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) insertion which was between nucleotides T 4750 and G 4751 within the methionine 1516. This mutation caused a shift in the reading frame of nine amino acids and introduced a premature termination signal that would be expected to lack about two-thirds of the noncollagenous (NC1) domain. This mutation may interfere with type IV collagen assembly leading to increased permeability and play a causative role in the glomerular basement membrane abnormality of this patient with typical Alport syndrome. Gene tracking by restriction enzyme NlaIII digestion revealed that the patient's mother is heterozygous whereas the patient's brother and one sister are normal, albeit they have hematuria and proteinuria. Without gene analysis, they would have been misdiagnosed. We propose that the diagnosis of Alport syndrome should be made on the basis of both clinical phenotypes and molecular defects.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Nakazato H,Hattori S,Matsuura T,Koitabashi Y,Endo F,Matsuda Idoi
10.1038/ki.1993.353subject
Has Abstractpub_date
1993-11-01 00:00:00pages
1091-6issue
5eissn
0085-2538issn
1523-1755pii
S0085-2538(15)58234-3journal_volume
44pub_type
杂志文章abstract::Metabolic acidosis is common in patients with chronic kidney disease, which is known to affect bone metabolism. We examined the effect of metabolic acidosis on the development of vascular and other soft-tissue calcifications in uremic rats treated with calcitriol. Extraskeletal calcification was measured in vivo, in c...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5002646
更新日期:2008-02-01 00:00:00
abstract::We investigated the effect of the potent immunosuppressive agent, FK506, on experimental glomerular thrombosis in rats by combined injections of nephrotoxic serum (NTS) and lipopolysaccharide (LPS). Either FK506 or placebo was administered intramuscularly three hours prior to injection of NTS that was followed one hou...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.207
更新日期:1994-06-01 00:00:00
abstract::Chronic kidney disease (CKD) promotes development of cardiac abnormalities and is highly prevalent in patients with heart failure, particularly in those with preserved ejection fraction. CKD is associated with endothelial dysfunction, however, whether CKD can induce impairment of endothelium-to-cardiomyocyte crosstalk...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.12.013
更新日期:2020-12-22 00:00:00
abstract:BACKGROUND:Patients on continuous ambulatory peritoneal dialysis (CAPD) are dependent on residual renal function for solute and water clearances, and this declines with time on dialysis. Loop diuretics have been postulated to slow this decline. METHODS:Sixty-one patients new to dialysis were randomly assigned to eithe...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1523-1755.2001.0590031128.x
更新日期:2001-03-01 00:00:00
abstract::Determination of serum oxalate concentration is important for the diagnosis and monitoring of hyperoxalurias, and extends to patients with all types of renal disease. Approximately 5 to 10 ml of blood is required for each test by conventional methods, and the test is not adapted for use in children. We developed a hig...
journal_title:Kidney international
pub_type:
doi:10.1038/ki.1997.505
更新日期:1997-12-01 00:00:00
abstract::In chronic serum sickness, glomerular immune complexes form, yet C57BL/6 mice do not develop glomerulonephritis unless complement factor H (CfH) is absent, indicating the relevance of complement regulation. Complement receptor 3 (CD11b) and Fcγ receptors on leukocytes, and CfH on platelets, can bind immune complexes. ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2014.373
更新日期:2015-05-01 00:00:00
abstract::The effect of the tricarboxylic acid (TCA) cycle precursor, pyruvate, on glutamine metabolism by isolated renal cortical mitochondria was assessed by quantitating its key nitrogen and carbon metabolites. When mitochondria from normal rats were incubated at pH 7.4, pyruvate (2 mM) inhibited ammonia production by almost...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1982.166
更新日期:1982-09-01 00:00:00
abstract::Suramin is a polysulfonated naphthylurea originally designed as a treatment for trypanosomiasis; but that has also been used to treat rodent models of fulminant hepatic failure and focal brain ischemia. In this study, we determined the effects of suramin on renal ischemia/reperfusion-induced acute kidney injury in mic...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2008.506
更新日期:2009-02-01 00:00:00
abstract::Fourteen subjects with persistent azotemia and normal glomerular filtration rate were studied by renal clearances and hormonal determinations to establish the nephron site of altered urea transport and the mechanism(s) responsible for their azotemia. During constant alimentary protein, urea nitrogen appearance was nor...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1987.266
更新日期:1987-11-01 00:00:00
abstract::The content of platelet activating factor (PAF) in glomeruli isolated from rats with nephrotoxic serum glomerulonephritis (NSGN) was quantified at various stages of the disease and the role of complement, platelets and neutrophils in mediating changes in glomerular PAF levels was evaluated. PAF content was assessed fo...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.40
更新日期:1990-02-01 00:00:00
abstract::Because of differences in case-mix across states, state-level case-mix-adjusted end-stage renal disease (ESRD) incident rates are reported in each United States Renal Data System Annual Data Report to make the across-state comparisons valid. The adjusted rates were estimated by the direct adjustment method, a widely u...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000299
更新日期:2006-04-01 00:00:00
abstract::We evaluated the contribution of intrarenal factors in the increased renal accumulation of bovine serum albumin (BSA) in chronic serum sickness (CSS). Renal transplantation was used to study 125I BSA uptake (single and paired label techniques) in normal and CSS kidneys exposed to the same immunologic milieu. In CSS, t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1986.244
更新日期:1986-11-01 00:00:00
abstract:BACKGROUND:It is known that inhibition of cyclooxygenase (COX) impairs the renal actions of loop diuretics. Recently, we found that cyclosporine A (CsA) inhibits renal COX-2 expression. Therefore, we examined the interferences of CsA with the renal actions of loop diuretics. METHOD:We investigated the renal effects of...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00627.x
