Abstract:
:Primary distal renal tubular acidosis is a rare genetic disease. Mutations in SLC4A1, ATP6V0A4, and ATP6V1B1 genes have been described as the cause of the disease, transmitted as either an autosomal dominant or recessive trait. Particular clinical features, such as sensorineural hearing loss, have been mainly described in association with mutations in one gene instead of the others. Nevertheless, the diagnosis of distal renal tubular acidosis is essentially based on clinical and laboratory findings, and the series of patients described so far are usually represented by small cohorts. Therefore, a strict genotype-phenotype correlation is still lacking, and questions about whether clinical and laboratory data should direct the genetic analysis remain open. Here, we applied next-generation sequencing in 89 patients with a clinical diagnosis of distal renal tubular acidosis, analyzing the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and the clinical phenotype. A genetic cause was determined in 71.9% of cases. In our group of sporadic cases, clinical features, including sensorineural hearing loss, are not specific indicators of the causal underlying gene. Mutations in the ATP6V0A4 gene are quite as frequent as mutations in ATP6V1B1 in patients with recessive disease. Chronic kidney disease was frequent in patients with a long history of the disease. Thus, our results suggest that when distal renal tubular acidosis is suspected, complete genetic testing could be considered, irrespective of the clinical phenotype of the patient.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Palazzo V,Provenzano A,Becherucci F,Sansavini G,Mazzinghi B,Orlandini V,Giunti L,Roperto RM,Pantaleo M,Artuso R,Andreucci E,Bargiacchi S,Traficante G,Stagi S,Murer L,Benetti E,Emma F,Giordano M,Rivieri F,Colussi G,doi
10.1016/j.kint.2016.12.017subject
Has Abstractpub_date
2017-05-01 00:00:00pages
1243-1255issue
5eissn
0085-2538issn
1523-1755pii
S0085-2538(17)30001-7journal_volume
91pub_type
杂志文章abstract::The effects of acidosis on renal function and morphology were examined in the isolated perfused rat kidney (IPK). Kidneys were perfused with oxygenated Krebs-Henseleit-albumin medium for 60 minutes at pH 7.4 or pH 7.0. At the lower pH, GFR was reduced by 25%, TRNa by 32% and oxygen consumption by 41% as compared to pe...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1988.251
更新日期:1988-12-01 00:00:00
abstract::Intrarenal angiotensin II is increased in kidney diseases independently of plasma angiotensin II and is thought to promote progressive deterioration of renal architecture. Here we investigated the mechanism of enhanced renal angiotensin II generation in kidney glomerular diseases. For this, kidney- or liver-specific a...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2013.453
更新日期:2014-05-01 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::Hyperinsulinemia can contribute to hypertension through effects on sodium transport. To test whether the stimulatory effect of insulin on renal proximal tubule sodium transport is preserved in insulin resistance, we compared the effects of insulin on abdominal adipocytes and proximal tubules in rats and humans. Insuli...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2014.351
更新日期:2015-03-01 00:00:00
abstract::Plasma lipid and lipoprotein concentration and high density lipoprotein (HDL) kinetics were determined in control subjects and patients with chronic renal failure (CRF). Results demonstrated that plasma triglyceride (TG) concentration was significantly higher (P less than 0.001) in patients with CRF, associated with a...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.114
更新日期:1990-05-01 00:00:00
abstract::It is no a secret that we are confronted by an alarmingly increasing number of patients with progressive renal disease. There is ample evidence for the notion that angiotensin II (Ang II) is a major culprit in progression. The vasopeptide Ang II turned out to have also multiple nonhemodynamic pathophysiologic actions ...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1111/j.1523-1755.2005.00145.x
更新日期:2005-03-01 00:00:00
abstract::Acute kidney injury (AKI), previously termed acute renal failure, is associated with increased mortality, prolonged hospital stay, and accelerated chronic kidney disease (CKD). Over the past 2 decades, dramatic rises in the incidences of AKI have been reported, particularly within the United States. The question arise...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.2014.293
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:The detailed mechanisms of glucocorticoid action in idiopathic nephrotic syndrome and progressive glomerulonephritides have not been clearly elucidated. The pharmacological actions of glucocorticoids are mediated by their binding to an intracellular protein, the glucocorticoid receptor (GR). The determinatio...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00503.x
更新日期:1999-07-01 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::Compared to normal tissue, hyperplastic parathyroid glands of patients with chronic kidney disease on dialysis express lower levels of FGFR1 and Klotho proteins. Similar findings are reported in uremic rats with advanced chronic kidney disease. Moreover, in these animals, FGF23 administration fails to reduce PTH serum...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2009.512
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:The growth hormone (GH)/insulin-like growth factor (IGF) system is thought to participate in the glomerulosclerosis process. Because IGF-binding proteins (IGFBPs) modulate IGF actions and hence GH secretion, this study assessed whether mice transgenic for human IGFBP-1 have altered susceptibility to glomerul...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00090.x
更新日期:2000-06-01 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::Insulin resistance has been associated with kidney disease even in the absence of diabetes; however, pathways linking insulin resistance to kidney disease are unclear. The purpose of this study was to determine if transforming growth factor (TGF)-beta1, a key cytokine associated with kidney disease, responds to circul...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2010.109
更新日期:2010-08-01 00:00:00
abstract::Conventional peritoneal dialysis (PD) fluids are known to inhibit polymorphonuclear cells (PMN) phagocytosis, oxidative burst and enzyme release. However, the relative contributions of apoptosis and/or necrosis to this dysfunction have not been examined. We investigated the effects of osmolality, glucose concentration...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.495
