Abstract:
:Von Hippel-Lindau (VHL) disease is a rare autosomal dominant disorder characterized by multifocal and bilateral renal cell carcinoma and cysts, retinal angiomas, hemangioblastoma of the central nervous system, pheochromocytoma, epididymis cystoadenoma, pancreatic cysts and/or islet cell tumors. However, phenotypic manifestations and clinical outcome are wide ranging including inter and intra-familial patterns. The VHL gene has been localized on chromosome 3 p 25-26 and more than 250 germline mutations have been described. The sensitivity of analytic techniques of VHL gene is close to 100%. It is well known that about 25% of VHL patients present de novo mutations, and first cases function as possible founders of new VHL kindreds. Herein, we report the clinical case of a 45-year-old Caucasian female patient affected by bilateral polycystic kidney disease with two renal carcinomas in both kidneys without lynphoadenopathies. She underwent ophthalmologic surgery at 19 years old because of retinal detachment due to bilateral retinal angiomatosis. Direct gene sequencing showed a deletion-insertion in exon 3, starting from nucleotide 499 of the coding sequence (c.499-504 delinstT) in a heterozygous status; it causes a frame-shift and creates a premature stop at codon 170. The genetic study of the unaffected parents and of the unaffected brother confirmed the diagnosis of de novo VHL disease with the dentification of a new germline mutation, never reported in the literature. The patient showed normal kidney function and she did not show other organ lesions or clinical manifestations of VHL disease. She was successfully submitted to renal parenchymal sparing-surgery. In conclusion, it is important to test for germline mutations in VHL patients with the involvement of one organ or a pair of organs. Once the mutation is found in the proband, all family members can be easily tested for the documented mutation. The early identification of VHL patients is very important for clinical and genetic reasons.
journal_name
J Nephroljournal_title
Journal of nephrologyauthors
Sessa A,Battini G,Meroni M,Pitingolo F,Righetti M,Ciotti P,Di Maria E,Bellone E,Ajmar F,Mandich Psubject
Has Abstractpub_date
2005-03-01 00:00:00pages
209-12issue
2eissn
1121-8428issn
1724-6059journal_volume
18pub_type
杂志文章abstract::There have been dramatic increases in the understanding of the molecular mechanisms involved in membranous nephropathy (MN) over the past 2 decades. Most of these have come directly from studies carried out in the Heymann nephritis models of MN in rats, which closely simulate the clinical and pathologic features of th...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2006-11-01 00:00:00
abstract::The kidney maintains systemic acid-base homeostasis through proximal tubular reclamation of filtered bicarbonate, and excretion of the daily mineral acid load by collecting duct type A intercalated cells. Impairment of either process produces renal tubular acidosis (RTA). This article will provide an overview of famil...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2010-11-01 00:00:00
abstract:BACKGROUND:Chronic kidney disease is a risk factor for death in the year following myocardial infarction or coronary angioplasty. Whether the risk is similar after coronary stenting, whether impaired renal function is associated with an increased risk of cardiovascular death or myocardial infarction (MI) after coronary...
journal_title:Journal of nephrology
pub_type: 杂志文章,随机对照试验
doi:
更新日期:2006-11-01 00:00:00
abstract:BACKGROUND:Removal of anti-glomerular basement membrane (anti-GBM) antibody by extracorporeal treatment including plasmapheresis or immunoadsorption (IA) has been considered an effective method in the treatment of Goodpasture's syndrome. In this study, we investigated the effect of IA on serum anti-GBM level and evalua...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2006-05-01 00:00:00
abstract::Hemolytic uremic syndrome (HUS) is a rare disease characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. It is usually secondary to infections by strains of Escherichia coli (STEC) that produce Shiga-like toxin. In about 10% of patients, no STEC infections are reported. In these ...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/jn.5000146
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Coronary artery disease (CAD) and chronic kidney disease (CKD) lead to high morbidity and mortality rates. Traditional and nontraditional risk factors, hypertension, fluid overloading and anemia can lead to myocardial ischemia, chamber hypertrophy and dilatation, and low left ventricular ejection fraction (L...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:Rituximab (RTX) is approved for remission induction in ANCA associated vasculitis (AAV). However, data on use of RTX in patients with severe renal disease is lacking. METHODS:We conducted a retrospective multi-center study to evaluate the efficacy and safety of RTX with glucocorticoids (GC) with and without...
