01 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