Abstract:
:Mitochondrial disorders are genetic defects of oxidative phosphorylation. Oxidative phosphorylation takes place in the mitochondrial inner membrane and consists of the oxidation of fuel molecules by oxygen and the concomitant energy transduction into ATP. The mitochondrial respiratory chain is a complex metabolic pathway. It is made of approximately 100 polypeptides, most of which are encoded in the nucleus whereas 13 are encoded in the mitochondria. Mitochondrial DNA is maternally inherited and its mutations are transmitted by the mother. During cell division, mitochondria are randomly partitioned in daughter cells. Therefore, in case normal and mutant DNA are present in the mother's cells, some lineage may have only mutant mitochondrial DNA or normal mitochondrial DNA while others may have both mutant and normal DNA, a condition named heteroplasmy. Renal involvement in mitochondrial cytopathies is rare. Patients most often present with a more or less complete de Toni-Debré-Fanconi syndrome. A few patients present with a nephrotic syndrome or with chronic tubulointerstitial nephritis. The investigation of patients with mitochondrial disorders include metabolic screening for abnormal oxidoreduction status in plasma, investigation of the mitochondrial respiratory chain, including polarographic and spectrophotometric studies, histopathologic studies and genetic studies.
journal_name
Nephrol Therjournal_title
Nephrologie & therapeutiqueauthors
Niaudet Pdoi
10.1016/j.nephro.2012.10.004subject
Has Abstractpub_date
2013-04-01 00:00:00pages
116-24issue
2eissn
1769-7255issn
1872-9177pii
S1769-7255(12)00542-1journal_volume
9pub_type
杂志文章abstract::In 2006, 6,509 patients with end-stage renal disease living in 16 regions covering 48(M) inhabitants (79% of the French population), started renal replacement therapy (dialysis or preemptive graft): median age was 71 years; 3% had a preemptive graft. The overall crude annual incidence rate of renal replacement therapy...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:
更新日期:2008-07-01 00:00:00
abstract:UNLABELLED:Ethylene glycol is present predominantly in antifreeze,and in industrial solvents. Accidental ingestion of ethylene glycol is relatively rare, but may be potentially lethal. It results in a depression of the central nervous system, a severe metabolic acidosis and an acute renal failure by tubular precipitati...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2008.12.003
更新日期:2009-06-01 00:00:00
abstract::Perioperative period is very likely to lead to acute renal failure because of anesthesia (general or perimedullary) and/or surgery which can cause acute kidney injury. Characterization of acute renal failure is based on serum creatinine level which is imprecise during and following surgery. Studies are based on variou...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2013.11.007
更新日期:2014-04-01 00:00:00
abstract::While the CKD-EPI (for Chronic Kidney Disease Epidemiology) equation is now implemented worldwide, utilization of the Cockcroft formula is still advocated by some physicians for drug dosage adjustment. Justifications for this recommendation are that the Cockcroft formula was preferentially used to determine dose adjus...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2015.07.472
更新日期:2016-02-01 00:00:00
abstract::Continuous renal replacement therapy (CRRT) with a high cutoff (HCO) membrane is proposed for septic shock as a blood purification technique. The aim of this therapy is to modulate the immune response through the increase of the clearances of the inflammatory mediators as compared to standard CRRT. The use of HCO memb...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2013.07.370
更新日期:2013-12-01 00:00:00
abstract::In reference to psychopathology, the authors highlight several indicators of the aging dialysed patient's psychological functioning. The aim of this work is to extract some indicators in order to help these patients to experience a pleasant aging, in spite of a difficult disease state, constraining care and the presen...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2008.04.004
更新日期:2009-04-01 00:00:00
abstract::Extracellular content in magnesium represents about 1% of total body content, of which plasma magnesium is thus a poor reflect. Hypomagnesaemia is defined by a value lesser than 0.65mmol/L. Its incidence in hospitalized patients ranges between 10 and 15%. Identification of the physiopathology of hypomagnesaemia relies...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2012.09.002
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:In dialysis patients, a misevaluation of dry weight may lead to an increased morbidity and mortality. The aim of this cross-sectional multicenter study was to evaluate the association between residual urinary sodium excretion and extracellular volume status in chronically treated hemodialysis patients. PATI...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,多中心研究