journal_title:Journal of nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s40620-015-0208-y
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVES:HERMEX is a population-based study which tries to evaluate the relative weight of cardiovascular risk factors in inhabitants of Extremadura, Spain. This report presents the data about chronic kidney disease (CKD) in a Spanish population sample. METHODS:For an observational cross-sectional population-based s...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.5301/jn.5000221
更新日期:2013-07-01 00:00:00
abstract:INTRODUCTION:During potassium (K) depletion, many adaptive responses are likely mediated through a complex network that involves expression of a variety of genes. We identified that the Nrf2 gene was differentially expressed between normal and K-depleted rat kidney. METHODS:To investigate the effect of Nrf2 on colonic...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.5301/JN.2011.8448
更新日期:2012-03-01 00:00:00
abstract::Wilson's disease is an autosomal recessive disorder of hepatobiliary copper metabolism. Glomerular diseases can ensue during the course of Wilson's disease and membranous nephropathy is the eventual pathology in the majority of these cases. Membranoproliferative glomerulonephritis (MPGN) has rarely been reported in pa...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2006-11-01 00:00:00
abstract::The proximal tubule reabsorbs approximately 80% of the filtered load of bicarbonate. Defects in the process of bicarbonate reabsorption result in loss of bicarbonate and proximal renal tubular acidosis. Global proximal tubule dysfunction is known as the Fanconi's syndrome. Both isolated proximal renal tubular acidosis...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2006-03-01 00:00:00
abstract:BACKGROUND:Uremic pruritus as a symptom that affects hemodialysis (HD) patients can decrease the quality of life and increase morbidity in these patients. The aim of this study was to evaluate the effects of turmeric on uremic pruritus in HD patients. SUBJECTS AND METHODS:This was a double-blind placebo-controlled tri...
journal_title:Journal of nephrology
pub_type: 杂志文章,随机对照试验
doi:10.1007/s40620-014-0039-2
更新日期:2014-04-01 00:00:00
abstract::It has been increasingly apparent that end-stage renal disease (ESRD) patients carry an inflammatory burden, which may play a pivotal role in the evolution of not only wasting but also of the massive increase in the relative risk of cardiovascular disease (CVD). Also increased oxidative stress (an impairment of the pr...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:2004-11-01 00:00:00
abstract:BACKGROUND:There have been many studies in recent years concerning the role of nitric oxide (NO) in acute renal failure (ARF). In this study, the effects of the inhibition or the induction of NO synthase (NOS) on gentamicin-induced ARF was investigated in isolated perfused rat kidneys. METHODS:Kidneys from male Spragu...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2005-09-01 00:00:00
abstract::Hyperuricosuric calcium urolithiasis is a condition of mixed calcium oxalate stones characterized by hyperuricosuria either in isolation or in conjunction with other risk factors for calcium oxalate stones such as hypercalciuria, hyperoxaluria, and hypocitraturia. There are three proposed physicochemical models of pat...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-018-0469-3
更新日期:2018-04-01 00:00:00
abstract::The role of the kidney in controlling and maintaining plasma potassium levels in the normal range requires the presence and activity of renal potassium channels, and their importance has been highlighted in patients with Bartter syndrome harboring mutations in the ROMK (Kir1.1, KCJN1) channel and hyperkalemia. However...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2010-01-01 00:00:00
abstract::Colchicine is an effective antiinflammatory medication. It should be used with great caution, however, in patients requiring dialysis. Coadministration of colchicine and macrolides may impair colchicine elimination, resulting in excess drug exposure and toxicity. We report 2 renal failure cases of colchicine intoxicat...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2006-07-01 00:00:00
abstract::Modern nephrology developed in Poland mostly from the internal medicine department chaired in Warsaw by the great internist prof. Witold Orłowski (1874-1966). Three of his pupils Tadeusz Orłowski, Jan Roguski and Jakub Penson independently established the foundations of clinical nephrology and renal replacement therap...
