Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome?

Abstract:

:Thomas syndrome is a rare syndrome including Potter sequence, renal anomalies, heart defects, cleft palate with other oropharyngeal anomalies. Here, we report a newborn with Potter sequence, bilateral renal hypoplasia and cystic dysplasia, multiple cardiovascular malformations, long large ears, frontal bossing, small lips, partial simple toe syndactyly, and cleft palate. To our best knowledge, this patient may be considered as a new variant of Thomas syndrome or a new syndrome.

journal_name

Ren Fail

journal_title

Renal failure

authors

Ozkaya H,Akcan AB,Aydemir G,Aydınöz S,Kul M,Karademir F,Süleymanoğlu S

doi

10.3109/0886022X.2011.585414

subject

Has Abstract

pub_date

2011-01-01 00:00:00

pages

635-8

issue

6

eissn

0886-022X

issn

1525-6049

journal_volume

33

pub_type

杂志文章
  • Vitamin D deficiency, insulin resistance, and ventricular hypertrophy in the early stages of chronic kidney disease.

    abstract:BACKGROUND:Chronic kidney disease (CKD) is associated with markedly increased cardiovascular (CV) risk. This increase is not fully explained by traditional CV risk factors but may in part be mediated by nontraditional risk factors, such as inadequate vitamin D (vit D) levels and insulin resistance (IR). Although IR is ...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2013.832308

    authors: Lai S,Coppola B,Dimko M,Galani A,Innico G,Frassetti N,Mariotti A

    更新日期:2014-02-01 00:00:00

  • Clinical and ultrasonographical characterization of childhood cystic kidney diseases in Egypt.

    abstract:BACKGROUND:Renal cystic disorders (RCD) constitute an important and leading cause of end-stage renal disease (ESRD) in children. It can be acquired or inherited; isolated or associated with extrarenal manifestations. The precise diagnosis represents a difficult clinical challenge. METHODS:The aim of this study was to ...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2014.883996

    authors: Soliman NA,Nabhan MM,Bazaraa HM,Badr AM,Shaheen M

    更新日期:2014-06-01 00:00:00

  • Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.

    abstract:BACKGROUND:Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria, and continuously progressive renal failure are common manifestat...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/0886022X.2020.1818578

    authors: Zhang R,Chen Z,Lang Y,Shao S,Cai Y,You Q,Sun Y,Wang S,Shi X,Liu Z,Guo W,Han Y,Shao L

    更新日期:2020-11-01 00:00:00

  • Role of glutathione for cisplatin nephrotoxicity in young and adult rats.

    abstract::Investigations were done in 10- and 55-day-old Wistar rats. Glutathione (GSH) level in kidney was decreased by 8 mmol buthionine sulfoximine (BSO)/100 g BW. There was no effect on the renal function and nephrotoxicity of cisplatin (0.6 mg CP/100 g BW) in adult rats. In young rats BSO treatment was followed by nephroto...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/08860229309046144

    authors: Appenroth D,Winnefeld K

    更新日期:1993-01-01 00:00:00

  • A Behçet case with renal amyloidosis.

    abstract::Behçet's disease is a chronic systemic vasculitis with unknown etiology characterized by recurrent oral and genital ulcerations, ocular inflammation,having manifestations related to the skin and joints. Neurologic, pulmonary and gastrointestinal findings can also be observed during the course of the disease. In this r...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1081/jdi-120018734

    authors: Nadir I,Gültekin F,Yönem O,Yildiz E

    更新日期:2003-03-01 00:00:00

  • Regeneration of peritoneal mesothelium in a rat model of peritoneal fibrosis.

    abstract:BACKGROUND:Patients on long-term peritoneal dialysis develop progressive peritoneal fibrosis and loss of mesothelial layer. Regeneration of the mesothelium has been reported in the normal peritoneum but not the fibrotic peritoneum. Moreover, the origin of the regenerated mesothelial cells remains obscure. The aim of th...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/08860220701741619

    authors: Nishioka Y,Miyazaki M,Abe K,Furusu A,Harada T,Ozono Y,Taguchi T,Koji T,Kohno S

    更新日期:2008-01-01 00:00:00

  • Role of serotonin in the regulation of renal proximal tubular epithelial cells.

    abstract::In various renal injuries, tissue damage occurs and platelet activation is observed. Recent studies suggest that some factors, such as serotonin, are released into microenvironment upon platelet activation following renal injury. In the present study, we aimed to investigate whether platelets and platelet-released ser...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/0886022X.2016.1194165

    authors: Erikci A,Ucar G,Yabanoglu-Ciftci S

    更新日期:2016-08-01 00:00:00

  • The SHR as a small animal model for radiocontrast renal failure. Relation of nephrotoxicity to animal's age, gender, strain, and dose of radiocontrast.

    abstract::The male spontaneously hypertensive rat (SHR), as it ages, suffers many of the renal and cardiovascular complications that are recognized in humans as risk factors for radiocontrast (RC) agent induced renal failure (RF). Knowledge of this led us to test this strain of rats as a small animal model for RC-induced renal ...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/08860229709037213

    authors: Duarte CG,Zhang J,Ellis S

    更新日期:1997-11-01 00:00:00

  • Acute kidney injury in patients with pyogenic liver abscess.

    abstract::Incidence of acute kidney injury (AKI) in patients with pyogenic liver abscess is rare. In our study we found AKI in 32.6% of patients with liver abscess. Majority of the patients were in their fifties and sixties. As per acute kidney injury network trial criteria, renal failure was in stage 1 in 26.6%, stage 2 in 40%...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2011.569108

    authors: Sriramnaveen P,Sridhar A,Sandeep Y,Krishnakishore C,Sainaresh V,Manjusha Y,Sivakumar V

    更新日期:2011-01-01 00:00:00

  • Amino acid supplementation to hyperalimentation in uremic rats: effects of amount and composition of amino acids on nutrition and uremia.

    abstract::We evaluated amount and composition of amino acids in supplementation of hyperalimentation from the standpoint of whether it may improve nutrition and/or reduce the indexes of uremia such as BUN. Rats with established uremia, by 5/6 nephrectomy, were treated with various isocaloric solutions containing different amoun...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/08860229409044861

    authors: Kikuchi T,Tanaka H,Kokuba Y,Sato M

    更新日期:1994-01-01 00:00:00

  • Monitor lizard bite-induced acute kidney injury--a case report.

    abstract::Envenomations by venomous lizards are rare. Monitor lizard bite-induced acute kidney injury (AKI) is a previously unreported complication in humans. A 55-year-old female was bitten on her right leg during farming activity by a monitor lizard (Varanus bengalensis). The patient experienced severe local pain and bleeding...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2013.868223

    authors: Vikrant S,Verma BS

    更新日期:2014-04-01 00:00:00

  • Lipoprotein-A and carotid intima media thickness as cardiovascular risk factors in patients of chronic kidney disease.

    abstract::Patients in all stages of chronic kidney disease (CKD) are considered in the "high-risk group" for development of cardiovascular disease (CVD). The study was undertaken in 60 adult patients of chronic renal failure. The patients were divided into three groups: Group I had subjects with CKD (stages 1 and 2); Group II h...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2010.486097

    authors: Aggarwal HK,Jain D,Lathar M,Yadav RK,Sawhney A

    更新日期:2010-07-01 00:00:00

  • Epidemiologic trend changes in acute renal failure--a tertiary center experience from South India.

    abstract:BACKGROUND:There are little data on the incidence of acute renal failure (ARF) from India due to the absence of central registry. The etiology, course, and outcome of ARF differ in various parts of India. Significant trend changes were reported even within a same center over a period of time. AIM:To find out the epide...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/08860220600689034

    authors: Jayakumar M,Prabahar MR,Fernando EM,Manorajan R,Venkatraman R,Balaraman V

    更新日期:2006-01-01 00:00:00

  • Assessment of hemodialysis adequacy by ionic dialysance: comparison to standard method of urea removal.

    abstract:BACKGROUND:The hemodialysis adequacy is one of the most important issues influencing the survival of patients on maintenance hemodialysis (HD). Assessment of measuring the delivered dialysis dose using clearance x time/volume (Kt/V) index requires multiple blood sampling. New methods for assessment of dialysis dose bas...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/08860220500200262

    authors: Racki S,Zaputović L,Maleta I,Grzetić M,Mavrić Z,Devcić B,Vujicić B

    更新日期:2005-01-01 00:00:00

  • Mortality risk factors in chronic renal failure patients after coronary artery bypass grafting.

    abstract::Perioperative risk during coronary artery bypass grafting (CABG) is high in patients with chronic renal disease. We aimed to determine postoperative two-year mortality and identify the preoperative risk factors of mortality during CABG surgery in hemodialysis (HD)-dependent and HD-non-dependent CRF patients. We includ...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/08860220701573525

    authors: Akman B,Bilgic A,Sasak G,Sezer S,Sezgin A,Arat Z,Ozdemir FN,Haberal M

    更新日期:2007-01-01 00:00:00

  • Isolation, characterization, and evaluation of metallothionein in renal transplant patients.

