Abstract:
:Congenital nephrotic syndrome is clinically and genetically heterogeneous. The majority of cases can be attributed to mutations in the genes NPHS1, NPHS2, and WT1. By homozygosity mapping in a consanguineous family with isolated congenital nephrotic syndrome, we identified a potential candidate region on chromosome 3p. The LAMB2 gene, which was recently reported as mutated in Pierson syndrome (microcoria-congenital nephrosis syndrome; OMIM #609049), was located in the linkage interval. Sequencing of all coding exons of LAMB2 revealed a novel homozygous missense mutation (R246Q) in both affected children. A different mutation at this codon (R246W), which is highly conserved through evolution, has recently been reported as causing Pierson syndrome. Subsequent LAMB2 mutational screening in six additional families with congenital nephrotic syndrome revealed compound heterozygosity for two novel missense mutations in one family with additional nonspecific ocular anomalies. These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome. This phenotypic variability likely reflects specific genotypes. We conclude that mutational analysis in LAMB2 should be considered in congenital nephrotic syndrome, if no mutations are found in NPHS1, NPHS2, or WT1.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Hasselbacher K,Wiggins RC,Matejas V,Hinkes BG,Mucha B,Hoskins BE,Ozaltin F,Nürnberg G,Becker C,Hangan D,Pohl M,Kuwertz-Bröking E,Griebel M,Schumacher V,Royer-Pokora B,Bakkaloglu A,Nürnberg P,Zenker M,Hildebrandt Fdoi
10.1038/sj.ki.5001679subject
Has Abstractpub_date
2006-09-01 00:00:00pages
1008-12issue
6eissn
0085-2538issn
1523-1755pii
S0085-2538(15)52063-2journal_volume
70pub_type
杂志文章abstract::The sympathetic nervous system modulates renal function through its receptors namely beta1 (cardiac output and renin release), alpha1 (systemic and renovascular constriction), and beta2 renovascular dilation. Sympathetic overactivity is commonly seen in chronic kidney disease (CKD) and is an important contributor to i...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/sj.ki.5001835
更新日期:2006-12-01 00:00:00
abstract::The microvillus brush border on the renal proximal tubule epithelium allows the controlled reabsorption of solutes that are filtered through the glomerulus and thus participates in general body homeostasis. Here, using the lipid 5-phosphatase Ship2 global knockout mice, proximal tubule-specific Ship2 knockout mice, an...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.01.008
更新日期:2017-07-01 00:00:00
abstract::We studied the glomerular architecture in renal biopsies of 95 patients undergoing bariatric surgery for extreme obesity but whose renal function was normal. The comparison group was 40 control patients having protocol biopsies. These latter patients had normal weight and renal function, were non-diabetic, non-hyperte...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5002796
更新日期:2008-04-01 00:00:00
abstract::Urinary proteomics is a promising tool for biomarker investigation, particularly in complex kidney diseases. Fabris and colleagues report that urinary laminin subunit alpha-2 is a potential diagnostic marker of medullary sponge kidney (MSK) disease by using a label-free quantitative proteomics platform and a clinicall...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2016.10.032
更新日期:2017-02-01 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::Antioxidants have been used as therapies to decrease oxidative stress and improve CVD risk in hemodialysis (HD) patients. A systematic search of the Medline database (search date 30 April 2011) found 56 studies investigating the effects of antioxidant therapies on biomarkers of oxidative stress (53 studies) or clinica...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/ki.2011.341
更新日期:2012-02-01 00:00:00
abstract::The impact of dialysis on cognitive trends is uncertain. Kurella Tamura et al. evaluated cognitive trajectories in 212 participants from the Chronic Renal Insufficiency Cohort study and found that dialysis initiation was associated with a decline in executive function. This is consistent with a cerebrovascular basis f...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1016/j.kint.2017.01.022
更新日期:2017-04-01 00:00:00
abstract::Nephropathic cystinosis is a multisystem autosomal recessive disease caused by cystine accumulation, which is usually treated by oral cysteamine. In order to determine long-term effects of this therapy, we enrolled 86 adult patients (mean age 26.7 years) diagnosed with nephropathic cystinosis, 75 of whom received cyst...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2011.277
更新日期:2012-01-01 00:00:00
abstract::From September 9 to October 3, 1994, five patients on maintenance hemodialysis in a dialysis unit in Tokyo contracted hepatitis B virus (HBV) infection successively, and four of them died of fulminant hepatitis. The unit treated 181 patients three times a week on eight shifts, and all five afflicted patients were on t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.499