doi:10.1016/j.nephro.2013.11.004
更新日期:2014-04-01 00:00:00
abstract::BK virus is near ubiquitous, with a seroprevalence of around 80% in the general population. Subsequent to an asymptomatic primary infection, BK virus then remains dormant in healthy subjects. Reactivation occurs in immunocompromised people. BKv is pathogenic mainly among patients who have received a kidney transplant,...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2015.11.003
更新日期:2016-04-01 00:00:00
abstract::The treatment of end-stage renal disease requires a significant number of drug treatments. At patient level, daily management is somewhat difficult: Number of prescribed pills, medication side effects, treatment of asymptomatic diseases… The objective of the study was to investigate the effect of guidance tailored to ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2016.04.001
更新日期:2016-12-01 00:00:00
abstract::Calcium and phosphate play a key role in bone mineralization but have also many other physiological functions. The control of serum phosphate concentration is mandatory to avoid the occurrence of severe metabolic disorders, but is less tightly regulated than serum ionized calcium concentration, which is maintained in ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2010.12.004
更新日期:2011-04-01 00:00:00
abstract::High blood pressure during renal disease is highly prevalent and an important risk factor for cardiovascular disease and renal progression. Its optimal management is therefore necessary to improve the prognosis of patients. Several trials concerning the blood pressure target in patients with chronic non-diabetic kidne...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2018.01.001
更新日期:2018-11-01 00:00:00
abstract::Salt consumption has substantially increased these last years in our modern societies and far exceeds our needs. It has a great impact on cardiovascular and renal disease and represents a major issue in public health. The present work is a review of observational and interventional studies exploring the relationship b...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2018.02.002
更新日期:2018-04-01 00:00:00
abstract::Clinical nephrology in the european french-speaking countries made great strides just after the 2nd World War. The "Société de Pathologie Rénale" was founded and assembles French, Belgian and Swiss nephrologists. The first studies were physiopathological and bore on acute uremia and the associated hydromineral disorde...
journal_title:Nephrologie & therapeutique
pub_type: 历史文章,杂志文章
doi:10.1016/j.nephro.2009.01.005
更新日期:2009-06-01 00:00:00
abstract::African-Americans exhibit an excess risk for chronic and end-stage kidney disease compared to the non-African populations. Two APOL1 genetic variants were shown to account for the majority of this racial disparity in glomerulopathies and other non-diabetic kidney disease. The high-risk genotype has only been reported ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2019.03.007
更新日期:2019-04-01 00:00:00
abstract::Recently, several meta-analysis suggested an increased risk of cancers linked to the use of antagonists of angiotensin-2 receptors or inhibitors of angiotensinogen converting enzyme. The results of epidemiological studies are conflicting. Meta-analysis as well as retrospective studies are not reliable and biased, sinc...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2012.09.006
更新日期:2013-04-01 00:00:00
abstract::Recombinant human erythropoietin (rHuEPO) has transformed the management chronic renal failure (CKD) and considerably improved the outcome of patients on regular chronic dialysis. However, a significant number of patients fail to respond to high of Erythropoiesis-stimulating agents (ESAs) and several causes of inadequ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:
更新日期:2006-09-01 00:00:00
abstract::The optimal method to assess the adequacy of peritoneal dialysis therapies is controversial. Today, the adequacy must not be considered as a number or a concept assessed only by two parameters (total KT/V urea and total solute clearance) but defined by many more items. In the absence of data, based on theoretical cons...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2013.05.005
更新日期:2013-11-01 00:00:00
abstract::Due to a national theoretical training provided to all resident for many years and the ongoing discussions to change the organization of the resident training of specialized study diploma (SSD) of nephrology, a survey was done to assess the perception of skills acquired in the management of different clinical situatio...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2017.01.026
