Early Renal Failure Research Articles

IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association

Ciliopathies are a wide and heterogeneous group of diseases affecting intraflagellar transport. Among them, Mainzer-Saldino syndrome (MSS) shows phalangeal cone-shaped epiphysis, renal disease and retinal involvement. Short stature, cerebellar ataxia and hepatic fibrosis might also be found.IFT140 is the most commonly reported mutation in MSS. We will report on the case of a patient with a clinical diagnosis of Mainzer-Saldino syndrome due to IFT144 dysfunction. This mutation has not been previously related to MSS but it has been found in other ciliopathies and both syndromic and non-syndromic retinitis pigmentosa.At birth our patient showed trigonocephaly, early progressive renal failure requiring transplant, intrahepatic biliary duct dilation, cone-shaped epiphyses, growth retardation and retinitis pigmentosa with mild ophthalmic impairment.The best corrected visual acuity reached 0.15/0.22 LogMAR. The posterior pole showed abnormal macular reflex, mild vascular attenuation in the periphery and diffuse pigmentary changes. Autofluorescence showed bull's eye signal increase. Computerized optic tomography assessed the absence of external retinal layers in the extrafoveal macula.In conclusion, IFT144 genetic study may be involved in MSS and thus must be considered for diagnosis. Mild ophthalmic symptomatology despite early onset retinitis pigmentosa in the context of MSS has been found in this case caused by IFT144 mutation.

History of Medicine: The Emergence of Intestinal Dialysis.

Abstract In 1923, Georg Ganter at the University of Würzburg performed the first peritoneal dialysis for patients with chronic kidney disease. During the period from 1924 to 1938, intermittent peritoneal dialysis was used in the USA and Germany as a short-term replacement for the renal functions. In 1946, Fine and colleagues described the use of peritoneal irrigation in a patient with severe anuria, who survived after four days of continuous peritoneal lavage. In 1943, a Dutch physician named Willem Kolff developed the first dialyzer which was called “Artificial kidney” with aim of cleaning the blood of patients with acute renal failure. Kolff moved to the USA and improved the early design of the dialyzer and was manufactured in the early 1950s. During the 1980s and 1990s, experimental studies on animals suggested that dietary fibers including acacia gum have a urea lowering effect (Yatzidis et al., 1980; Rampton et al., 1984; Tetens et al., 1996). In 1996, in 1996, Bliss et al. reported that the use of acacia gum supplementation in adult patients with asymptomatic early chronic renal failure on low protein diet was associated with urea lowering effect. The use of Intestinal dialysis in symptomatic chronic renal failure patients was first described by Aamir Jalal Al-Mosawi in 2002. The achievement of six-year dialysis freedom with the use of intestinal dialysis in patients with end-stage renal failure was described by Aamir Jalal Al-Mosawi in 2009. Late during the 2000s, “Only medical talks” web site included Aamir Jalal Al-Mosawi in the list of famous physicians of all time for describing intestinal dialysis [9]. During the previous two decades there have been a plethora of publications describing the concepts, principles and use of intestinal dialysis including journal articles, conference papers and books. Some of these publications have been translated to eight languages confirming that intestinal dialysis has become an established medical therapeutic technology. The aim of this paper is to review the milestones associated with intestinal dialysis which was considered by many experts as a Nobel Prize winning technology.

Early and late cardiovascular events in patients hospitalized for community-acquired pneumonia

IntroductionCommunity-acquired pneumonia increases the risk of cardiovascular events (CVE). The objective of this study was to analyze host, severity, and etiology factors associated with the appearance of early and late events and their impact on mortality. MethodProspective multicenter cohort study in patients hospitalized for pneumonia. CVE and mortality rates were collected at admission, 30-day follow-up (early events), and one-year follow-up (late events). ResultsIn total, 202 of 1967 (10.42%) patients presented early CVE and 122 (6.64%) late events; 16% of 1-year mortality was attributed to cardiovascular disease. The host risk factors related to cardiovascular complications were: age ≥ 65 years, smoking, and chronic heart disease. Alcohol abuse was a risk factor for early events, whereas obesity, hypertension, and chronic renal failure were related to late events. Severe sepsis and Pneumonia Severity Index (PSI) ≥ 3 were independent risk factors for early events, and only PSI ≥ 3 for late events. Streptococcus pneumoniae was the microorganism associated with most cardiovascular complications. Developing CVE was an independent factor related to early (OR 2.37) and late mortality (OR 4.05). ConclusionsAge, smoking, chronic heart disease, initial severity, and S. pneumoniae infection are risk factors for early and late events, complications that have been related with an increase of the mortality risk during and after the pneumonia episode. Awareness of these factors can help us make active and early diagnoses of CVE in hospitalized CAP patients and design future interventional studies to reduce cardiovascular risk.

An ultrasensitive Cystatin C renal failure immunosensor based on a PPy/CNT electrochemical capacitor grafted on interdigitated electrode

An interdigitated immunosensor for Cystatin C detection based on polypyrrole/carbon nanotube electrochemical capacitor is described. Cystatin C (CysC) is powerful biomarker for early acute renal failure and one predictive for cardiovascular risk, sepsis, cancer and death. Recently, electrochemical immunosensors based on interdigitated electrodes (IDE) have been successfully focused on development of point-of-care testing, due to their miniaturization facilities and higher sensitivity as compared with the screen-printed electrochemical sensing. Herein, a polypyrrole/carbon nanotube nanoyhibrid film was grafted on two gold fingers by electropolymerization obtaining a supercapacitor. Anti-CysC antibodies were immobilized on the IDE by covalent entrapment via ethylenediamine bifunctional agent, followed by glycine blocking in acid and alkaline medium. Under low frequency, capacitive effect of antigen-antibody interaction were observed by double layer capacitance, and analytical responses of this IDE immunosensor to CysC serum were obtained by changes on phase angle a linear range up to 300 ng/mL. The cutoff was calculated for serum samples showing a total reducing of non-specific binding at approximately 28 ng/mL CysC. This immunosensor based on interdigitated electrode (IDE) is a potential tools as portable device,with possibility to use as a practical and rapid test for CysC diagnostic in samples of serum.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

BackgroundSensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as well as skeletal, ectodermal, liver and renal anomalies. Progressive renal disease can be life-threatening in this condition. CED is a genetically heterogeneous disorder. Currently, variants in any of six genes (IFT122, WDR35, IFT140, IFT43, IFT52 and WDR19) have been associated with this syndrome. All of these genes encode proteins essential for intraflagellar transport (IFT) a process that is required for cilium assembly, maintenance and function. Intra- and interfamilial clinical variability has been reported in CED, which is consistent with CED’s genetic heterogeneity and is indicative of genetic background effects.ResultsTwo male CED patients from two unrelated Polish families were included in this study. Clinical assessment revealed distinctive clinical features of Sensenbrenner syndrome, such as dolichocephaly, shortening of long bones and early onset renal failure. Ectodermal anomalies also included thin hair, short and thin nails, and small teeth in both patients. Next generation sequencing (NGS) techniques were performed in order to determine the underlying genetic cause of the disorder using whole exome sequencing (WES) for patient 1 and a custom NGS-based panel for patient 2. Subsequent qPCR and duplex PCR analysis were conducted for both patients. Genetic analyses identified compound heterozygous variants in the IFT140 gene in both affected individuals. Both patients harbored a tandem duplication variant p.Tyr1152_Thr1394dup on one allele. In addition, a novel missense variant, p.(Leu109Pro), and a previously described p.(Gly522Glu) variant were identified in the second allele in patients 1 and 2, respectively. Segregation analysis of the variants was consistent with the expected autosomal recessive disease inheritance pattern. Both patients had severe renal failure requiring kidney transplantation in early childhood.ConclusionThe finding of compound heterozygous IFT140 mutations in two unrelated CED patients provide further evidence that IFT140 gene mutations are associated with this syndrome. Our studies confirm that IFT140 changes in patients with CED are associated with early onset end-stage renal disease. Moreover, this report expands our knowledge of the clinical- and molecular genetics of Sensenbrenner syndrome and it highlights the importance of multidisciplinary approaches in the care of CED patients.

Digenic variations of human COL4A3 and COL4A4 genes result in early onset renal failure

Type IV collagen protein is formed by the interaction of α3. α4. α5 chains and is encoded by COL4A3, COL4A4 and COL4A5 genes located on the chromosome 2 and the X-chromosome. Pathogenic variations in these genes are reported to be associated with the Alport sydrome (OMIM#104200) and follow the three classic Mendelian inheritance patterns; i) autosomal recessive, ii) autosomal dominant and iii) X-linked inheritance. Recently, with the emergence of massively parallel sequencing, a digenic etiology of Alport syndrome has been postulated, characterized by hematuria, proteinuria, end stage renal disease and chronic kidney failure often accompanied by the sensorineural deafness. Here, we report on the case of an 18 months old girl with clinical features of early onset renal failure in absence of any known cause. Patient was investigated using targeted massively parallel sequencing which revealed two novel variants in COL4A3 and COL4A4 genes. The variants were confirmed with Sanger sequencing as de novo missense variations c.4145G > T (p.Gly1382Val) and c.2956C > T (p.Pro986Ser) in the COL4A3 and COL4A4 genes, respectively. The variants are neither reported in population databases like 1000 Genomes, ExAC, etc. nor in Clinvar and are predicted to be disease causing by mutation prediction software. The HMM-based haplotype phasing revealed that the digenic variations identified are likely to be in cis. Overall, the findings suggest that the potential variants identified may explain the disease phenotype of the patient.

Image Gallery: Palmar vascular lesions, a tool for diagnosis and prognosis in Fabry disease

Funding sources: none. Conflicts of interest: W.M. has received honoraria from Shire‐Takeda, Sanofi Genzyme and Amicus; and congress fees and travel assistance from Amicus, Sanofi Genzyme and Shire‐Takeda. O.L. has received travel support and lecture fees from Amicus Therapeutics, Shire and Sanofi Genzyme. The other authors declare they have no conflicts of interest. Dear Editor, Fabry disease (FD) is an X‐linked lysosomal disorder leading to accumulation of glycosphingolipids.1 Its severity results from FD vasculopathy in the form of early ischaemic stroke, cardiomyopathy and renal failure. Small vessels can also be affected,2 causing skin lesions like telangiectases and angiokeratomas, which usually affect the trunk or limbs in the classical phenotype.1 FD should be considered as a cause of palmar lesions, as suggested with the three cases we present here of male patients with severe, multiorgan FD and palmar lesions. Recognizing skin manifestations is essential in FD, as they usually precede organ involvement, allowing earlier diagnosis and treatment, and are determinant for the prognosis.

Eventos cardiovasculares tempranos y tardíos en pacientes ingresados por neumonía adquirida en la comunidad

IntroductionCommunity-acquired pneumonia increases the risk of cardiovascular events (CVE). The objective of this study was to analyze host, severity, and etiology factors associated with the appearance of early and late events and their impact on mortality. MethodProspective multicenter cohort study in patients hospitalized for pneumonia. CVE and mortality rates were collected at admission, 30-day follow-up (early events), and one-year follow-up (late events). ResultsIn total, 202 of 1,967 (10.42%) patients presented early CVE and 122 (6.64%) late events; 16% of 1-year mortality was attributed to cardiovascular disease. The host risk factors related to cardiovascular complications were: age ≥65 years, smoking, and chronic heart disease. Alcohol abuse was a risk factor for early events, whereas obesity, hypertension, and chronic renal failure were related to late events. Severe sepsis and Pneumonia Severity Index (PSI) ≥3 were independent risk factors for early events, and only PSI ≥3 for late events. Streptococcus pneumoniae was the microorganism associated with most cardiovascular complications. Developing CVE was an independent factor related to early (OR 2.37) and late mortality (OR 4.05). ConclusionsAge, smoking, chronic heart disease, initial severity, and S. pneumoniae infection are risk factors for early and late events, complications that have been related with an increase of the mortality risk during and after the pneumonia episode. Awareness of these factors can help us make active and early diagnoses of CVE in hospitalized CAP patients and design future interventional studies to reduce cardiovascular risk.

Prenatal diagnosis and postnatal outcome of anterior urethral anomalies.

Anterior urethral anomalies (AUA) which present as anterior urethral valve, stenosis or atresia, are a rare cause for congenital urinary tract obstruction. We present our AUA prenatal diagnosis case series. Fetuses presenting with prenatal findings suggestive for AUA according to postnatal reported clinical and imaging signs (urinary tract dilatation, dilated bladder, enlarged edematous fetal penis, dilatation of the fetal urethra and diverticula) were followed prospectively. Six fetuses were diagnosed with AUA. Diagnosis was confirmed upon examination of the neonate or the abortus. All cases presented with variable degrees of urinary tract dilatation. Four fetuses who presented with additional congenital anomalies of the kidneys and urinary tract (CAKUT) developed intra-uterine or early postnatal renal failure, while two isolated AUA cases have a normal renal outcome. AUA is a rare diagnosis. However, high index of suspicion and careful sonographic assessment of the male fetal urethra in cases referred for urinary tract dilatation may enable appropriate parent counseling, optimal prenatal surveillance and timed postnatal urological intervention. As in other lower urinary tract obstructions, future renal function seems to correlate with associated CAKUT, therefore close follow up throughout pregnancy and meticulous sonographic assessment is recommended.

Impact of Lab Abnormalities at the Time of Progression in Patients Receiving CD19-Specific CAR T-Cell Therapy for Relapsed/Refractory Large B-Cell Lymphomas

Impact of Lab Abnormalities at the Time of Progression in Patients Receiving CD19-Specific CAR T-Cell Therapy for Relapsed/Refractory Large B-Cell Lymphomas

A single-center study to evaluate the efficacy of a fetal urine peptide signature predicting postnatal renal outcome in fetuses with posterior urethral valves.

Posterior urethral valves (PUVs) account for 17% of pediatric renal failure. The management of pregnancies involving fetuses with PUV is hampered by the fact that current clinical parameters obtained from fetal ultrasound and/or fetal urine biochemistry are insufficient to predict postnatal renal function. We previously have developed a fetal urine peptide signature (12PUV) that predicted with high precision postnatal renal failure at 2 years of age in fetuses with PUV. Here, we evaluated the accuracy of this signature to predict postnatal renal outcome in fetuses with PUV in an independent single-center study. Thirty-three women carrying fetuses with suspected PUV were included. Twenty-five fetuses received vesicoamniotic shunts during pregnancy. PUV was confirmed postnatally in 23 patients. Of those 23 fetuses, 2 were lost in follow-up. Four and 3 patients died in the pre- and perinatal periods, respectively. Follow-up renal function at 6 months of age was obtained for the remaining 14 patients. The primary outcome was early renal failure, defined by an eGFR < 60 mL/min/1.73 m2 before 6 months of age or pre- or perinatal death. The peptide signature predicted postnatal renal outcome in postnatally confirmed PUV fetuses with an AUC of 0.94 (95%CI 0.74-1.0) and an accuracy of 90% (95%CI 78-100). The signature predicted postnatal renal outcome for the suspected PUV cases with an AUC of 0.89 (95%CI 0.72-0.97) and an accuracy of 84% (95%CI 71-97). This single-center study confirms the predictive power of the previously identified 12PUV fetal urinary peptide signature.

P6313RAAS inhibition improves event-free survival in cardiac transplant recipients: results of the prospective cohort study

