Evaluation Of Clinical And Follow-up Results Of Patients With Congenital Nephrotic Syndrome

Introduction:  Congenital nephrotic syndrome (CNS) is characterized by severe proteinuria, hypoalbuminemia, and edema within the first three months of life. CNS can occur due to perinatal infections or mutation of genes encoding structural or regulatory proteins of the glomerular filtration barrier. Treatment includes albumin infusions, nephrectomy, dialysis, and transplantation. Objective: In this study, we aimed to evaluate the demographic, clinical, and follow-up results of patients with CNS followed up in our center between 2010 and 2020. Patients and method:  Demographic, clinical, laboratory values of 8 patients diagnosed with CNS between 2010 and 2020, kidney biopsy results, genetic examinations, and follow-up results were retrospectively evaluated. Results: A total of 8 patients (4 girls) were included in this study. The median age at diagnosis was 36 days (3 days-8 months) and the follow-up period was 34 months (7-114 months). There was a history of prematurity and consanguinity in 5 patients. Edema was detected at the admission of all patients. Albumin infusion and captopril therapy were started from the diagnosis. No pathology was seen in the tests for perinatal infection, and Ultrasonographic examinations were normal. In the genetic analysis, NPHS1 (Nephrin) homozygous mutation was detected in six patients, and coenzyme Q2 mutation was detected in one patient. Peritoneal dialysis treatment was performed in four patients during the follow-up, and unilateral nephrectomy was completed in one patient. During the follow-up, four of eight patients (three due to sepsis while on dialysis, one on the postoperative after the first day of transplantation) died. Three patients are followed up with kidney transplantation and one with supportive treatment. Conclusion: According to our results, most CNS cases are genetic, and nephrin mutation is the most common cause. Management of complications in CNS is crucial for patient survival

Acoustic Radiation Force Impulse Quantification in the Evaluation of Renal Parenchyma Elasticity in Pediatric Patients With Chronic Kidney Disease

WOS: 000406344700003PubMed: 28390141Objectives-To evaluate renal parenchymal elasticity with acoustic radiation force impulse imaging in pediatric patients with chronic kidney disease (CKD) and compare with healthy volunteers. Methods-Thirty-eight healthy volunteers and 30 pediatric CKD patients were enrolled in this prospective study. The shear wave velocity (SW) values of both kidneys in CKD patients and healthy volunteers were evaluated. Results-The mean SW in healthy volunteers was 2.2160.34 m/s, whereas the same value was 1.81 +/- 0.49, 1.72 +/- 0.63, 1.66 +/- 0.29, 1.48 +/- 0.37, and 1.23 +/- 0.27 for stages 1, 2, 3, 4, and 5 in CKD patients, respectively. The SW was significantly lower for each stage in the CKD patients compared with healthy volunteers. Acoustic radiation force impulse could not predict the different stages of CKD, with the exception of stage 5. The cut-off value for predicting CKD was 1.81 m/s; at this threshold, sensitivity was 76.5% and specificity was 92.1% (area under the curve = 0.870 [95% confidence interval: 0.750-0.990]; P < .001). Interobserver agreement expressed as intraclass coefficient correlation was 0.65 (95% confidence interval: 0.34 to 0.83; P < .001). Conclusions-Acoustic radiation force impulse may be a potentially useful tool in detecting CKD in pediatric patients

The role of bioelectrical impedance analysis, NT-ProBNP and inferior vena cava sonography in the assessment of body fluid volume in children with nephrotic syndrome

Background: Assessment of volume status and differentiating “underfill” and “overfill” edema is essential in the management of patients with nephrotic syndrome (NS). Objectives: Our aim was to evaluate the volume status of NS patients by using different methods and to investigate the utility of bioelectrical impedance analysis (BIA) in children with NS. Methods: The hydration status of 19 patients with NS (before treatment of NS and at remission) and 25 healthy controls was assessed by multifrequency BIA, serum N-terminal-pro-brain natriuretic peptide (NT-proBNP) levels, inferior vena cava (IVC) diameter, left atrium diameter (LAD) and vasoactive hormones. Results: Renin, aldosterone levels, IVC diameter and LAD were not statistically different between the groups. NT-proBNP values were statistically higher in the attack period compared to remission and the control group (p = 0.005 for each). Total body water (TBW), overhydration (OH) and extracellular water (ECW) estimated by the BIA measurement in the attack group was significantly higher than that of the remission group and controls. There were no significant correlations among volume indicators in group I and group II. However, significant correlations were observed between NT-proBNP and TBW/BSA (p = 0.008), ECW/BSA (p = 0.003) and ECW/ICW (p = 0.023) in the healthy group. TBW was found to be higher in patients with NS in association with increased ECW but without any change in ICW. NT-proBNP values were higher in patients during acute attack than during remission. Conclusions: Our findings support the lack of hypovolaemia in NS during acute attack. In addition, BIA is an easy-to-perform method for use in routine clinical practice to determine hydration status in patients with NS

AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY DISEASE IN CHILDREN: PRELIMINARY RESULTS OF A TURKISH NATIONAL, MULTICENTER STUDY

WOS: 000443998400522

MEMBRANOUS NEPHROPATHY IN CHILDREN: A RETROSPECTIVE OBSERVATIONAL MULTICENTRE STUDY IN TURKEY

WOS: 000443998400411

Nutcracker Syndrome in Children: Role of Doppler Ultrasonographic Indices in Detecting the Pattern of Symptoms

The purpose of this study was to evaluate the clinical characteristics of 44 pediatric patients who were diagnosed as having nutcracker syndrome (NCS). We also investigated the left renal vein Doppler ultrasonography (DUS) results, to determine whether or not there was an association between clinical symptoms and DUS findings among these patients. The clinical data from 44 pediatric patients who were diagnosed as having NCS from January 2008 to December 2015 were retrospectively reviewed. We grouped the patients according to the presenting symptoms as symptomatic (loin pain; macroscopic hematuria or both) and non-symptomatic (microscopic hematuria and proteinuria were detected incidentally) and evaluated the left renal vein DUS indices in these two groups separately. Asymptomatic NCS was found in 27 (61.4%) patients; 21 (47.7%) of whom were admitted for the evaluation of proteinuria. The most frequent presenting symptoms were left flank pain (20.5%) and macroscopic hematuria (13.6%); and 2 (4.5%) patients presented with a combination of left flank pain and macroscopic hematuria. The mean ratio of the diameter of the hilar portion of the left renal vein (LRV) to that of the aortomesenteric portion was 4.36 ± 1.55. The mean ratio of the peak velocity (PV) between the two sites of the LRV was 7.32 ± 2.68 (3.1–15.6). The differences in the ratio of the diameters were statistically significant between the two groups and significantly higher in children with asymptomatic NCS (p = 0.025). The PV ratios of the LRV (p = 0.035) were significantly higher in asymptomatic children with NCS than in the symptomatic group. Our study identifies that increased compression ratio of the LRV entrapment is most observed in orthostatic proteinuria and microscopic hematuria

A broad clinical spectrum of PLC epsilon 1-related kidney disease and intrafamilial variability

Background The phenotypic and genotypic spectrum and kidney outcome of PLC epsilon 1 -related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLC epsilon 1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome