Abstract:
BACKGROUND:Renal tract malformations are, on occasion, associated with uterine malformations. The transcription factor hepatocyte nuclear factor (HNF)-1beta is expressed from the earliest stages of development of the Wolffian duct, the mesonephros and metanephros, and the Müllerian ducts in the mouse. In adult mice HNF-1beta is expressed in the kidney tubules, collecting ducts, and in the oviducts and uterus in the female (Müllerian duct derivatives) and in the epididymis, vas deferens and seminal vesicles (Wolffian duct derivatives) in the male. HNF-1beta mutations have been reported in two families where affected members have renal abnormalities, female genital tract malformations and early-onset diabetes. Renal and uterine abnormalities have not been described in families without early-onset diabetes. METHODS:We sequenced the HNF-1beta gene in nine subjects with renal abnormalities and a personal or family history of female genital tract malformations, but no history of diabetes. RESULTS:Two families were identified with novel HNF-1beta mutations: a missense mutation in exon 2 with conversion of serine to proline at codon 151 (S151P) and a frameshift mutation in exon 3 with a 1 base pair deletion at codon 243 (Q243fsdelC). The S151P mutation proband has cystic kidneys and uterus didelphys. Her affected second son has renal cysts and hypospadias. The Q243fsdelC proband has a single functioning kidney and her two children have renal dysplasia. Histology in one child shows cystic dysplasia with a lack of glomeruli. The proband's sister is a mutation carrier and has a bicornuate uterus. Diabetes is not a feature in either family. CONCLUSIONS:This study confirms an association between HNF-1beta mutations and renal and Müllerian anomalies. The hypospadias may be coincidental. This study describes the first HNF-1beta mutations that are associated with a single functioning kidney and the absence of diabetes. This study further reinforces the variability of the renal and non-renal phenotypes associated with HNF-1beta mutations.
journal_name
Kidney Intjournal_title
Kidney internationalauthors
Bingham C,Ellard S,Cole TR,Jones KE,Allen LI,Goodship JA,Goodship TH,Bakalinova-Pugh D,Russell GI,Woolf AS,Nicholls AJ,Hattersley ATdoi
10.1046/j.1523-1755.2002.00272.xsubject
Has Abstractpub_date
2002-04-01 00:00:00pages
1243-51issue
4eissn
0085-2538issn
1523-1755pii
S0085-2538(15)48345-0journal_volume
61pub_type
杂志文章abstract::The cardiorenal safety database from the Celecoxib Long-term Arthritis Safety Study (CLASS) was analyzed to examine whether supratherapeutic doses of celecoxib are associated with decreased renal function and blood pressure (BP) effects compared with standard doses of diclofenac and ibuprofen in osteoarthritis (OA) an...
journal_title:Kidney international
pub_type: 杂志文章,随机对照试验
doi:10.1038/sj.ki.5001766
更新日期:2006-10-01 00:00:00
abstract::Expression of the polycystin-1 C-terminal cytoplasmic tail increases Cl(-) channel activity in Xenopus oocytes. Background. Cyst expansion in autosomal-dominant polycystic kidney disease (ADPKD) is characterized by active Cl(-) secretion in excess of solute reabsorption. However, the connections between elevated epith...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2005.00441.x
更新日期:2005-08-01 00:00:00
abstract::The kallikrein-kininogen-kinin system (KKK) has been implicated in the renal sodium excretion response to changes in dietary sodium. However, both increases and decreases in the activity of this system have been observed when urinary sodium excretion is augmented by a variety of maneuvers. To further evaluate the pote...
journal_title:Kidney international
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1038/ki.1987.74
更新日期:1987-03-01 00:00:00
abstract:BACKGROUND:Systematic studies on safety and efficacy of enteral nutrition in patients with acute renal failure (ARF) are lacking. METHODS:We studied enteral nutrition-related complications and adequacy of nutrient administration during 2525 days of artificial nutrition in 247 consecutive patients fed exclusively by th...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00459.x
更新日期:2004-03-01 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::Mutations in the MYH9 gene, coding for the non-muscle myosin heavy chain IIA (NMHC-IIA), are responsible for syndromes characterized by macrothrombocytopenia associated with deafness, cataracts, and severe glomerular disease. Electron microscopy of renal biopsies from these patients found glomerular abnormalities char...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2011.256
更新日期:2011-11-01 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::On a typical Western diet, the body is faced with the generation of a metabolically derived acid load that must be excreted to maintain systemic acid-base balance. The kidney is responsible for this task and matches daily acid excretion with daily acid production. Multiple nephron segments are involved in the process,...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1038/sj.ki.5002543
更新日期:2007-12-01 00:00:00
abstract:BACKGROUND:Mice overexpressing thymic stromal lymphopoietin (TSLP) develop mixed cryoglobulinemia with renal disease closely resembling human cryoglobulin-associated membranoproliferative glomerulonephritis (MPGN), including glomerular deposits of immunoglobulins and complement. We assessed the effect of complement inh...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1111/j.1523-1755.2004.00495.x
更新日期:2004-04-01 00:00:00
abstract::The effect of intravenous infusion of angiotensin II on microvascular parameters of the renal microcirculation of rats was studied. With the aid of fluorescence microscopy and a high sensitivity video system we observed the passage of fluorescence-labeled erythrocytes through single glomerular capillaries on the surfa...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1985.4
更新日期:1985-01-01 00:00:00
abstract::Methods for estimating glomerular volume were compared in Zenker-fixed, paraffin-embedded biopsies from 10 patients with insulin-dependent diabetes mellitus and 6 normal kidney donors. Two methods of measurement of individual glomerular volumes were used: the Cavalieri method (considered the "gold standard") and the m...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1992.165
更新日期:1992-04-01 00:00:00
abstract::Sirtuin 6 (SIRT6) is a NAD+-dependent deacetylase associated with numerous aspects of health and physiology. Overexpression of SIRT6 has emerged as a protector in cardiac tissues against pathologic cardiac hypertrophy. However, the mechanism of this protective effect is not fully understood. Here, both in vivo and in ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2017.10.021
更新日期:2018-04-01 00:00:00
abstract::Modern dietary habits are characterized by high-sodium and low-potassium intakes, each of which was correlated with a higher risk for hypertension. In this study, we examined whether long-term variations in the intake of sodium and potassium induce lasting changes in the plasma concentration of circulating steroids by...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.2011.15
更新日期:2011-08-01 00:00:00
abstract::The acutely injured mammalian kidney mounts a cellular and molecular response to repair itself. However, in patchy regions such intrinsic processes are impaired and dysregulated leading to chronic kidney disease. Currently, no therapy exists to treat established acute kidney injury per se. Strategies to augment human ...
journal_title:Kidney international
pub_type: 杂志文章,评审
doi:10.1016/j.kint.2017.07.030
更新日期:2018-01-01 00:00:00
abstract::This study examined the consequences of nephrectomy in United States Army personnel who lost a kidney due to trauma during World War II (WWII). Records of 62 servicemen who underwent nephrectomy at an average age of 25 years were obtained. Mortality was compared with that of WWII servicemen of the same age. Medical re...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.156
更新日期:1993-05-01 00:00:00
abstract::Leukocytes play a major role in the development and progression of autoimmune diseases. We measured gene expression differences in leukocytes from patients that were antineutrophil cytoplasmic autoantibody (ANCA) positive, patients with systemic lupus erythematosus (SLE) or rheumatoid arthritis (RA), and healthy donor...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5002371
更新日期:2007-10-01 00:00:00