更新日期:1995-12-01 00:00:00
abstract::Experimental studies have demonstrated the cardinal role played by the mononuclear phagocyte system in the removal of antigen-antibody complexes. To assess the functional capacity of phagocytes in patients with renal disease, 33 normal subjects, 10 patients with mesangial proliferative glomerulonephritis, 8 patients w...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1983.105
更新日期:1983-06-01 00:00:00
abstract::Primary hyperoxaluria type I (PH I) is a congenital error of metabolism that can be manifested by an increased oxalate production, and ultimately result in kidney failure. After a combined liver/kidney transplantation, children with PH I have persistent excretion of oxalate that causes crystal formation in the urinary...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00876.x
更新日期:1998-05-01 00:00:00
abstract::Unilateral ureteral obstruction results in marked changes in renal function throughout the nephron, including impaired acid and potassium secretion and salt wastage. The nephron site believed responsible for the acidification defect is the collecting duct. It has been presumed, although not demonstrated, that the cell...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.11
更新日期:1990-01-01 00:00:00
abstract::The kidney is a likely source for some urinary epinephrine (E) since adrenalectomized animals and humans continue to excrete urinary E and the human kidney contains E synthesizing enzymes. We studied subjects during an intravenous infusion of 3H-E to determine the fraction of urinary E derived from the kidney. Eight n...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1997.40
更新日期:1997-01-01 00:00:00
abstract:BACKGROUND:Aldosterone has been suggested to play a role in the initiation and progression of diabetic nephropathy. Currently recommended treatment with angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers [renin-angiotensin system (RAS) blockade] does not suppress circulating aldosterone ...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1523-1755.2005.00756.x
更新日期:2005-12-01 00:00:00
abstract:BACKGROUND:Chronic oversecretion of parathyroid hormone (PTH) is associated with parathyroid hyperplasia, reflecting a disturbed balance between cell proliferation and apoptosis. This study addressed the unsolved issue of apoptosis in hyperparathyroidism. METHODS:Parathyroid glands from 19 patients with primary (1 deg...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2000.00863.x
更新日期:2000-02-01 00:00:00
abstract::Chronic metabolic acidosis (CMA) is a major cause of growth defect, implying disturbances of protein metabolism. Previously, in vivo studies performed in the fasting state showed enhanced whole body protein turnover, whereas in vitro studies showed unchanged muscle protein synthesis. The present study is the first to ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1994.472
更新日期:1994-12-01 00:00:00
abstract::The safety of dietary protein and phosphorous restriction was evaluated in the Modification of Diet in Renal Disease (MDRD) Study. In Study A, 585 patients with a glomerular filtration rate (GFR) of 25 to 55 ml/min/1.73 m2 were randomly assigned to a usual-protein diet (1.3 g/kg/day) or a low-protein diet (0.58 g/kg/d...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1038/ki.1997.395
更新日期:1997-09-01 00:00:00
abstract::Vascular sclerosis is often seen in renal biopsies. It is usually associated with diabetes mellitus, hypertension, smoking, etc. However, whether inherited thrombophilic states such as factor V gene mutation, prothrombin gene mutation, and methylenetetrahydrofolate reductase (MTHFR) gene mutation are associated with t...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5001551
更新日期:2006-08-01 00:00:00
abstract::Transport and metabolism of adenosine were studied in the S1, S2, and S3 segments of the rabbit proximal renal tubule. Isolated segments were perfused in vitro with uniformly labelled 14C-adenosine to measure the lumen-to-bath flux of adenosine. This flux rate was measured by the disappearance of 14C from the luminal ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.174
更新日期:1992-05-01 00:00:00
abstract:BACKGROUND:The hypothesis that angiotensin-converting enzyme (ACE) inhibitors interfere with the treatment of anemia with recombinant human erythropoietin (rHuEPO) remains controversial. To test this hypothesis, a retrospective analysis was conducted in a large group of hemodialysis patients with renal anemia. METHODS...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.00028.x
更新日期:2001-11-01 00:00:00
abstract::Disturbances in mineral and bone metabolism are prevalent in chronic kidney disease (CKD) and are an important cause of morbidity, decreased quality of life, and extraskeletal calcification that have been associated with increased cardiovascular mortality. These disturbances have traditionally been termed renal osteod...