更新日期:1997-12-01 00:00:00
abstract::Transcriptome analysis of a rat polycystic kidney disease (PKD) model: importance of genes involved in extracellular matrix metabolism. PKD is a common genetic cause of chronic renal failure, and is characterized by the accumulation of fluid-filled cysts in the kidneys and other organs. Abnormalities in the expression...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000309
更新日期:2006-05-01 00:00:00
abstract::Nitric oxide is generated from L-arginine by nitric oxide synthase (NOS), an enzyme that exists in several isoforms. Some studies found that a polymorphism (G894T) in the endothelial NOS gene was associated with decreased nitric oxide bioactivity and vascular complications. However, it is not known whether the enzyme ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2008.574
更新日期:2009-02-01 00:00:00
abstract::The existence of a tissue renin-angiotensin (RAS) system independent of the circulating RAS has prompted the search for cellular binding sites for angiotensinogen and for renin in order to explain their tissue uptake. Two receptors that bind with similar affinity mature renin and prorenin were identified, the mannose-...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/sj.ki.5000265
更新日期:2006-05-01 00:00:00
abstract:BACKGROUND:Renal tract malformations are, on occasion, associated with uterine malformations. The transcription factor hepatocyte nuclear factor (HNF)-1beta is expressed from the earliest stages of development of the Wolffian duct, the mesonephros and metanephros, and the Müllerian ducts in the mouse. In adult mice HNF...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2002.00272.x
更新日期:2002-04-01 00:00:00
abstract::A genome-wide association scan of the Genetics of Kidneys in Diabetes (GoKinD) collections identified four novel susceptibility loci, located on chromosomes 7p14.3, 9q21.32, 11p15.4, and 13q33.3 associated with type 1 diabetic nephropathy. A recent evaluation of these loci in Japanese patients with type 2 diabetes sup...
journal_title:Kidney international
pub_type: 杂志文章,meta分析
doi:10.1038/ki.2011.64
更新日期:2011-07-01 00:00:00
abstract::Patients receiving cadaveric kidney transplants often experience delayed graft function. As iodinated contrast media injection (ICMI), necessary for cerebral angiography, which is often used to diagnose brain death, can be nephrotoxic, we compared renal function recovery (RFR) and 1-year and long-term graft survival a...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5001727
更新日期:2006-09-01 00:00:00
abstract:BACKGROUND:Rats that recover from acute puromycin nephrosis later develop widespread glomerular and tubulointerstitial injury. The current study sought to identify structural changes present in the recovery phase that could precipitate progressive renal disease. METHODS:Stereologic studies were performed 10 weeks afte...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2002.00481.x
更新日期:2002-08-01 00:00:00
abstract::We described the characteristics in a referred cohort of type II diabetic patients in the Developing Education on Microalbuminuria for Awareness of renal and cardiovascular risk in Diabetes study evaluating the global prevalence and determinants of microalbuminuria (MA). A cross-sectional study evaluating 32,208 type ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000377
更新日期:2006-06-01 00:00:00
abstract::Thrombomodulin (TM), an endothelial receptor for thrombin, endowed with a powerful anticoagulant activity, plays an important role in the antithrombogenicity of the vascular endothelium. Its presence within the human renal glomerulus is already known but was thought to be only endothelial. We looked for TM expression ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.99
更新日期:1997-03-01 00:00:00
abstract:UNLABELLED:Expression of apoptosis regulatory genes in chronic cyclosporine nephrotoxicity favors apoptosis. BACKGROUND:Chronic cyclosporine (CsA) nephrotoxicity is characterized by interstitial fibrosis, tubular dropout, and loss of cellularity in areas of fibrosis. Apoptosis was found to play a role in CsA-induced f...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00794.x
更新日期:1999-12-01 00:00:00
abstract::Proliferation of tubular epithelial cells underlies the development of cystic lesions and the subsequent impairment of renal function after renal mass reduction. The effect of HMG CoA reductase inhibitors (HRI) on cell proliferation was investigated in rat renal proximal tubular epithelial cells in primary culture. Tr...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.423
更新日期:1997-10-01 00:00:00
abstract:BACKGROUND:Previous reports have shown the presence of erythrogenic toxin type B (ETB), apoptosis, proliferation, and leukocyte infiltration in biopsies from patients with acute poststreptococcal glomerulonephritis (APSGN). METHODS:Attempting to correlate the apoptotic and proliferative events with the interaction of ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.059003950.x
更新日期:2001-03-01 00:00:00
abstract:BACKGROUND:We hypothesized that increasing small solute clearance in peritoneal dialysis (PD) would lead to improvements in patient health-related quality of life (HRQOL). METHODS:Patients were randomized to a control group [standard 4 x 2 L continuous ambulatory peritoneal dialysis (CAPD)] and an intervention group (...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1523-1755.2005.00175.x
更新日期:2005-03-01 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::To define the pattern of recovery from postischemic acute renal failure (ARF), we performed clearance and micropuncture studies at intervals of 1, 2, 4, and 8 weeks following 60 min of complete unilateral renal artery occlusion in the rat. At 1 week, the inulin clearance (CIn) of the postischemic kidney was less than ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1979.112
更新日期:1979-08-01 00:00:00
abstract::The parathyroid hormone (PTH) response to hypocalcemia was studied in 18 hemodialysis patients with osteitis fibrosa, and the relationship with PTH and bone histology in 26 hemodialysis patients. Hypocalcemia was produced during hemodialysis by the use of a dialysate devoid of calcium. Both amino (N) (P less than 0.05...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1984.37
更新日期:1984-02-01 00:00:00