更新日期:2004-06-01 00:00:00
abstract::The antiproteinuric effect of angiotensin converting enzyme (ACE) inhibition in insulin-dependent diabetes mellitus (IDDM) patients with diabetic nephropathy varies considerably. Therefore, we tested the potential role of an insertion (I)/deletion (D) polymorphism of the ACE gene on this early antiproteinuric responsi...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.1998.00847.x
更新日期:1998-04-01 00:00:00
abstract::Before hemodialysis, patients have an intraerythrocytic pH (pHi) and an extracellular pH, measured in whole blood (pHo), which are lower than those of healthy controls. During bicarbonate hemodialysis, pHi values continuously increase, approaching a normal value at the end of the session. Concomitantly, pHo values fol...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1989.66
更新日期:1989-03-01 00:00:00
abstract::Cardiac surgery associated-acute kidney injury (CS-AKI) occurs in 30-50% of patients undergoing surgery for congenital heart disease. Here we determine if CS-AKI is associated with chronic kidney disease (CKD) in patients with congenital heart disease. Using Danish regional population-based registries, our cohort stud...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.02.021
更新日期:2017-09-01 00:00:00
abstract::We studied the glomerular architecture in renal biopsies of 95 patients undergoing bariatric surgery for extreme obesity but whose renal function was normal. The comparison group was 40 control patients having protocol biopsies. These latter patients had normal weight and renal function, were non-diabetic, non-hyperte...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5002796
更新日期:2008-04-01 00:00:00
abstract:BACKGROUND:In inflammation, urokinase plasminogen activator (uPA) and its receptor (uPAR) play an important role in fibrinolysis and in activation and chemotaxis of neutrophils and lymphocytes. Moreover, the uPA/uPAR system is involved in processes that affect turnover of the extracellular matrix (ECM). The aim of this...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00261.x
更新日期:2003-11-01 00:00:00
abstract:BACKGROUND:Cardiovascular disease is known to be the most important complication among patients with renal failure, and oxidative stress has been proposed to play a major role as the source of such complications. Human serum albumin (HSA) is composed of human mercaptoalbumin (HMA) with cysteine residues having reducing...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00969.x
更新日期:2004-11-01 00:00:00
abstract::Antibody-mediated rejection represents the first cause of graft loss in renal transplant recipients, and it is imperative to identify appropriate tools to enable risk stratification of such patients. Lately, the usefulness of measuring complement-binding anti-human leukocyte antigen (HLA) donor-specific antibodies (DS...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2018.06.032
更新日期:2018-10-01 00:00:00
abstract:BACKGROUND:The pathophysiology of hypertension in patients with chronic kidney disease (CKD) is largely attributed to positive sodium balance. It is unclear how loop diuretics affect fluid volume compartments, especially with respect to their antihypertensive effect. METHODS:Subjects with CKD were administered a singl...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1046/j.1523-1755.2003.00273.x
更新日期:2003-11-01 00:00:00
abstract::Electron microprobe analysis on freeze-dried cryosections was used to determine the effect of the loop diuretics torasemide and furosemide on intracellular electrolyte concentrations in individual cells of the outer and inner stripe of the outer medulla and on cell rubidium uptake, the latter a measure of basolateral ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.359
更新日期:1992-10-01 00:00:00
abstract:BACKGROUND:In the rat cortical thick ascending limb (CTAL), intracellular Ca2+ ([Ca2+]i) responses to angiotensin II (Ang II) and angiotensin III (Ang III) were mediated by the Ang II subtype 1A receptor (AT1A-R), whereas the arginine vasopressin (AVP)-dependent cAMP accumulation involved the vasopressin receptor type ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2002.00366.x
更新日期:2002-06-01 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:BACKGROUND:Previous experiments from our laboratory have demonstrated that HKalpha(2) coimmunoprecipitated with beta(1)-Na(+),K(+)-ATPase. Although HKalpha(2) is expressed abundantly in the apical membrane of distal colon, the demonstration that beta(1) localizes to this same membrane in distal colon has not been demon...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00856.x
更新日期:2004-09-01 00:00:00
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
更新日期:1996-01-01 00:00:00
abstract::To determine the effect of an acute load of potassium on potassium reabsorption by the loop of Henle in chronic renal failure, the right kidney was removed and branches of the left renal artery were ligated in 17 rats. One week later and after 2 days of a potassium-free diet, rats were studied before (period 1) and af...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1985.100
更新日期:1985-06-01 00:00:00
abstract::Chronic cyclosporine (CsA) nephrotoxicity is a major complication of heart, bone marrow, and renal transplantation, and is characterized in humans by striped interstitial fibrosis, tubular dilatation and atrophy, and hyalinization of hilar arterioles. This last feature is highly specific for cyclosporine injury and ha...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.311
更新日期:1995-08-01 00:00:00
abstract::Gene expression differs substantially among individual cells of the same type. We speculate that genes that are expressed in all but a portion of cells of a given cell type would be likely essential and required for either the cell survival (housekeeping) or for the cell type's unique structure and function, enabling ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.04.022
更新日期:2017-11-01 00:00:00
abstract::From September 9 to October 3, 1994, five patients on maintenance hemodialysis in a dialysis unit in Tokyo contracted hepatitis B virus (HBV) infection successively, and four of them died of fulminant hepatitis. The unit treated 181 patients three times a week on eight shifts, and all five afflicted patients were on t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.499
更新日期:1995-12-01 00:00:00