Abstract Background Despite known achievements, long-term survival of heart transplant (HT) recipients still needs to be improved. The Renin-Angiotensin-Aldosterone System (RAAS) hyper-activation could be the result of heart denervation and immune suppressive therapy in these patients. Angiotensin-converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB) have been shown to be beneficial in patients with hypertension, heart failure (HF) and diabetic nephropathy. Purpose The study was aimed to assess the effects of ACEI and ARB on the prognosis and cardiac transplant remodelling in HT recipients. Methods Four hundred ninety-six critical HF patients had cardiac transplant surgery between January 2012 and December 2016 in Shumakov National Research Centre of Transplantology, and Artificial Organs (Moscow, Russian Federation) which accounted to 57.9% of all heart transplantations (HTx) performed in the country during that period. All patients &gt;18 years old who survived 30 days after the operation without known contraindications for ACEI or ARB were sequentially included in the study. A non-randomised controlled trial study design was used. Study endpoints included death from any cause and re-transplantation due to the irreversible cardiac transplant failure. Results 385 HT recipients (mean age 46.3±2.3 years, 51 females and 334 males) enrolled in the study. Thirty days after the HTx, a RAAS inhibitor was assigned to 141 recipients. Patients receiving ACEI or ARB had significantly better event-free survival than the control group (log-rank p=0.045) during the follow-up for 1856.5±68.3 days. Unadjusted analysis revealed other factors related to the risk of death or irreversible HT failure: recipient age &lt;37 years old, donor age&gt;44 years old, aortic cross-clamping time &gt;117 min, peri-operational ECMO&gt;3 days of duration, acute renal failure requiring dialysis during first 30 days after the operation, right atrium size, mitral regurgitation 2+, tricuspid regurgitation 1+, donor's heart posterior wall thickness (PWT) &gt;12mm, and left ventricle (LV) end-diastolic dimension (EDD). When adjusted to the RAAS inhibitors use, only the donor's age and early renal failure remained significant. LV EDD did not change over time in both groups, whereas LV PWT in the control group significantly increased from 12.3±0.3 to 13.5±0.5 mm (p&lt;0.05). Conclusions Heart transplant recipients who received RAAS inhibitors had better survival and less LV hypertrophy progression that could reflect the beneficial effects of ACEI and ARB after heart transplantation.

Comparative analysis of the immediate results of the off-pump versus on-pump myocardial revascularization in the elderly patients

Aim: To evaluate efficacy and safety of surgical myocardial revascularization with two internal thoracic arteries in the elderly patients and to identify special aspects and immediate results of the interventions on a working heart and with the use of cardiopulmonary bypass and on a working heart.Materials and methods: This retrospective single center study included patients over 65 years of age with multivessel coronary artery disease who underwent coronary artery bypass grafting with two internal thoracic arteries in a working heart without cardiopulmonary bypass at the Federal Clinical Center of High Medical Technologies of FMBA of Russia from 2015 to 2017 (the study group, n=50) and with cardiopulmonary bypass and cardioplegia (the comparison group, n=51). We analyzed demographic characteristics, preoperative state severity, and special aspects of myocardial damage, operational parameters, rates, and structure of postoperative complications.Results: None of the patients died. Median intraoperative parameters in the study group were better than those in the comparison group: blood loss, 300 vs. 800 mL (p&lt;0.001), duration of the surgery, 190 and 240 min (p&lt;0.001), duration of mechanical ventilation, 3 and 5 hours (p&lt;0.001), respectively. Early postoperative acute renal failure was less frequent in the patients who had undergone surgery without cardiopulmonary bypass (median serum creatinine levels 90 vs. 125 µmol/L (p&lt;0.001)). Postoperative complications were observed in the group of patients operated with cardiopulmonary bypass: three cases of acute cerebrovascular accidents (stroke) and one deep wound infection of the sternum. Mean duration of the hospital stay in the patients operated on a working heart without the use of cardiopulmonary bypass was 7 days versus 9 in the comparison group.Conclusion: Myocardial revascularization without cardiopulmonary bypass is associated with lower rates of postoperative complications, decreased duration of the procedure, decreased blood loss, time on mechanical ventilation and acute renal failure rate, which all results in decreased duration of hospital stay. Bimammary myocardial revascularization without cardiopulmonary bypass could be the method of choice in the elderly patients.

Neutrophil-to-lymphocyte ratio for early renal failure under extracorporeal membrane oxygenation support for postcardiotomy shock.

