Aim: Urodynamic examination is considered the most reliable, but
also a quite invasive tool for the diagnosis of voiding dysfunctions in
children. In this study, we evaluated the role of invasive ...urodynamics in
the diagnosis of lower urinary tract dysfunction in children.
Methods: One thousand one hundred twenty seven patients
underwent urodynamic studies in the pediatric nephrology clinic
in Ege University Faculty of Medicine between March 2011 and
March 2016. A retrospective analysis of data including symptoms of
voiding dysfunction (urinary frequency, urgency, nocturia and/or urge
incontinence) and findings of physical examination, urodynamics and
ultrasonography was performed.
Results: Two hundred and seventy-seven (30.8%) boys and 620
(69.1%) girls with a mean age of 7.52 (±2.6) years underwent
urodynamic studies. The most common abnormality was overactive
bladder detected in 630 patients (70.2%). 19.9% (n=179) of the
participants had dysfunctional voiding, while 9.8% (n=88) had normal
results.
Conclusion: A small and frequent voiding pattern, enuresis nocturna
with daytime symptoms, and postvoid urinary residual volume were
the common findings seen in patients with overactive bladder. In
addition, dyssynergic voiding and a bladder with large capacity but
residual volume after voiding were also commonly found. To that end,
we may use ultrasound, clinical examination, symptoms and voiding
frequency as first-line diagnostic tools.
The use of mycophenolatemofetil (MMF) in the treatment of steroid-dependent nephrotic syndrome (SDNS) is beneficial in decreasing the relapse rate and/or steroid dose. The effectiveness and long-term ...results of MMF/dexamethasone (DEX) in the treatment of SDNS are not well known. In this study, we aimed to determine the efficiency, safety, and long-term results of MMF/DEX in patients with SDNS in comparison with cyclosporine A (CsA) in a retrospective single-center trial. Between January 2009 and December 2015, 54 SDNS patients were treated with either MMF/DEX (n = 29) or CsA (n = 25). Relapse rates, relapse-free time, cumulative exposure to corticosteroids, proteinuria, and estimated glomerular filtration rate (eGFR) were retrospectively evaluated at 0, 3, 6, 12, 24, and 36 months after the initiation of treatment. The mean cumulative exposure to corticosteroids for the MMF/DEX and CsA groups was 72.40 ± 71.85 mg/kg/year and 122.31 ± 74.35 mg/kg/year, respectively. There was a significant decrease in the cumulative exposure to corticosteroids in the MMF/DEX group (Z = 3.869; P <0.001). While the mean annual relapse for the MMF/DEX group was 1.07 ± 0.25, it was 1.70 ± 1.01 in the CsA group, and this difference was statistically significant (Z = 1.968; P = 0.049). Relapse-free time for the 1st, 2nd, and 3rd years compared between the MMF/DEX and CsA groups was 9.57 ± 2.58 versus 6.38 ± 2.43, 10.27 ± 1.98 versus 8.28 ± 2.28, and 9.67 ± 2.06 versus 6.52 ± 3.04, respectively. The difference was significantly higher in favor of MMF/DEX (between-subject effects F = 48.352; P<0.001). Both eGFR and proteinuria significantly changed over time. However, there was no significant difference between the groups until the later time points of the follow-up. The difference became evident only at the 2nd-and 3rd-year measurements. MMF/DEX seems superior to CsA in preventing relapses and reducing cumulative exposure to cortico-steroids. Thus, it may be considered a treatment option in children with SDNS.
Sözeri B, Gerçeker-Türk B, Yıldız-Atıkan B, Mir S, Berdeli A. A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment. Turk J Pediatr ...2018; 60: 588-592. Autoinflammatory diseases can cause severe inflammation in bone and skin such as neonatal-onset multisystem inflammatory disease (NOMID), Majeed syndrome, interleukin-36 receptor antagonist deficiency (DITRA) and deficiency of interleukin-1 (IL-1) receptor antagonist (DIRA) syndrome. Here we report a five-year old boy who was admitted to the hospital with pustular skin lesions and fever in the first month of his life. Molecular analysis of IL1RN gene revealed a single homozygous C nucleotide deletion at nucleotide position 396 (p.Thr133Profs*118). The novel p.Thr133Profs*118 mutation found in our study caused frameshift mutation and as a result, the respective protein is most likely non-functional. The patient, who received a variety of treatments for various preliminary diagnoses until the final diagnosis (DIRA), was treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement.
