Abstract：
BACKGROUND:Variant forms of lysozyme, a ubiquitous bacteriolytic enzyme, are known to lead to hereditary non-neuropathic renal amyloidosis and, so far, three different mutations of the lysozyme gene have been reported. In this study, we report a novel lysozyme variant, Phe57Ile, associated with renal amyloidosis in three patients in one Italian Canadian family. METHODS:The proband was a 52-year-old woman who developed renal failure at the age of 42 years. Renal biopsy demonstrated replacement of glomeruli by amyloid. Her younger sister and her younger daughter who underwent renal transplantation also had renal amyloidosis. The proband's older daughter and her niece were in good health. To elucidate pathogenesis of this hereditary renal amyloidosis, DNA analyses of the lysozyme gene, including single strand confirmation polymorphism, direct DNA sequence, and restriction fragment length polymorphism analyses, were performed. RESULTS:DNA analyses of the lysozyme gene revealed a T to A transversion at the first position of codon 57 of the lysozyme gene in the proband, her sister, and her affected and unaffected daughters, indicating a replacement of Phe by Ile at residue 57. In addition, DNA sequencing demonstrated a C to A transversion at the second position of codon 70, denoting a replacement of Thr by Asn at residue 70, in the proband's sister and her niece. Thus, the proband's sister is compound heterozygous for the Phe57Ile and Thr70Asn alleles. CONCLUSION:Distinctive clinical features in patients of this family are nephropathy due to renal amyloidosis. Our results indicate that the novel lysozyme variant Phe57Ile is associated with renal amyloidosis in this family. From our results, a clear relation between the Thr70Asn polymorphism and renal amyloidosis could not be demonstrated.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Yazaki M,Farrell SA,Benson MDdoi
10.1046/j.1523-1755.2003.00904.xsubject
Has Abstractpub_date
2003-05-01 00:00:00pages
1652-7issue
5eissn
0085-2538issn
1523-1755pii
S0085-2538(15)49054-4journal_volume
63pub_type
杂志文章abstract：BACKGROUND:A need exists for a therapy that lowers parathyroid hormone (PTH) without increasing calcium x phosphorus in patients with secondary hyperparathyroidism. The calcimimetic AMG 073 increases the sensitivity of the parathyroid calcium-sensing receptor to extracellular calcium, thereby reducing PTH secretion. Co...
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：10.1046/j.1523-1755.2003.00720.x
更新日期：2003-01-01 00:00:00
abstract：:We have previously shown that the activity of the Na-HCO3 cotransporter is stimulated by protein kinase C (PKC) activation, but the mechanism responsible for this effect is not clear. We have shown that cultured proximal tubule cells of the rabbit have DIDS-sensitive Na-HCO3 cotransporter activity as assessed by HCO3-...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1996.98
更新日期：1996-03-01 00:00:00
abstract：:The genomic action of calcitriol is mediated through the interaction of the calcitriol receptor (VDR) with vitamin D response elements (VDREs) of the target genes. We have shown that the interaction of VDRs with VDREs is inhibited by uremic toxins. We hypothesize that uremic toxins form Schiff bases with the lysine re...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1996.469
更新日期：1996-11-01 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：:Isolated perfused rat kidneys were passively sensitized by addition of either mouse ascitic fluid containing monoclonal IgE against dinitrophenol (DNP) or DNP-specific purified IgE. After washing the organ, defined doses of DNP-bovine serum albumin were given as bolus injection via the kidney artery. Antigen challenge...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1987.197
更新日期：1987-08-01 00:00:00
abstract：:Fourteen subjects with persistent azotemia and normal glomerular filtration rate were studied by renal clearances and hormonal determinations to establish the nephron site of altered urea transport and the mechanism(s) responsible for their azotemia. During constant alimentary protein, urea nitrogen appearance was nor...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1987.266
更新日期：1987-11-01 00:00:00
abstract：:The present studies were undertaken to assess the effects of 5'-N-ethylcarboxamideadenosine (NECA), an adenosine analogue, on erythropoietin (Epo) production. NECA (0.05 and 0.1 mumol/kg i.v.) produced significant increases in serum Epo levels (368.8 +/- 56.1 and 384.6 +/- 45.9 mU/ml, respectively) in exhypoxic polycy...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1993.307
更新日期：1993-10-01 00:00:00
abstract：:Intestinal regulation of oxalate absorption is a complex mechanism, not exclusively reliant on the oxalate-degrading anaerobe Oxalobacter formigenes. Using metagenomics, Miller et al. were able to describe a network of bacterial taxa co-occurring with Oxalobacter formigenes in fecal samples from non-stone forming cont...