    abstract::The plasma metallothionein concentration was studied in renal transplant patients. These patients are submitted to an attack of free radicals catalyzed by metals such as copper, zinc, cadmium, and others. The function of metallothionein is to bind toxic metals inhibiting the attack of free radicals and oxidative stres...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1081/jdi-120024287

    authors: Martín Mateo MC,Herreros C,Melero R,Bustamante J

    更新日期:2003-09-01 00:00:00

  • Higher thrombin activatable fibrinolysis inhibitor levels are associated with inflammation in attack-free familial Mediterranean fever patients.

    abstract:BACKGROUND:Coagulation abnormalities have been reported in familial Mediterranean fever (FMF) patients with amyloidosis and nephrotic syndrome; but there is not enough data about the continuity of the thrombogenic activity in FMF patients in clinical remission. The purpose of this study was to assess thrombin activatab...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2014.886935

    authors: Bavbek N,Ceri M,Akdeniz D,Kargili A,Duranay M,Erdemli K,Akcay A,Guz G

    更新日期:2014-06-01 00:00:00

  • The incidence of acute kidney injury in patients with traumatic brain injury.

    abstract::There is limited information on the incidence of acute kidney injury (AKI) in patients with traumatic brain injury (TBI) although AKI may contribute to morbidity and mortality. We investigated the incidence of AKI in patients with moderate and severe TBI and the association of AKI with risk factors and outcomes in the...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2010.510234

    authors: Moore EM,Bellomo R,Nichol A,Harley N,Macisaac C,Cooper DJ

    更新日期:2010-01-01 00:00:00

  • Bone mineral density in patients on maintenance hemodialysis and effect of chronic hepatitis C virus infection.

    abstract:OBJECTIVE:To determine the prevalence of osteopenia and osteoporosis in HD patients at our center; to investigate whether HCV infection affects BMD in hemodialysis patients; to test for correlations between bone mineral density (BMD) and clinical and laboratory parameters in this population. SUBJECTS AND METHODS:The s...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1081/jdi-120038501

    authors: Yücel AE,Kart-Köseoglu H,Isiklar I,Kuruinci E,Ozdemir FN,Arslan H

    更新日期:2004-03-01 00:00:00

  • Ten years' experience in subtotal parathyroidectomy of hemodialysis patients.

    abstract::Secondary hyperparathyroidism (SHP) is a frequent complication of long-term dialysis patients, and surgical parathyroidectomy remains necessary in patients resistant to medical therapy. The present paper reports single center results in subtotal parathyroidectomy, presenting diagnostic procedure, indications for parat...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:

    authors: Jovanovic DB,Pejanovic S,Vukovic L,Djukanovic L,Jankovic R,Kalezic N,Paunovic I,Zivaljevic V

    更新日期:2005-01-01 00:00:00

  • Which parameter is more influential on the development of arteriosclerosis in hemodialysis patients?

    abstract::Arteriosclerosis is characterized by stiffening of arteries. The incremental elastic modulus (Einc) measurement is a good marker of arterial wall stiffness. Metabolic, inflammatory and hemodynamic alterations cause structural changes and vascular complications in end stage renal disease. The aim of the present study w...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1081/jdi-120026036

    authors: Seyrek N,Balal M,Karayaylali I,Paydaş S,Aikimbaev K,Cetiner S,Seydaoglu G

    更新日期:2003-11-01 00:00:00

  • Hepatitis G virus infection in hemodialysis patients from urban Delhi.

    abstract::This study was designed to evaluate the seroprevalence of hepatitis G virus (HGV) infection, its impact, and its relationship with other hepatotropic viruses among chronic renal failure patients undergoing hemodialysis at the Lok Nayak Hospital, New Delhi. The study group consisted of 100 consecutive cases of patients...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:

    authors: Kumar D,Arora A,Singh NP,Kohli R,Kar P,Das BC

    更新日期:2005-01-01 00:00:00

  • Long-term intravenous calcitriol in secondary hyperparathyroidism: the role of technetium-99m-MIBI scintigraphy in predicting the response to treatment.