This study aims to investigate the relationship between the neutrophil-to-lymphocyte ratio and renal injury in patients under extracorporeal membrane oxygenation support for postcardiotomy shock. Between January 2007 and July 2018, a total of 119 patients (38 males, 81 females; mean age 54.4±13.0 years; range, 24 to 74 years) who received extracorporeal membrane oxygenation support for postcardiotomy shock and survived at least 48 hours in our center were retrospectively analyzed. Pre- and postoperative neutrophil-to-lymphocyte ratios, demographic characteristics, renal function parameters, and extracorporeal membrane oxygenationrelated data of the patients were recorded. Occurrence and stages of renal injury was determined using the revised Acute Kidney Injury Network and Kidney Disease Improving Global Outcomes criteria. No significant relationship was found between preoperative neutrophil-to-lymphocyte ratio and renal injury (p>0.05). Postoperative neutrophil-to-lymphocyte ratio was higher in patients who developed renal injury, compared to patients without renal injury (8.68 [0.84-42.00] vs. 4.02 [1.04-21.21], respectively, p=0.004). When patients were grouped for renal injury stage according to the revised Acute Kidney Injury Network (p=0.015) and Kidney Disease Improving Global Outcomes (p=0.006) criteria, the patients with more severe renal injury had higher neutrophil-to-lymphocyte ratio. The receiver operating characteristics analysis revealed a cut-off value of 6.71 for the neutrophil-to-lymphocyte ratio for the detection of renal injury. Patients with a value above 6.71 had an odds ratio of 5.941 for occurrence of renal injury. Postoperative, but not preoperative neutrophil-tolymphocyte ratio is associated with presence and severity of renal injury in patients under extracorporeal membrane oxygenation support for postcardiotomy shock. Neutrophil-to-lymphocyte ratio is a simple and inexpensive marker of inflammation in this patient population.

YOUTH HYPERTENSION ASSOCIATED WITH ADA2 DEFICIENCY. ABOUT THREE CASES

Objective: Youth hypertension is often secondary. The deficiency of Adenosine Deaminase 2 (DADA2) is a new autoinflammatory disease. the DADA2 was first described associated with clinical manifestations of a nodosa polyarthéritis and early- Onset stroke. Clinically, DADA2 has three main phenotypes, the inflammatory vascular phenotype, hematological form and Immunological form. We report the case of three members of the same family with hypertension since their early ages. Design and method: This is a retrospective study of case series of patients associating a hypertension of the young and an ADA2 deficiency. The patients are from the same family, Resulting from a 2nd degree consanguineous marriage. Results: The patient H.F born in 1998. HF had recurrent fever, arthralgia since the age of 2 years, hypertension since the age of 6 years, he is stable on treatment with losartan 50 mg and nicardipine 100 mg / day. In March 2016 the patient had headache, dizziness and abdominal pain, MRI exploration found an appearance of cerebral vasculitis with the presence of numerous demyelinating lesions. In 2018, The search for the gene mutation of ADA2 was positive with the presence of the mutation c. [139G> A]; [139G> A] p [Gly47Arg]; [Gly47Arg]. the same mutation was found in his 10-year-old brother H.A. during the family survey we found that our patient has a brother H.Y. H.Y had a similar symptomology but less severe from a young age. he currently has a urticariaine reaction to cold and hypertension. our patient had a brother H.F born in 1984. H.F had a stroke at which a hypertension was diagnosed. This patient had presented kidney failure dialysis at the age of 16 years died at the age of 17 years. the diagnosis of DADA2 in the two brothers is retained in front of the similar clinical symptomatology and the family context. Conclusions: In our series, HTA is associated with DADA2 in three patients. DADA2-associated HTA is particularly common in children and may be associated with complications such as early stroke, cerebral vasculitis and renal failure

Insights from High-Performing Heart Transplant Centers across the Recipient Risk-Spectrum