更新日期:2017-12-01 00:00:00
abstract::Plasma exchange is a non-selective apheresis technique that can be performed by filtration or centrifugation allowing rapid purification of high molecular weight pathogens. An immunosuppressive treatment is generally associated to reduce the rebound effect of the purified substance. Substitution solutes such as human ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2016.12.002
更新日期:2017-02-01 00:00:00
abstract:INTRODUCTION:The treatment of secondary hyperparathyroidism (SHPT) in dialysis patients has changed with the introduction of cinacalcet (CC), which represents a medical alternative to surgical parathyroidectomy (PTX). The aim of our study is to prospectively assess the tolerance and efficacy of CC in patients, treated ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2009.12.004
更新日期:2010-04-01 00:00:00
abstract:INTRODUCTION:Optimal drug treatment may slow down the progression of chronic kidney disease (CKD) and reduce the associated complications. We conducted a study to assess the drug treatment of inpatients with CKD at their discharge. METHODS:We retrospectively collected patient data from the electronic medical record of...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2014.08.004
更新日期:2015-02-01 00:00:00
abstract::Hypoxia is a common clinical problem that has profound effects on renal homeostasis. Prolyl-4-hydroxylases PHD1, 2 and 3 function as oxygen sensors and control the activity of hypoxia-inducible factor (HIF), an oxygen-sensitive transcription factor that regulates a multitude of hypoxia responses, which help cells and ...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2017.01.015
更新日期:2017-04-01 00:00:00
abstract::The overall risk of cancer in the kidney transplant patient is three to five times higher than the risk in the general population, and the risk of cutaneous epitheliomas, the most frequent, is multiplied by 100. There are many causes of posttransplantation cancer involving modifications in the immunosurveillance of ne...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/S1769-7255(08)74238-X
更新日期:2008-10-01 00:00:00
abstract::Kakimoto and Akazawa, first isolated and identified asymmetric dimethylarginine (ADMA) from human urine in 1970. They speculated that ADMA, and its structural isomer symmetrical dimethylarginine (SDMA), "may be important for the study of various pathological states". It took 22 years before this hypothesis materialize...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2007.02.002
更新日期:2007-04-01 00:00:00
abstract::Nephrologists should be aware the fact that the angioedema is a common side effect not only under angiotensin-converting enzyme (ACE) inhibitors treatment but also under sartans therapy. The frequency of angioedema under ACE inhibitors is estimated at 1 to 7 per thousand. The physiopathology of ACE angioedema implicat...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/j.nephro.2007.03.003
更新日期:2007-06-01 00:00:00
abstract::We report on two cases of hypokaliemic periodic paralysis due to a potassium shift from the extracellular to the intracellular compartment of skeletal muscle cells. The first case occurred in a 15-year-old boy who experienced rapid onset flaccid tetraplegia without neurological abnormalities. Physical exam revealed fa...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2006.07.012
更新日期:2006-11-01 00:00:00
abstract::Cytomegalovirus is common in adult recipients (prevalence of 40-90%). Children are typically seronegative but immunosuppression may prone to primary-infection or viral reactivation, with potentially severe consequences. CMV infection incidence in pediatric kidney transplant recipients has seldom been investigated. The...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章
doi:10.1016/j.nephro.2018.04.003
更新日期:2019-03-01 00:00:00
abstract::Overweight, as well as obesity have become mass phenomena with an ever increasing prevalence in most countries all over the world, and are associated with a greater cardiovascular risk and mortality. Weight excess is usually directly related to an additional risk of morbidity and mortality in the general population. I...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,评审
doi:10.1016/S1769-7255(09)75167-3
更新日期:2009-07-01 00:00:00
abstract:BACKGROUND:The end-stage renal disease (ESRD) in children has special features in terms of etiologies, therapeutic modalities and access to renal transplantation. In Tunisia, there are no data on the epidemiology of ESRD in children. The aim of our study was to describe epidemiology of ESRD among Tunisian children. ME...
journal_title:Nephrologie & therapeutique
pub_type: 杂志文章,多中心研究
doi:10.1016/j.nephro.2015.09.001
更新日期:2016-06-01 00:00:00