    abstract:BACKGROUND:Despite the effectiveness of intravenous calcitriol in suppressing parathyroid hormone secretion in patients with uremic hyperparathyroidism, 50% of the patients remain refractory to this treatment. There are conflicting reports regarding the factors that can predict the response to treatment. Technetium-99m...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1081/jdi-120004093

    authors: Owda AK,Mousa D,Abdallah AH,Hawas FA,Al-Harbi W,Fedail H,At-Shoail G,Al-Sulaiman MH,Al-Khader AA

    更新日期:2002-03-01 00:00:00

  • Characterization of gentamicin-induced dysfunctions in vitro: the use of optimized primary cultures of rabbit proximal tubule cells.

    abstract::Compared to prior studies which frequently pinpoint the impairment of one parameter or function, this paper reports for the first time an extensive characterization of the toxic effects of gentamicin in a single model of primary cultured rabbit proximal tubule cells developed without insulin and glucose. Biochemical, ...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/08860229309054962

    authors: Monteil C,Leclere C,Fillastre JP,Morin JP

    更新日期:1993-01-01 00:00:00

  • Low-dose intravenous iron administration in chronic hemodialysis patients treated with recombinant human erythropoietin.

    abstract::We conducted a prospective study to determine the effect of intravenous low-dose iron administration in chronic hemodialysis patients treated with recombinant human erythropoietin (rHuEPO). Sixteen hemodialysis patients (8 males and 8 females; mean age 63.1+/-9.8 years) on maintenance rHuEPO therapy were included in t...

    journal_title:Renal failure

    pub_type: 临床试验,杂志文章

    doi:10.1081/jdi-120004103

    authors: Harmankaya O,Eran A

    更新日期:2002-03-01 00:00:00

  • Anemia development and cardiovascular risk management in nonanemic stage 3 chronic kidney disease.

    abstract:BACKGROUND/AIM:There is little information on the development of anemia in the early stages of chronic kidney disease. The aim of this study was to analyze the onset of renal anemia in a cohort of initially nonanemic chronic kidney disease patients followed up in nephrology clinics. METHODS:This epidemiological, prosp...

    journal_title:Renal failure

    pub_type: 杂志文章,多中心研究

    doi:10.3109/08860220903216063

    authors: Portolés J,Castelao AM,Gorriz JL,Tato AM,de Alvaro F

    更新日期:2009-01-01 00:00:00

  • Neutrophil gelatinase-associated lipocalin as a follow-up marker in critically ill pediatric patients with established acute kidney injury.

    abstract:AIM:To assess the utility of neutrophil gelatinase-associated lipocalin (NGAL) in both urine and serum as a follow-up marker for the discrimination of prerenal acute kidney injury (AKI) from intrinsic AKI in critically ill pediatric patients with established AKI at the time of patient presentation. PATIENTS AND METHOD...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2013.764273

    authors: Polat M,Fidan K,Derinöz O,Gönen S,Söylemezoglu O

    更新日期:2013-01-01 00:00:00

  • Acute renal failure following bone marrow transplantation.

    abstract::Acute renal failure (ARF) is one of the most frequent and potentially life threatening complications following bone marrow transplantation (BMT). Several renal syndromes that occur are either unique or occur with a disproportionate frequency post-BMT. Clinically ARF can be classified according to the time of onset pos...

    journal_title:Renal failure

    pub_type: 杂志文章,评审

    doi:10.3109/08860229809045131

    authors: Pulla B,Barri YM,Anaissie E

    更新日期:1998-05-01 00:00:00

  • Burnout levels of hemodialysis nurses.

    abstract:BACKGROUND:Previous studies have found significant stressors experienced by nurses working in hemodialysis units. The purpose of this study was to determine the burnout levels of hemodialysis nurses working in hemodialysis units and their relation with some sociodemographic variables. METHODS:The study was conducted b...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.3109/0886022X.2014.917559

    authors: Kavurmacı M,Cantekin I,Tan M

    更新日期:2014-08-01 00:00:00

  • The role of mitofilin in left ventricular hypertrophy in hemodialysis patients.

    abstract::Left ventricular hypertrophy (LVH) is a common abnormality in hemodialysis (HD) patients. Mitochondrial dysfunction contributes to the progression of LVH. As an inner mitochondrial membrane structural protein, mitofilin plays a key role in maintaining mitochondrial structure and function. The aim of this study was to ...

    journal_title:Renal failure

    pub_type: 杂志文章

    doi:10.1080/0886022X.2018.1456455

    authors: Wu QS,He Q,He JQ,Chao J,Wang WY,Zhou Y,Lou JZ,Kong W,Chen JF

    更新日期:2018-11-01 00:00:00