journal_title：Kidney international
pub_type： 评论,杂志文章
doi：10.1016/j.kint.2019.03.020
更新日期：2019-07-01 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：:Osteopontin is an arginine-glycine-aspartate (RGD) containing secreted phosphoprotein recently shown to stimulate a local macrophage influx when injected subcutaneously in mice. We examined the effect of angiotensin II infusion on renal injury and osteopontin expression in the rat kidney by in situ hybridization and i...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1994.67
更新日期：1994-02-01 00:00:00
abstract：:The purpose of these studies was to quantitatively assess the role of endogenous angiotensin II activity in controlling transport in the proximal convoluted tubule (PCT) and whole nephron. We used the nonpeptide angiotensin II receptor antagonist DuP 753, which lacks the agonist and kinin/prostaglandin-inducing proper...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1990.228
更新日期：1990-09-01 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：:Horvat and coauthors report on trends in living kidney transplantation in 69 countries, having assembled the data from registries, national societies, the medical literature, and direct contact with transplant centers. Assembling worldwide data on live-donor kidney transplants is a commendable accomplishment that serv...
journal_title：Kidney international
pub_type： 评论,杂志文章
doi：10.1038/ki.2009.23
更新日期：2009-05-01 00:00:00
abstract：BACKGROUND:In the United States, infection is second to cardiovascular disease as the leading cause of death in patients with end-stage renal disease (ESRD), and septicemia accounts for more than 75% of this category. This increased susceptibility to infections is partly due to uremia, old age, and comorbid conditions....
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1111/j.1523-1755.2000.00337.x
更新日期：2000-10-01 00:00:00
abstract：:Excess fatty acids accompanied by triglyceride accumulation in parenchymal cells of multiple tissues including skeletal and cardiac myocytes, hepatocytes, and pancreatic beta cells results in chronic cellular dysfunction and injury. The process, now termed lipotoxicity, can account for many manifestations of the 'meta...
journal_title：Kidney international
pub_type： 杂志文章,评审
doi：10.1038/sj.ki.5001834
更新日期：2006-11-01 00:00:00
abstract：:Chronic cyclosporine (CsA) nephrotoxicity is a major complication of heart, bone marrow, and renal transplantation, and is characterized in humans by striped interstitial fibrosis, tubular dilatation and atrophy, and hyalinization of hilar arterioles. This last feature is highly specific for cyclosporine injury and ha...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1995.311
更新日期：1995-08-01 00:00:00
abstract：:We demonstrate that salts of diatrizoate and iothalamate, radiographic contrast agents, depress the active transport of sodium in the urinary bladder of the Columbian toad, Bufo marinus. Isolated toad bladders were incubated in isotonic Ringer's solutions with isosmolar displacement of sodium chloride by contrast medi...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1975.11
更新日期：1975-02-01 00:00:00
abstract：BACKGROUND:The glomerular podocyte is the kidney cell most affected during the development of nephrotic syndrome, and mutations in podocyte proteins are responsible for a variety of inherited forms of nephrotic syndrome. Although glucocorticoids are a primary treatment for nephrotic syndrome, neither their target cell ...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1111/j.1523-1755.2005.00205.x
更新日期：2005-04-01 00:00:00
abstract：BACKGROUND:Cardiovascular disease is the most frequent cause of mortality in chronic renal failure (CRF). Therefore, it is important to identify appropriate treatment measures. The antioxidant N-acetylcysteine (NAC) has been shown to reduce cardiovascular events in hemodialysis patients. Here we examine a possible dire...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1111/j.1523-1755.2005.00332.x
