Abstract：
:X-linked Alport syndrome (AS) associated with diffuse esophageal leiomyomatosis (DL) has been reported to be due to deletions removing the 5' ends of both the COL4A5 and COL4A6 genes, encoding the alpha 5 and alpha 6 chains of type IV collagen, respectively, whereas a variety of mutations in COL4A5 has been identified in patients with AS alone. Here we report three additional DL-AS patients who also display deletions removing the 5' ends of both COL4A5 and COL4A6 genes. Furthermore, we tracked the mutation in 15 females belonging to six DL-AS families by gene copy number determination. We found that, like AS, DL is transmitted as an X-linked dominant trait but, contrary to AS, DL is fully penetrant and completely expressed in females. These results are in agreement with our previous work suggesting that DL could be due to a dominant effect of an abnormal alpha 6 (IV) collagen chain. Finally, we have detected a similar deletion of the COL4A5 and COl4A6 genes in a DL affected female who showed no sign of nephropathy, demonstrating the AS carrier status of this DL patient. These results emphasize the importance of molecular analysis of female DL patients for genetic counseling.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Dahan K,Heidet L,Zhou J,Mettler G,Leppig KA,Proesmans W,David A,Roussel B,Mongeau JG,Gould JMdoi
10.1038/ki.1995.489subject
Has Abstract,Author List Incompletepub_date
1995-12-01 00:00:00pages
1900-6issue
6eissn
0085-2538issn
1523-1755pii
S0085-2538(15)59261-2journal_volume
48pub_type
杂志文章abstract：:Urinary exosomes have received considerable attention as a potential biomarker source for the diagnosis of renal diseases. Notwithstanding, their use in protein biomarker research is hampered by the lack of efficient methods for vesicle isolation, lysis, and protein quantification. Here we report an improved ultracent...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.2012.25
更新日期：2012-06-01 00:00:00
abstract：:Renal toxicity, possibly due to vasoconstriction and vascular injury, is the most relevant side-effect of chronic cyclosporine (CsA) therapy given to prevent graft rejection. In kidney transplant recipients each oral dose of CsA is invariably followed by a transient reduction in renal plasma flow (RPF) and glomerular ...
journal_title：Kidney international
pub_type： 临床试验,杂志文章
doi：10.1038/ki.1993.101
更新日期：1993-03-01 00:00:00
abstract：:The transforming growth factor-beta (TGF-beta) plays a central role in the progression of renal fibrosis. TGF-beta transduces its signal through the activin receptor-like kinase (ALK)5. IN-1130, a novel small molecule ALK5 inhibitor, inhibited the purified kinase domain of ALK5-mediated Smad3 phosphorylation with an I...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/sj.ki.5001775
更新日期：2006-10-01 00:00:00
abstract：:Renal ischemia-reperfusion injury is a leading cause of acute kidney injury; the pathogenesis of which remains poorly understood and effective therapies are still lacking. Here we tested whether microRNAs, identified as critical regulators of cell health and disease, are involved in this process. We found that miR-17-...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1016/j.kint.2016.07.017
更新日期：2017-01-01 00:00:00
abstract：:Patients with ileostomy typically have recurrent renal stones and produce scanty, acidic, sodium-poor urine because of abnormally large enteric losses of water and sodium bicarbonate. Here we used a combination of intra-operative digital photography and biopsy of the renal papilla and cortex to measure changes associa...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.2009.321
更新日期：2009-11-01 00:00:00
abstract：:The possibility that hypercalciuria could cause calcium stone formation through a mechanism other than by increasing urinary saturation of stone-forming calcium salts was explored. The effect of increasing calcium concentration on the inhibitor activity against the spontaneous precipitation of calcium oxalate was exam...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1988.100
更新日期：1988-05-01 00:00:00
abstract：:Whole cerebral and isolated mitochondrial calcium levels were determined in normal and chronically uremic Sprague-Dawley rats. Uremia was induced by a two-stage 5/6 nephrectomy 4 weeks prior to study. Serum was obtained for urea, calcium, magnesium, phosphate, and i-PTH. Mitochondria were isolated by gradient centrifu...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1985.42
更新日期：1985-03-01 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
abstract：:The role of calcitonin on the calcemic response to parathyroid hormone (PTH) in renal failure has not been evaluated previously. Often animal studies evaluating the calcemic response to PTH in renal failure are performed in thyroparathyroidectomized (TPTX) animals, and thus eliminate any potential physiologic effect o...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1991.203
更新日期：1991-08-01 00:00:00
abstract：BACKGROUND:The link between dialysis "vintage" (length of time on dialysis in months to years) and survival has been difficult to define, largely because of selection effects. End-stage renal disease (ESRD) is thought to be a wasting illness, but there are no published reports describing the associations between vintag...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.2000.00945.x
更新日期：2000-03-01 00:00:00
abstract：BACKGROUND:Bone marrow reconstitution using genetically-modified hematopoietic stem cells has been reported to confer resistance to inflammation and prevent renal injury in glomerulonephritis. Although this strategy has potentials for clinical use, taking hematopoietic stem cells from bone marrow is highly stressful fo...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.2003.00046.x
更新日期：2003-07-01 00:00:00
abstract：:Experiments in rodents have demonstrated an important role for selectins in kidney ischemia-reperfusion injury (IRI). However, the relevance of this in larger mammals, as well as the impact on long-term structure and function is unknown. We tested the hypothesis that small molecule selectin ligand inhibition attenuate...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/sj.ki.5000335
更新日期：2006-05-01 00:00:00
abstract：:Anthropometric measurements and circulating growth factors were studied serially in 44 prepubertal children with growth failure and chronic renal failure (GFR = 10 to 40 ml/min/1.73 m2) who were randomized to receive either recombinant human growth hormone (rhGH; N = 30) or no treatment (N = 14). RhGH was given as Nut...
