Abstract:
BACKGROUND:Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease. Our aim was to present and discuss the clinical, biochemical, sonographic and histopathological findings in six large Cypriot families in whom molecular analysis has confirmed linkage to the MCKD1 locus on chromosome 1q21. METHODS:The clinical, biochemical, sonographic and histopathological findings in 186 members of six large Cypriot families with ADMCKD-1 are presented. Creatinine clearance was calculated according to the Cockroft-Gault formula and was corrected to a body surface area (BSA) of 1.73 m2. DNA linkage analysis was performed with previously identified flanking polymorphic markers. RESULTS:This disease is characterized by the absence of urinary findings in the vast majority of patients, leading to end-stage renal failure (ESRF) at a mean age of 53.7 years. Hypertension and hyperuricemia are common, especially in males, the former encountered more frequently in advanced chronic renal failure (CRF). Gout has been noted in a small percentage of male patients. Loss of urinary concentrating ability was not a prominent early feature of the disease, while severe natriuresis was observed in a few males toward ESRF. Renal cysts are mainly corticomedullary or medullary, and they are present in about 40.3% of patients and appear more frequently near ESRF. CONCLUSION:ADMCKD type 1 is a common cause of ESRF among our dialysis population. The disease is difficult to diagnose clinically, particularly in the early stage when renal cysts are not usually present, making them a weak diagnostic finding. A dominant pattern of inheritance and DNA linkage analysis are helpful in the diagnosis of this disease.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Stavrou C,Koptides M,Tombazos C,Psara E,Patsias C,Zouvani I,Kyriacou K,Hildebrandt F,Christofides T,Pierides A,Deltas CCdoi
10.1111/j.1523-1755.2002.kid581.xsubject
Has Abstractpub_date
2002-10-01 00:00:00pages
1385-94issue
4eissn
0085-2538issn
1523-1755pii
S0085-2538(15)48682-Xjournal_volume
62pub_type
杂志文章abstract:BACKGROUND:Podocyte loss contributes to the development of glomerulosclerosis. Although podocytes have been detected in the urine in certain glomerular diseases, the viability of detached cells is not known. METHODS:Urine was collected from rats with experimental membranous nephropathy [passive Heymann nephritis (PHN)...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00217.x
更新日期:2003-10-01 00:00:00
abstract:BACKGROUND:Susceptibility to skin cancer after transplantation is multifactorial, and risk factors include skin type, sun exposure, and level of immunosuppression. A major mechanism of carcinogenesis is ultraviolet radiation-induced free radical damage, and genetically determined ability to metabolize free radicals may...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2000.00392.x
更新日期:2000-11-01 00:00:00
abstract::Effect of insulin-like growth factor-1 (IGF) on the synthesis of glomerular proteoglycans (PGs) in an ex vivo recirculating organ perfusion system was investigated. Kidneys were perfused with a medium (approximately 80 ml) containing [35S]-sulfate (250 microCi/ml) and IGF (62.5 to 625 ng/ml). After radiolabeling, a sm...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.188
更新日期:1992-05-01 00:00:00
abstract::Patients receiving hemodialysis have high rates of cardiovascular morbidity and mortality that may be related to the hemodynamic effects of rapid ultrafiltration. Here we tested whether higher dialytic ultrafiltration rates are associated with greater all-cause and cardiovascular mortality, and hospitalization for car...
journal_title:Kidney international
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1038/ki.2010.383
更新日期:2011-01-01 00:00:00
abstract::We studied the effect of three antihypertensive drugs on the growth of glomeruli in four- to five-week-old Munich-Wistar rats (N = 24), which were undergoing rapid maturation processes. Young rats were given an angiotensin converting enzyme inhibitor (ACEI, enalapril, 50 mg/liter drinking water), verapamil (50 mg/lite...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.314
更新日期:1990-12-01 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::Heterozygous mutations of the tissue-specific transcription factor hepatocyte nuclear factor (HNF)1beta, cause maturity onset diabetes of the young (MODY5) and kidney anomalies including agenesis, hypoplasia, dysplasia and cysts. Because of these renal anomalies, HNF1beta is classified as a CAKUT (congenital anomalies...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2008.149
更新日期:2008-07-01 00:00:00
abstract::Unidirectional 32P-phosphate and 3H-mannitol fluxes were simultaneously measured, at two minutes intervals, in frog urinary bladders. The spontaneous or externally imposed transepithelial potential (PD) and short circuit current (SCC) were also recorded in most experiments. It was observed that: (1) Phosphate transfer...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1988.9
更新日期:1988-01-01 00:00:00
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
更新日期:2008-02-01 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:BACKGROUND:Metabolic acidosis caused by increased rates of fixed acid production is associated with increased urinary excretion of Ca and negative Ca balances. Metabolic acidosis caused by a reduced capacity of the kidneys to excrete acid contributes to the development of bone disease in the course of chronic renal fai...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00282.x
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Renal inflammation is regulated by a network of local and systemic mediators. Of them, transforming growth factor-beta1 (TGF-beta 1) and glucocorticoids play an important role in deactivating monocytes/macrophages. We examined the hypothesis that TGF-beta 1 effects may be partially achieved through modulatio...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.63.6s.3.x
更新日期:2003-06-01 00:00:00
abstract::Activation of cAMP signaling pathway was shown to inhibit some pathobiologic processes in mesangial cells (MC). We investigated whether adrenomedullin (ADM), a potent agonist of adenylate cyclase, is synthesized in MC and whether it can, via cAMP, suppress the generation of reactive oxygen metabolites (ROM) and prolif...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.413
更新日期:1997-10-01 00:00:00
abstract::Neutrophil (PMN) recruitment into the peritoneum during acute bacterial peritonitis is an important part of the host defense barrier in CAPD patients. However, the subsequent phagocytosis of bacteria may also lead to PMN degranulation and the release of lysosomal enzymes. We determined the concentration of neutrophil ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.216
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND:Arteriovenous (AV) fistulas used for hemodialysis access may affect cardiac load by increasing the preload while decreasing the afterload. In dogs, AV fistulas have also been shown to affect coronary perfusion negatively. We investigated the net effect of AV fistulas on cardiac oxygen supply and demand. MET...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00433.x
更新日期:1999-05-01 00:00:00
abstract::The present study was undertaken to evaluate some pathophysiological mechanisms of edema formation in diabetic nephropathy. Sixty-three subjects were investigated: 9 normal subjects (I), 9 normoalbuminuric Type 1 (insulin-dependent) diabetic patients (II), 15 microalbuminuric Type 1 diabetic patients (III), 16 Type 1 ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.332
更新日期:1990-12-01 00:00:00
abstract::The OSCAR study was a multicenter, prospective randomized open-label blinded end-point study of 1164 Japanese elderly hypertensive patients comparing the efficacy of angiotensin II receptor blocker (ARB) uptitration to an ARB plus calcium channel blocker (CCB) combination. In this prospective study, we performed presp...