Purpose Heart transplant (HT) centers with superior short-term (90 day) survival of recipients maintain performance advantage over other centers for long-term survival. However, signature characteristics of high-performing centers have not been adequately analyzed. We stratified US centers by 90-day performance and compared them for mortality across recipient risk-spectrum, ability to rescue from early renal failure and cause-specific mortality during the first 90 post-HT days. Methods We analyzed 25467 HT recipients >18 yrs. old at 96 US centers during 2000-2014 (UNOS data). We developed and validated a risk-model for 90-day mortality using baseline characteristics of all recipients and yr. of HT. We used the model to estimate the risk of 90-day mortality for each recipient, expected 90-day mortality for each center and 90-day standardized mortality ratio (SMR, observed divided by expected mortality, lower SMR in high-performing centers) for each center, stratifying centers into SMR quintiles. Results SMR was 0.23 to 0.69, 0.70 to 0.91, 0.92 to 1.13, 1.14 to 1.42 and 1.43 to 2.66, respectively among SMR 1-5 centers. The difference between observed vs. expected mortality at low vs. high SMR centers increased progressively in higher risk recipients (Figure). Post-HT dialysis was required in 7.8, 8.1, 8.3, 9.0 and 13.4 % recipients, respectively among SMR 1-5 centers (P for trend Conclusion High performing HT centers have superior outcomes in higher risk recipients, lower incidence of early post-HT renal failure, higher renal rescue rate and lower cause-specific mortality from all causes. These findings suggest superior systems of care and/or expertise in managing higher risk recipients at such centers

Prognostic Value of Neutrophil Lymphocyte Ratio for Early Renal Failure in ECMO Patients

Purpose We aimed to investigate the relationship between the early renal failure during Ecmo and Neutrophil Lymphocyte Ratio, which may be an indicator of a systemic inflammatory response. Methods We retrospectively evaluated the patients with Ecmo due to postcardiotomic shock after elective CABG surgery in our institution between 2012-2018. AKIN and KDIGO criteria were used to group patients into respective AKI Stages. Early renal failure was defined as renal failure within 72 hours of ECMO initiation. Results Of the 119 patients, 68.1% were female. The mean age of the patients was 54.62 ± 12.94, and the mean duration of ECMO was 6.69 ± 5.75 days, and 73.1% were canullated centrally. There was a statistically significant difference between postoperative NLR levels according to the presence of AKIN / KDIGO (p = 0.004; p Conclusion NLR increase was significant in the first three days of Ecmo in patients who developed renal failure. This increase can be due to an inflammatory response that plays a role in the pathogenesis of renal injury during Ecmo run and NLR can be an accessible and useful indicator for early diagnosis of the renal failure and inflammatory response.

Recent advances in the clinical management of autosomal dominant polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder causing the development of renal and hepatic cysts and decline in renal function. It affects around 1 in 1,000 live births. Early hypertension and progressive renal failure due to massive enlargement of cysts and fibrosis are hallmarks of the disease. This article reviews recent advances in ADPKD and focuses mainly on diagnosis, management, and prediction of the course of the disease.

Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis

Kidney injury due to focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular disorder causing end-stage renal disease. Homozygous mutations in either glomerular basement membrane or slit diaphragm genes cause early renal failure. Heterozygous carriers develop renal symptoms late, if at all. In contrast to mutations in slit diaphragm genes, hetero- or hemizygous mutations in the X-chromosomal COL4A5 Alport gene have not yet been recognized as a major cause of kidney injury by FSGS. We identified cases of FSGS that were unexpectedly diagnosed: In addition to mutations in the X-chromosomal COL4A5 type IV collagen gene, nephrin and podocin polymorphisms aggravated kidney damage, leading to FSGS with ruptures of the basement membrane in a toddler and early renal failure in heterozygous girls. The results of our case series study suggest a synergistic role for genes encoding basement membrane and slit diaphragm proteins as a cause of kidney injury due to FSGS. Our results demonstrate that the molecular genetics of different players in the glomerular filtration barrier can be used to evaluate causes of kidney injury. Given the high frequency of X-chromosomal carriers of Alport genes, the analysis of genes involved in the organization of podocyte architecture, the glomerular basement membrane, and the slit diaphragm will further improve our understanding of the pathogenesis of FSGS and guide prognosis of and therapy for hereditary glomerular kidney diseases.

Role of Hipoxia inducible factor-1 alpha in early stage renal failure and its relationship with biochemical and inflammatory parameters

Role of Hipoxia inducible factor-1 alpha in early stage renal failure and its relationship with biochemical and inflammatory parameters