journal_title:Journal of nephrology
pub_type: 历史文章,杂志文章
doi:
更新日期:2006-05-01 00:00:00
abstract::Acute kidney injury (AKI) is an increasing health burden with high morbidity and mortality rates worldwide. AKI is a risk factor for chronic kidney disease (CKD) development and progression to end stage renal disease (ESRD). Rapid action is required to find treatment options for AKI, plus to anticipate the development...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.1007/s40620-020-00793-2
更新日期:2020-12-01 00:00:00
abstract::End-stage renal disease (ESRD) is a significant global health problem that places a considerable burden on health care resources. The leading cause of death in ESRD patients is cardiovascular disease, which is often preceded by changes in cardiac geometry, including left ventricular hypertrophy (LVH). Treatments that ...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/JN.2011.8422
更新日期:2011-07-01 00:00:00
abstract::IgA nephropathy (IgAN) is characterised by the mesangial deposition of polymeric IgA1 (pIgA1). pIgA1 production is reduced in the mucosal immune system in IgAN and increased in the marrow; this switch may be secondary to a defect in gammadeltaT cell control of IgA production. However this does not explain the mechanis...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:1999-03-01 00:00:00
abstract::The newly described endothelium-dependent vasoactive substances, nitric oxide and endothelins, have been the subject of intense investigative interest and have been demonstrated to promote a wide array of autocrine and paracrine functions. Recent data highlight their emerging role as potential important mediators of r...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:1997-05-01 00:00:00
abstract::The analysis of the urinary proteome is a potential source of information regarding the kidney's physiopathology. A clear knowledge of the protein composition of normal urine is an essential prerequisite to looking at its pathology. Technological evolution in the field of proteomics (2-dimensional [2D] electrophoresis...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:10.5301/jn.5000233
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Cardiac surgery-associated acute kidney injury (CSA-AKI) is associated with high risk for complications and mortality. Whether renin-angiotensin system (RAS) inhibitor should be continued or withdrawn in patients with long-term use before cardiac surgery has been lack of consensus. METHODS:We performed this...
journal_title:Journal of nephrology
pub_type: 杂志文章,多中心研究
doi:10.1007/s40620-019-00657-4
更新日期:2019-12-01 00:00:00
abstract::Aortic intimal sarcoma is a rare tumor with poor prognosis. The most common manifestations are thromboembolic phenomena and vascular obstruction. We present a case of aortic intimal sarcoma causing bilateral renal artery stenosis which manifested as resistant hypertension and acute kidney inury. Multiple attempts to s...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.5301/jn.5000283
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Previous in vitro experiments of human polycystic kidney disease (PKD) cells reported that caffeine is a risk factor for the promotion of cyst enlargement in patients with autosomal dominant PKD (ADPKD). The relentless progression of ADPKD inclines the majority of physicians to advocate minimization of caffe...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:10.1007/s40620-017-0396-8
更新日期:2018-02-01 00:00:00
abstract:BACKGROUND:The detailed mechanisms and treatment methods of chronic kidney disease (CKD) in patients with chronic heart failure (CHF) are not fully understood. We conducted a prospective study in CHF patients manifesting CKD to examine if AST-120 (Kremezin) improves cardiac and renal functions. METHODS:Twenty outpatie...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2010-09-01 00:00:00
abstract::Henoch-Schonlein purpura is a clinical syndrome characterized by the association of skin, joint, and gastrointestinal symptoms. Henoch-Schonlein purpura is characterized by wide-spread vasculitis. Although the clinical symptoms of this disease are characteristic, the diagnosis is not always easy to establish because o...
journal_title:Journal of nephrology
pub_type: 杂志文章
doi:
更新日期:2005-11-01 00:00:00
abstract::With increasingly accurate non-invasive tests, the clinician frequently discovers obstruction of the renal arteries by atherosclerosis. The decision to reverse this obstruction is not straightforward, particularly when blood pressure can be easily controlled with medications. Proper management of this problem requires...
journal_title:Journal of nephrology
pub_type: 杂志文章,评审
doi:
更新日期:1998-05-01 00:00:00
abstract:BACKGROUND:Previously we have demonstrated anabolic effects and improved functional status after growth hormone (GH)-therapy in elderly patients in chronic hemodialysis. The aim of this study is to elucidate the effects of GH-therapy on lipid profiles, blood pressure and bone metabolism. METHODS:Twenty patients, mean ...
journal_title:Journal of nephrology
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:2003-03-01 00:00:00