Abstract:
:We report the first case of a mitochondrial DNA (mtDNA) deletion diagnosed by renal biopsy. An eight-year-old girl with megaloblastic anemia and severe growth retardation developed progressive renal insufficiency accompanied by partial Fanconi syndrome. Histologic examination of the renal biopsy disclosed nonspecific chronic tubulointerstitial disease characterized by tubular atrophy and interstitial fibrosis. On ultrastructural examination, tubular cell mitochondria were extremely dysmorphic with prominent size variation, abnormal arborization, disorientation of the cristae and osmiophilic electron-dense inclusions. Functional histochemical stains for mitochondrial enzymes performed on cryostat renal sections revealed focal tubular absence of cytochrome C oxidase (COX), a respiratory chain enzyme partially encoded by mtDNA, with preservation of succinate dehydrogenase (SDH), a respiratory chain enzyme entirely encoded by nuclear DNA (nDNA). Immunoreactivity for COX subunit 2 (encoded by mtDNA) was weak to undetectable in most tubular cells, whereas reactivity for subunit 4 (encoded by nDNA) was intense in all cells. Molecular analysis of the mtDNA of kidney and peripheral blood leukocytes was performed using Southern blot and PCR. Both techniques disclosed a 2.7 kb mtDNA deletion located between nucleotide (nt) 9700 and nt 13700, a common site for mtDNA deletions associated with encephalomyopathies. Mitochondrial DNA deletions may be an under-recognized cause of idiopathic tubulointerstitial nephropathy in children lacking neurologic or myopathic manifestations.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Szabolcs MJ,Seigle R,Shanske S,Bonilla E,DiMauro S,D'Agati Vdoi
10.1038/ki.1994.181subject
Has Abstractpub_date
1994-05-01 00:00:00pages
1388-96issue
5eissn
0085-2538issn
1523-1755pii
S0085-2538(15)58462-7journal_volume
45pub_type
杂志文章abstract::The kidney clears numerous solutes from the plasma; however, retention of these solutes causes uremic illness when the kidneys fail. We know remarkably little about which retained solutes are toxic and this limits our ability to improve dialysis therapies. To explore this, we employed untargeted mass spectrometry to i...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2013.154
更新日期:2013-09-01 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::In early clinical testing, acute addition of alanyl-glutamine (AlaGln) to glucose-based peritoneal dialysis (PD) fluids restored peritoneal cellular stress responses and leukocyte function. This study was designed to test the effect of extended treatment with AlaGln-supplemented PD fluid on biomarkers of peritoneal he...
journal_title:Kidney international
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1016/j.kint.2018.08.031
更新日期:2018-12-01 00:00:00
abstract::Females across their lifespan and certain male populations are susceptible to urinary tract infections (UTI). The influence of female vs. male sex on UTI is incompletely understood, in part because preclinical modeling has been performed almost exclusively in female mice. Here, we employed established and new mouse mo...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.04.023
更新日期:2018-09-01 00:00:00
abstract::Protein-bound uremic toxins (PBUTs) accumulate in chronic kidney disease (CKD) and are poorly removed by dialysis. Gryp et al. demonstrated that fecal bacteria from patients with CKD do not produce more PBUTs than do those from healthy controls and that the accumulation of PBUTs, as CKD progresses, is mainly due to th...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.02.026
更新日期:2020-06-01 00:00:00
abstract::Diabetic kidney disease is the leading cause of kidney failure. However, studies of molecular mechanisms of early kidney damage are lacking. Here we examined for possible linkage between transcriptional regulation and quantitative structural damage in early diabetic kidney disease in Pima Indians with type 2 diabetes....
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.08.013
更新日期:2018-02-01 00:00:00
abstract::Hypoalbuminemia is the most powerful predictor of mortality in end-stage renal disease. Since protein-calorie malnutrition can decrease albumin synthesis it is assumed that hypoalbuminemia results principally from malnutrition in these patients, but albumin synthesis may also be decreased as part of the acute-phase re...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.321
更新日期:1995-08-01 00:00:00
abstract::Chronic kidney disease (CKD) promotes development of cardiac abnormalities and is highly prevalent in patients with heart failure, particularly in those with preserved ejection fraction. CKD is associated with endothelial dysfunction, however, whether CKD can induce impairment of endothelium-to-cardiomyocyte crosstalk...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.12.013
更新日期:2020-12-22 00:00:00
abstract::As an alternative to classical immunosuppressants in experimental lupus nephritis, we looked at bindarit, 2-methyl-2-[[1-phenylmethyl)-1H-indazol-3-y1]methoxy]propanoic acid, a novel molecule devoid of immunosuppressive effects, which selectively reduces chronic inflammation in rat adjuvant arthritis. Two groups of NZ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00804.x
更新日期:1998-03-01 00:00:00
abstract::T lymphocytes modulate early ischemia-reperfusion injury in the kidney; however, their role during repair is unknown. We studied the role of TCRbeta(+)CD4(+)CD25(+)Foxp3(+) regulatory T cells (Tregs), known to blunt immune responses, in repair after ischemia-reperfusion injury to the kidney. Using a murine model of is...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2009.259
更新日期:2009-10-01 00:00:00
abstract::Utilizing [5-15N] and [2-15N]-labeled glutamine and gas chromatography mass spectrometry methodology, we examined the pathways of ammoniagenesis under basal and acute acidotic conditions of pH 7.0 and pH 6.8, respectively. LLC-PK1 cultures were incubated for one hour with gentle rocking in a bicarbonate buffer of pH 7...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.137
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Poly (ADP-ribose) polymerase (PARP), a nuclear enzyme activated by strand breaks in DNA, plays an important role in the development of ischemia/reperfusion (I/R) injury. The aim of this study was to investigate the effects of a water-soluble and potent PARP inhibitor, 5-aminoisoquinolinone (5-AIQ), on the re...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00415.x