abstract:BACKGROUND:Mesangial immunoglobulin A (IgA) deposition is incidentally encountered in asymptomatic individuals, but its precise frequency and significance had not been clarified. The background of the latent IgA deposition is related to the epidemiology and pathogenesis of IgA nephropathy. METHODS:Zero-hour allograft ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.63.6s.2.x
更新日期:2003-06-01 00:00:00
abstract::Alterations in myocardial wall texture stand out among ADPKD cardiovascular manifestations in hypertensive and normotensive patients. To elucidate their pathogenesis, we analyzed the cardiac phenotype in Pkd1(cond/cond)Nestin(cre) (CYG+) cystic mice exposed to increased blood pressure, at 5 to 6 and 20 to 24 weeks of ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.04.028
更新日期:2016-09-01 00:00:00
abstract::The pathologic and clinical features of 16 patients with dense intramembranous deposit disease are described. By light microscopy nine patients had membranoproliferative glomerulonephritis, five had focal segmental necrotizing glomerulonephritis with segmental epithelial crescents, four of whom also had a prominent tu...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1984.71
更新日期:1984-04-01 00:00:00
abstract::When the endotoxin-lipopolysaccharide (LPS) derived from the cell wall of gram-negative bacteria is given to the rat in vivo, there are prompt, marked decreases in glomerular filtration rate (GFR), renal blood flow (RBF) and % Na+ reabsorption (%T-Na+). However, it has not been determined whether the endotoxin itself ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1990.105
更新日期:1990-05-01 00:00:00
abstract::Thrombotic microangiopathy (TMA) is a poorly recognized cause of collapsing glomerulopathy. The frequency and significance of collapsing glomerulopathy associated with renal TMA have not been specifically studied in native kidney biopsy specimens. Here we retrospectively documented clinicopathologic features of 53 pat...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1016/j.kint.2016.07.021
更新日期:2016-12-01 00:00:00
abstract::Absorption of amino acids by the necturus proximal tubules was measured under free-flow conditions The coexistence of proximal tubular amino acid influx was determined by infusing saline into tubular lumens by the stopped-flow microperfusion technique. Under free-flow conditions, fractional absorption of individual am...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1978.67
更新日期:1978-06-01 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::The role of endogenous atrial natriuretic peptide (ANP) in the immediate response of sodium excretion to unilateral nephrectomy (UNX) was investigated in anesthetized euvolemic rats through measurement of UNX-induced change in plasma ANP concentration and the response of the remaining kidney to UNX following administr...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.178
更新日期:1993-06-01 00:00:00
abstract:BACKGROUND:The induction of stress response (heat shock) proteins (HSPs) is a highly conserved response that protects many cell types from diverse physiological and environmental stressors. We tested the hypothesis that the induction of HSPs is protective in experimental renal ischemia/reperfusion injury. METHODS:The ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1046/j.1523-1755.2001.0590051798.x
更新日期:2001-05-01 00:00:00
abstract::Although much emphasis has been placed on screening for albuminuria in type II diabetic patients, less attention has been focused on the role of glomerular filtration rate (GFR) in the assessment of risk. Herein, we examined the association between GFR and vascular complications in a consecutive cohort of 5174 type II...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/sj.ki.5000061
更新日期:2006-01-01 00:00:00
abstract::We examined the role of the plasminogen activator/plasmin system in extracellular matrix (ECM) degradation by human mesangial cells cultured on thin films of 125I-labeled ECM (Matrigel). ECM degradation (release of 125I into the medium) was dependent on exogenous plasminogen, proportional to the number of mesangial ce...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1995.150
更新日期:1995-04-01 00:00:00
abstract::We previously demonstrated that urinary endothelin excretion is increased in rats with extensive renal mass reduction, a model of progressive renal disease. Here we explored whether the increased urinary endothelin in this model were due to induction of renal pre-pro-endothelin-1 gene and whether changes in endothelin...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1993.53
更新日期:1993-02-01 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::In order to study the effects of acute ureteral obstruction on glomerular hemodynamics, glomerular hydrostatic capillary pressure (PG), pressure in the first-order peritubular capillaries (EAP), and intratubular pressure (PT) were directly measured in superficial nephrons on Munich-Wistar rats by micropuncture with a ...
journal_title:Kidney international
pub_type: 杂志文章
doi:10.1038/ki.1977.131
更新日期:1977-12-01 00:00:00