Background
Glomerular filtration rate (GFR) is the best marker used to assess renal function. Estimated GFR (eGFR) equations have been developed, and the ideal formula is still under discussion. We ...wanted to find the most practical and reliable GFR in eGFR formulas. We compared serum creatinine (Scr)‐ and cystatin C (cysC)‐based eGFR formulas in the literature. We also aimed to determine the suitability and the reliability of cysC for practical use in determining GFR in children.
Methods
We have enrolled 238 children in the study. Measurement of 24‐hour creatinine clearance was compared with eGFR equations which are based on Scr, cysC, and creatinine plus cysC.
Results
Of the patients (n = 238), 117 were males (49.2%), and 121 (50.8%) were females with a median age of 9.0 years. The areas under the ROC curves of Counahan‐Barratt and Bedside Schwartz were equal and 0.89 (with a 95% CI 0.80‐0.97). The areas under the ROC curves were not significantly different in all cystatin C‐based eGFR equations. The highest AUC values for differentiating normal vs abnormal renal functions according to CrCl24 were for the CKiD‐cysC and CKiD‐Scr‐cysC equations.
Conclusions
In our study, compared with creatinine‐based ones, the cystatin C‐based formulas did not show much superiority in predicting eGFR. Still, we think Bedside Schwartz is a good formula to provide ease of use because, in this equation, the constant k is same for all age groups. However, the most valuable equations in determining chronic kidney disease are the CKiD‐cysC and CKiD‐Scr‐cysC equations.
In this study, we aimed to detect the cytokine that is involved in the early stage of chronic kidney disease and associated with cardiovascular disease.
We included 50 patients who were diagnosed ...with predialytic chronic kidney disease and 30 healthy pediatric patients in Ege University Medical Faculty Pediatric Clinic, İzmir/Turkey. Interleukin-8 (IL-8), interleukin-10 (IL-10), interleukin-13 (IL-13), and transforming grow factor-β1 (TGF-β1) levels (pg/mL) were measured by ELISA. Carotid-femoral pulse wave velocity (PWV), augmentation index (Aix), carotid intima media thickness (cIMT), and left ventricular mass index (LVMI) were evaluated as markers of cardiovascular disease. The presence of a cardiovascular disease marker was defined as an abnormality in any of the parameters (cIMT, PWV, Aix, and left ventricular mass index (SVKI)). The patient group was divided into two groups as with and without cardiovascular disease.
Mean Aix and PWV values were higher in CKD patients than controls (Aix: CKD 32.8±11.11%, healthy subjects: 6.74±6.58%, PWV CKD: 7.31±4.34m/s, healthy subjects: 3.42±3.01m/s, respectively; p=0.02, p=0.03). The serum IL-8 levels of CKD were significantly higher than of healthy subjects 568.48±487.35pg/mL, 33.67±47.47pg/mL, respectively (p<0.001). There was no statistically significant difference between IL-8, IL-10, IL-13, TGF-1, in CKD patients with and without cardiovascular disease (p> 0.05).
IL-8 is the sole cytokine that increases in pediatric patients with chronic kidney disease among other cytokines (IL-10, IL-13 and TGF-β1). However, we did not show that IL-8 is related to the presence of cardiovascular disease.
The extent and relevance of altered bone metabolism for statural growth in children with chronic kidney disease is controversial. We analyzed the impact of renal dysfunction and recombinant growth ...hormone therapy on a panel of serum markers of bone metabolism in a large pediatric chronic kidney disease cohort.
Bone alkaline phosphatase (BAP), tartrate-resistant acid phosphatase 5b (TRAP5b), sclerostin and C-terminal FGF-23 (cFGF23) normalized for age and sex were analyzed in 556 children aged 6-18 years with an estimated glomerular filtration rate (eGFR) of 10-60 ml/min/1.73 m2. 41 children receiving recombinant growth hormone therapy were compared to an untreated matched control group.