journal_title:Kidney international
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1038/ki.2012.326
更新日期:2013-01-01 00:00:00
abstract::Organomercurial diuretics stimulate renin secretion although the underlying cellular mechanisms remain undefined. Since organomercurials are also known to react with sulfhydryl groups, the present studies determined the effects of sulfhydryl reagents on renin secretion. The effects of the non-diuretic mercurial agent,...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1989.57
更新日期:1989-03-01 00:00:00
abstract:BACKGROUND:The peritoneum is progressively denuded of its mesothelial cell monolayer in patients on continuous ambulatory peritoneal dialysis (CAPD). These alterations of the mesothelium cause membrane dysfunction and progressive peritoneal fibrosis. Integrins regulate cell motility and play an important role in wound ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2003.00772.x
更新日期:2003-02-01 00:00:00
abstract::Low nephron number has been related to low birth weight and hypertension. In the southeastern United States, the estimated prevalence of chronic kidney disease due to hypertension is five times greater for African Americans than white subjects. This study investigates the relationships between total glomerular number ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000041
更新日期:2006-02-01 00:00:00
abstract::A major contributor to the development and progression of ischemia-reperfusion (IR)-induced acute renal failure (ARF) is the loss of functioning tubular epithelial cells by means of various cell deletion or death processes. Although the term "acute tubular necrosis" is still used to describe the pathology of ARF, this...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00701.x
更新日期:1999-10-01 00:00:00
abstract::Mitochondria are critical in determining a cell's energy homeostasis and fate, and mitochondrial dysfunction has been implicated in the pathogenesis of chronic kidney disease (CKD). We sought to identify causative mitochondrial microRNAs. A microarray screen of kidney tissue from healthy mice identified 97 microRNAs t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.12.028
更新日期:2019-06-01 00:00:00
abstract::In this mini review, we would like to challenge the well-established 'fact' that lead exposure causes chronic renal failure (CRF). Even though only scarce evidence exists of the relationship between lead and renal failure, a World Health Organization Environmental Health Criteria document summarizes that 'Lead has bee...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.2010.394
更新日期:2011-02-01 00:00:00
abstract:BACKGROUND:Studies in animal models have shown that the alternative pathway of complement is activated in the kidney after ischemia/reperfusion. In addition, mice deficient in complement factor B, a necessary component of the alternative pathway, are protected from ischemic acute renal failure. The purpose of this stud...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2005.67109.x
更新日期:2005-02-01 00:00:00
abstract::Intravenous conjugated estrogens reduce the prolonged bleeding time in uremic patients and in a rat model of uremia. However, estrogens have major side effects related to their hormonal activity. We investigated whether a beta-resorcylic acid lactone, zeranol (a compound with close spatial similarity to estrogens but ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.172
更新日期:1990-07-01 00:00:00
abstract::Progressive renal fibrosis is the final common pathway leading to renal failure irrespective of the initiating cause. Clinical studies of renal fibrosis found that prominent mast cell accumulation correlated with worse outcomes. Mast cells are pluripotent innate immune cells that synthesize and secrete profibrotic med...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2012.211
更新日期:2012-09-01 00:00:00
abstract::The treatment of hyperphosphatemia remains challenging in patients receiving hemodialysis. This Phase 1b study assessed safety and efficacy of EOS789, a novel pan-inhibitor of phosphate transport (NaPi-2b, PiT-1, PiT-2) on intestinal phosphate absorption in patients receiving intermittent hemodialysis therapy. Two cro...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.09.035
更新日期:2020-10-30 00:00:00
abstract::Screening for chronic kidney disease is recommended in people at high risk, but data on the independent and combined associations of estimated glomerular filtration rate (eGFR) and albuminuria with all-cause and cardiovascular mortality are limited. To clarify this, we performed a collaborative meta-analysis of 10 coh...
journal_title:Kidney international
pub_type: 杂志文章,meta分析
doi:10.1038/ki.2010.536
更新日期:2011-06-01 00:00:00
abstract::NO, a simple molecule synthesized from L-arginine by NO synthases, has been identified to play an important role in cell communication, cell defense and cell injury. The half life of NO is very short because NO either reacts with superoxide anion (O2-), and/or binds to heme molecules or Fe-S groups present in proteins...
journal_title:Kidney international
pub_type: 社论,评审
doi:10.1038/ki.1995.262
更新日期:1995-07-01 00:00:00
abstract::Substantial evidence implicates impaired renal excretion of sodium as the major culprit in the pathogenesis of hypertension. The key question is: How does the impairment of Na+ excretion lead to increased peripheral vascular resistance and elevation of the blood pressure? Here we describe the evidence that elevated le...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.1996.260
更新日期:1996-06-01 00:00:00