更新日期:2004-02-01 00:00:00
abstract::Progression of diabetic nephropathy appears directly related to renal tubulointerstitial injury, but the involved genes are incompletely delineated. To identify such genes, DNA microarray analysis was performed with RNA from renal proximal tubules (RPTs) of streptozotocin-induced diabetic Wistar rats, spontaneously di...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000206
更新日期:2006-03-01 00:00:00
abstract::Hyper-activation of Rac1, a small GTPase, in glomerular podocytes has been implicated in the pathogenesis of familial proteinuric kidney diseases. However, the role of Rac1 in acquired nephrotic syndrome is unknown. To gain direct insights into this, we generated a transgenic mouse model expressing a doxycycline-induc...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.03.010
更新日期:2017-08-01 00:00:00
abstract::We explored how B-lymphocytes influence in vitro T-cell alloresponses in patients with antibody-mediated rejection (AMR), testing whether B-cells would be preferentially involved in this group of patients. Peripheral blood mononuclear cells were collected from 65 patients having biopsy: 14 patients with AMR and 5 with...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2015.100
更新日期:2015-09-01 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:BACKGROUND:The purpose of this study was to evaluate the renoprotective effect as reflected by short-term changes in albuminuria of ultrahigh doses of irbesartan in type 2 diabetic patients with microalbuminuria. METHODS:This double-masked randomized crossover trial included 52 (41 males) hypertensive type 2 diabetic ...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1523-1755.2005.00511.x
更新日期:2005-09-01 00:00:00
abstract::We evaluated the effects of the bisphosphonate pamidronate on bone histomorphometry, structure and strength in male rats with uninephrectomy or with chronic renal disease induced by 5/6 nephrectomy. In rats with chronic renal disease the plasma urea, phosphate and parathyroid hormone levels were significantly increase...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2008.180
更新日期:2008-08-01 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:The prevalence of cardiovascular disease (CVD) and inflammation is high in patients with end-stage renal disease (ESRD). Adiponectin is an adipocytokine that may have significant anti-inflammatory and anti-atherosclerotic effects. Low adiponectin levels have previously been found in patients with high risk f...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00370.x
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Hyperoxaluria may be idiopathic, secondary, or due to primary hyperoxaluria (PH). Hepatic alanine:glyoxylate aminotransferase (AGT) or glyoxylate/hydroxypyruvate reductase (GR/HPR) deficiency causes PHI or PHII, respectively. Hepatic glycolate oxidase (GO) is a candidate enzyme for a third form of inherited ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2002.00468.x
更新日期:2002-08-01 00:00:00
abstract::Hyperhomocysteinemia, an arteriosclerotic risk factor, persists in 75% of dialysis patients despite routine low dose supplementation with the B-vitamin co-factors/substrates for homocysteine (Hcy) metabolism, and normal or supernormal plasma status of these vitamins (Atherosclerosis 114:93, 1995). We conducted a place...
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.1996.19
更新日期:1996-01-01 00:00:00
abstract::The cross talk between the immune and nervous systems is critical not only for maintaining normal homeostasis but also for the progression of a variety of inflammatory diseases. Macrophage activation and β2-adrenergic receptors are known to play important roles in facilitating this communication between these 2 system...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2017.03.024
更新日期:2017-07-01 00:00:00
abstract::Disturbed pulsatile LH secretion has been suggested to play a role in the etiology of delayed puberty and disturbed reproductive function in chronic renal failure (CRF), but interpretation of gonadotropin secretion from plasma concentration measurements is confounded by alterations in hormone metabolic clearance. To s...
journal_title:Kidney international
pub_type: 杂志文章,多中心研究
doi:10.1038/ki.1994.191
更新日期:1994-05-01 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:Pre-eclampsia is characterized by hypertension, proteinuria and edema. Simultaneous studies of kidney function and structure have not been reported. We wished to explore the degree and nature of glomerular dysfunction in pre-eclampsia. METHODS:Physiologic techniques were used to estimate glomerular filtrati...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00097.x
更新日期:1998-10-01 00:00:00
abstract:BACKGROUND:The benefit of the potent chemotherapeutic agent cisplatin in treating neoplasms is limited by nephrotoxicity. We tested the hypothesis that CD54 [intercellular adhesion molecule-1 (ICAM-1)] is an important mediator in cisplatin-mediated renal failure. METHODS:The effect of a monoclonal anti-CD54 antibody w...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00629.x
更新日期:1999-09-01 00:00:00
abstract:BACKGROUND:Epithelial cells in the renal inner medulla accumulate osmolytes such as betaine to maintain normal cell volume during prolonged extracellular hypertonic stress. Betaine accumulation is the result of activation of transcription of the BGT1 transporter gene followed by increased betaine transport. METHODS:We...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.00733.x
更新日期:2001-06-01 00:00:00
abstract::Glucocorticoid induced leucine zipper protein (GILZ) is an aldosterone-regulated protein that controls sodium transport in cultured kidney epithelial cells. Mice lacking GILZ have been reported previously to have electrolyte abnormalities. However, the mechanistic basis has not been explored. Here we provide evidence ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.10.038
更新日期:2017-05-01 00:00:00
abstract::The Dietary Approaches to Stop Hypertension (DASH) diet lowers blood pressure, an important risk factor for chronic kidney disease (CKD) and end-stage renal disease (ESRD). However, it is unclear whether adherence to a DASH diet confers protection against future ESRD, especially among those with pre-existing CKD and h...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2018.12.027
更新日期:2019-06-01 00:00:00