Standardized levels of BAP, TRAP5b and cFGF-23 were increased whereas sclerostin was reduced. BAP was correlated positively and cFGF-23 inversely with eGFR. Intact serum parathormone was an independent positive predictor of BAP and TRAP5b and negatively associated with sclerostin. BAP and TRAP5B were negatively affected by increased C-reactive protein levels. In children receiving recombinant growth hormone, BAP was higher and TRAP5b lower than in untreated controls. Sclerostin levels were in the normal range and higher than in untreated controls. Serum sclerostin and cFGF-23 independently predicted height standard deviation score, and BAP and TRAP5b the prospective change in height standard deviation score.
Markers of bone metabolism indicate a high-bone turnover state in children with chronic kidney disease. Growth hormone induces an osteoanabolic pattern and normalizes osteocyte activity. The osteocyte markers cFGF23 and sclerostin are associated with standardized height, and the markers of bone turnover predict height velocity.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Insulin Resistance is common in patients with mild-to-moderate stage chronic kidney disease (CKD), even when the glomerular filtration rate is within the normal range. This study aimed to investigate ...the association of IR and 25-hydroxyvitamin D levels. In this study, we evaluated the frequency of IR in predialysis patients and the association with 25-hydroxyvitamin (OH)D levels. A total of 32 non-diabetic patients with predialysis were included in the study. Homeostasis model assessment for insulin resistance (HOMA-IR) index was calculated to show presence of IR. Data were analyzed with the Statistical Package for the Social Sciences (SPSS) program version 13.0 (SPSS Inc, Chicago, Ill, USA) using the Chi-square, Student t-test, and logistic regression analysis. Nineteen of 32 subjects (59.4%) were detected to have IR. There was no consistent relationship was detected between IR and glomerular filtration rate, body mass index, and blood pressure in chronic kidney disease (CKD). However; significant difference was detected in 25(OH)D levels with IR in CKD (P = 0.49). The regression analysis showed that 25(OH)D was an independent predictor of IR with an odds ratio of 1.2. In our study, we demonstrated that IR was high in different stages of CKD. Insulin-resistance in non-diabetic CKD was correlated with 25(OH)D levels. 25(OH) vitamin D levels can play a significant role in the development of IR in pediatric patients with CKD. This is important for the early detection and intervention of vitamin D deficiency thereby preventing potentially future complications related to IR.
Failure of statural growth is one of the major long-term sequelae of chronic kidney disease (CKD) in children. In recent years effective therapeutic strategies have become available that lead to ...evidence based practice recommendations. To assess the current growth performance of European children and adolescents with CKD, we analyzed a cohort of 594 patients from 12 European countries who were followed prospectively for up to 6 years in the 4C Study. While all patients were on conservative treatment with a mean estimated glomerular filtration rate of 28 ml/min/1.73 m
at study entry, 130 children commenced dialysis during the observation period. At time of enrolment the mean height standard deviation score (SDS) was -1.57; 36% of patients had a height below the third percentile. The prevalence of growth failure varied between countries from 7 to 44% Whereas patients on conservative treatment showed stable growth, height SDS gradually declined on those on dialysis. Parental height, pubertal status and treatment with recombinant growth hormone (GH) were positively, and the diagnosis of syndromic disease and CKD stage were negatively associated with height SDS during the observation period. Unexpectedly, higher body mass index (BMI) SDS was associated with lower height SDS both at enrolment and during follow up. Renal anemia, metabolic acidosis, and hyperparathyroidism were mostly mild and not predictive of growth rates by multivariable analysis. GH therapy was applied in only 15% of growth retarded patients with large variation between countries. When adjusting for all significant covariates listed above, the country of residence remained a highly significant predictor of overall growth performance. In conclusion, growth failure remains common in European children with CKD, despite improved general management of CKD complications. The widespread underutilization of GH, an approved efficacious therapy for CKD-associated growth failure, deserves further exploration.
Rapidly progressive glomerulonephritis (RPGN) is rare syndrome in children, characterized by clinical features of glomerulonephritis and rapid loss of renal function, and is associated with ...crescentic glomerulonephritis. Primary membranous nephropathy (MN) is an immune-complex-mediated cause of the adult nephrotic syndrome but occurs less frequently in children. RPGN is rarely observed in adults with primary MN. In this article, we report a case of MN, which developed during long-term follow-up of previously treated RPGN. Our case may be the first to demonstrate primary MN and crescentic glomerulonephritis in a child. We would like to underline the importance of not dropping the long-term follow-up of cases with primary RPGN (not accompanied by other glomerulonephritis and vasculitis symptoms) who had improved with treatment.
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