journal_title:Kidney international
pub_type: 共识发展会议,杂志文章
doi:10.1038/sj.ki.5000414
更新日期:2006-06-01 00:00:00
abstract:BACKGROUND:Protein-calorie malnutrition is common in chronic hemodialysis (CHD) patients and correlates with morbidity and mortality in these patients. There are limited trials evaluating the efficacy of oral nutritional supplementation in malnourished CHD patients. METHODS:Eighty-five CHD patients with evidence of ma...
journal_title:Kidney international
pub_type: 临床试验,杂志文章
doi:10.1046/j.1523-1755.2002.00530.x
更新日期:2002-09-01 00:00:00
abstract::The neonatal proximal tubule has a lower rate of bicarbonate absorption than that of adults. This is due, in part, to a lower rate of apical membrane Na+/H+ antiporter activity. The purpose of these studies was to examine if thyroid hormone could be a factor in the maturational increase in Na+/H+ antiporter activity. ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1998.00879.x
更新日期:1998-05-01 00:00:00
abstract::Fibroblast growth factor 23 (FGF23) is a phosphate-regulating hormone that acts primarily on the kidney and parathyroid. With declining kidney function there is an increase in circulating FGF23 levels, which is associated with vascular calcification and mortality in chronic kidney disease. Whether FGF23 exerts direct ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2013.332
更新日期:2014-05-01 00:00:00
abstract::Many xenobiotics including the pharmacoenhancer cobicistat increase serum creatinine by inhibiting its renal active tubular secretion without affecting the glomerular filtration rate. This study aimed to define the transporters involved in creatinine secretion, applying that knowledge to establish the mechanism for xe...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2014.66
更新日期:2014-08-01 00:00:00
abstract::The Executive Summary of the KDIGO Clinical Practice Guideline for the Care of Kidney Transplant Recipients is presented in this issue of Kidney International. This guideline will require careful attention for implementation in the context of available resources within each country, especially those with underdevelope...
journal_title:Kidney international
pub_type: 评论,杂志文章
doi:10.1038/ki.2009.468
更新日期:2010-02-01 00:00:00
abstract:BACKGROUND:Fractalkine is a newly identified T-cell and monocyte/macrophage (Mphi) chemokine with a transmembrane domain and is a cell-surface protein on activated endothelium. It can mediate adhesion of cells expressing the fractalkine receptor CX3CR1. These unique features make fractalkine well suited for leukocyte r...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.1999.00604.x
更新日期:1999-08-01 00:00:00
abstract::With a lifetime incidence of up to 12% in man and 6% in woman, nephrolithiasis is a major health problem worldwide. Approximately, 80% of kidney stones are composed of calcium and hypercalciuria is found in up to 40% of stone-formers. Although the mechanisms resulting in precipitation and growth of calcium crystals in...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/sj.ki.5002441
更新日期:2007-11-01 00:00:00
abstract::The association between dietary sodium and potassium intake with the development of kidney disease remains unclear, particularly among younger individuals. Here, we determined whether dietary sodium and potassium intake are associated with incident chronic kidney disease (CKD) using data from 1,030 adults (age 23-35 i...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2020.02.037
更新日期:2020-07-01 00:00:00
abstract::Tubular atrophy and interstitial fibrosis, important in progression of renal diseases, including diabetic (D) and cyclosporine-induced (CSA) nephropathy, have been considered irreversible. Normoglycemia for 10 years following pancreas transplantation alone (PTA) reversed D glomerulopathy lesions. This study quantified...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000153
更新日期:2006-03-01 00:00:00