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.1997.268
更新日期：1997-06-01 00:00:00
abstract：:Diabetes is a major cause of chronic kidney disease, and oral antidiabetic drugs are the mainstay of therapy for most patients with Type 2 diabetes. Here we evaluated their role on renal outcomes by using a national Veterans Administration database to assemble a retrospective cohort of 93,577 diabetic patients who fil...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.2011.444
更新日期：2012-04-01 00:00:00
abstract：:Progressive kidney fibrosis precedes end-stage renal failure in up to a third of patients with diabetes mellitus. Elevated intra-renal transforming growth factor-beta (TGF-beta) is thought to underlie disease progression by promoting deposition of extracellular matrix and epithelial-mesenchymal transition. GW788388 is...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/sj.ki.5002717
更新日期：2008-03-01 00:00:00
abstract：:Obesity has been suggested to have a detrimental impact on kidney structure and function, leading to focal glomerulosclerosis and hypertension. It is also associated with hyperleptinemia and elevated renal sympathetic nerve activity. Prenatal undernutrition promotes postnatal obesity, hypertension, and an altered rena...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/sj.ki.5002276
更新日期：2007-08-01 00:00:00
abstract：:The hypertrophy of renal proximal tubular cells occurs as an adaptive response to a variety of stimuli and may be involved with the progression of renal disease. Angiotensin II acting alone or in combination with other growth factors has been implicated in this process. The aims of this study were to identify the role...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1997.385
更新日期：1997-09-01 00:00:00
abstract：:The subcellular distribution of immunoreactive kallikrein was described in the rat nephron using ultrastructural immunocytochemistry. The renal tissue was fixed with a mixture of buffered picric acid-paraformaldehyde-glutaraldehyde and immunostained with the peroxidase-antiperoxidase method for the electron microscope...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1985.115
更新日期：1985-07-01 00:00:00
abstract：BACKGROUND:The long-term prognostic associations of pre- and post-dialysis blood pressures, interdialytic weight gain, and antihypertensive use in hemodialysis patients are unclear. METHODS:The United States Renal Data System (USRDS) Dialysis Morbidity and Mortality Waves 3 and 4 Study, a randomly generated sample of ...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.2002.00636.x
更新日期：2002-11-01 00:00:00
abstract：BACKGROUND:Knowledge of the long-term renal prognosis of diarrhea associated hemolytic uremic syndrome (HUS) is important for patient counseling and follow-up. However, estimates of long-term risk are highly variable, with previous studies not using a healthy control group. METHODS:A municipal water system in the smal...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1111/j.1523-1755.2005.00225.x
更新日期：2005-04-01 00:00:00
abstract：BACKGROUND:The fluid filling renal cysts in human polycystic kidneys is secreted chiefly by the tubular epithelium lining the cysts via secondary chloride transport. Inhibiting this process by somatostatin therapy should induce shrinking of renal cysts. METHODS:In this randomized, cross-over, placebo-controlled trial ...
journal_title：Kidney international
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1111/j.1523-1755.2005.00395.x
更新日期：2005-07-01 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：:Cherney and co-workers examine the functional phenotype of the G894T eNOS polymorphism in a selected group of apparently healthy subjects. The investigators used L-arginine infusion and induced changes in renal hemodynamics. While L-arginine increased effective plasma flow and glomerular filtration rate in GG subjects...
journal_title：Kidney international
pub_type： 评论,杂志文章
doi：10.1038/ki.2008.605
更新日期：2009-02-01 00:00:00
abstract：:Arguably, no cell biology related to the loss of renal function is more debated than the ontogeny of fibrosis in the kidney. Recent studies suggest that the fibroblasts depositing most of the excess extracellular matrix in diseased kidneys derive from epithelial cells versus pericytes resident within the kidney. Reich...
journal_title：Kidney international
pub_type： 评论,杂志文章
doi：10.1038/ki.2013.107
更新日期：2013-07-01 00:00:00
abstract：:To maintain nitrogen equilibrium when prescribed a low protein diet (LPD), metabolic adaptations occur involving a reduction protein turnover, principally decreased muscle protein degradation. Studies suggest that in patients with chronic renal failure (CRF) uncomplicated by metabolic acidosis (MA), these adaptive res...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1991.275
更新日期：1991-10-01 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：: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：BACKGROUND:Endothelium-derived nitric oxide and reactive oxygen species (ROS) have been proposed to regulate vascular tone by complex mechanisms, including the modulation of ion channel function. In endothelial function itself, activation of Ca2+-activated K+ channels (KCa) plays a crucial role by inducing hyperpolariz...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.2003.00051.x
更新日期：2003-07-01 00:00:00
abstract：BACKGROUND:Aquaporin-2 (AQP-2) proteins are mainly expressed at the apical region of the collecting duct cells. We previously reported three different mutations in the C-terminus of AQP-2 that all-cause autosomal-dominant nephrogenic diabetes insipidus. When one of these mutant AQP-2s was expressed in Madin-Darby canin...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1111/j.1523-1755.2005.00654.x
更新日期：2005-11-01 00:00:00
abstract：:In the present study we assessed the prevalence of thin glomerular basement membrane (TGBM) in a large group of native kidney biopsies done for evaluation of renal disease. TGBM was present in 54 of 1078 biopsies (5%). In 12 of 54 biopsies (24%), TGBM was the only abnormality present. In the remaining biopsies TGBM wa...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1994.296
更新日期：1994-08-01 00:00:00