更新日期：2005-06-01 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：:Extracellular fluid volume expansion is known to produce exaggerated natriuresis in essential hypertension. In order to assess the role of hemodynamic and intrarenal physical factors upon natriuretic response to central volume expansion, two hour water immersion (WI) experiments were made in six uncomplicated essentia...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1988.79
更新日期：1988-04-01 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：:From August 1987 through February 1995 we performed 42 surgical procedures in 29 patients with occluded or stenotic radiocephalic arteriovenous fistulae. Operations were designed to preserve native veins for cannulation (Group I) or to preserve access in the same forearm, bypassing the failed fistula (Group II). For 2...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.1998.00769.x
更新日期：1998-02-01 00:00:00
abstract：:During online hemodiafiltration, patients are directly infused with sterile substitution solutions to maintain fluid balance. Adequate water treatment and a well-organized quality control process are essential to provide non-pyrogenic fluids with consistent optimal quality. We sought to assess water quality, the water...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.2009.245
更新日期：2009-09-01 00:00:00
abstract：BACKGROUND:Diabetic nephropathy is commonly associated with renal salt and water retention and hypertension. The molecular mechanisms involved and how the kidney responds to this volume expansion, in terms of renal transporter regulation, are not understood. METHODS:Targeted proteomics employing semiquantitative immun...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.2002.00353.x
更新日期：2002-06-01 00:00:00
abstract：:Recent studies suggest the presence of local angiotensin generating system in the kidney. By using in situ hybridization technique, mRNA for angiotensinogen has been shown to be present in the proximal tubule. In the present study, we have attempted to examine the production of angiotensinogen and renin-like activity ...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1038/ki.1991.117
更新日期：1991-05-01 00:00:00
abstract：:The presence of nitric oxide (NO) in the kidney has been implicated in the pathogenesis of human glomerulonephritis. However, the exact type of glomerular cells that express NO synthase (NOS) and the NOS isoform involved in the local production of NO has not been identified in the human diseased kidney. We examined th...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.1998.00907.x
更新日期：1998-06-01 00:00:00
abstract：:The treatment of hyperphosphatemia remains challenging in patients receiving hemodialysis. This Phase 1b study assessed safety and efficacy of EOS789, a novel pan-inhibitor of phosphate transport (NaPi-2b, PiT-1, PiT-2) on intestinal phosphate absorption in patients receiving intermittent hemodialysis therapy. Two cro...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1016/j.kint.2020.09.035
更新日期：2020-10-30 00:00:00
abstract：BACKGROUND:Middle molecules such as beta2-microglobulin (beta2M) and advanced glycation end products (AGE)-modified proteins contribute to inflammation in uremia. The BetaSorb column is a new adsorptive device, which contains copolymeric beads, suitable for removal of beta2M and other middle molecules. We assessed the ...
journal_title：Kidney international
pub_type： 杂志文章
doi：10.1046/j.1523-1755.2003.00839.x
更新日期：2003-03-01 00:00:00
abstract：:Neutrophil gelatinase-associated lipocalin (Ngal, 24p3, SIP24, lipocalin 2, or siderocalin) was originally purified from neutrophils, but with unknown function. Recently, it was identified that Ngal activates nephron formation in the embryonic kidney, is rapidly and massively induced in renal failure and possesses kid...
journal_title：Kidney international
pub_type： 杂志文章,评审
doi：10.1038/sj.ki.5002165
更新日期：2007-05-01 00:00:00
