Characteristics and predictors of chronic kidney disease in children with myelomeningocele: a nationwide cohort study.

BACKGROUND: Myelomeningocele (MMC) is highly prevalent in developing countries, and MMC-related neurogenic bladder is an important cause of childhood chronic kidney disease (CKD). This nationwide study aimed to evaluate demographic and clinical features of pediatric patients with MMC in Turkey and risk factors associated with CKD stage 5. METHODS: Data from children aged 0-19 years old, living with MMC in 2022, were retrospectively collected from 27 pediatric nephrology centers. Patients > 1 year of age without pre-existing kidney abnormalities were divided into five groups according to eGFR; CKD stages 1-5. Patients on dialysis, kidney transplant recipients, and those with eGFR < 15 ml/min/1.73 m2 but not on kidney replacement therapy at time of study constituted the CKD stage 5 group. RESULTS: A total of 911 (57.8% female) patients were enrolled, most of whom were expectantly managed. Stages 1-4 CKD were found in 34.3%, 4.2%, 4.1%, and 2.4%, respectively. CKD stage 5 was observed in 5.3% of patients at median 13 years old (range 2-18 years). Current age, age at first abnormal DMSA scan, moderate-to-severe trabeculated bladder on US and/or VCUG, and VUR history were independent risk factors for development of CKD stage 5 (OR 0.752; 95%; CI 0.658-0.859; p < 0.001; OR 1.187; 95% CI 1.031-1.367; p = 0.017; OR 10.031; 95% CI 2.210-45.544; p = 0.003; OR 2.722; 95% CI 1.215-6.102; p = 0.015, respectively). Only eight CKD stage 5 patients underwent surgery related to a hostile bladder between 1 and 15 years old. CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.

Comparison of ESHG2016 and AAP2017 hypertension guidelines in adolescents between the ages of 13 and 16: effect of body mass index on guidelines.

OBJECTIVE: The diagnosis of hypertension in adolescents aged ≥13 and <16 years is based on the percentile according to age, gender, and height in the European Society of Hypertension guidelines guideline; whereas, the American Academy of Pediatrics guideline uses blood pressure above 130/80 mmHg as a single criterion. Therefore, this study aimed to evaluate the compatibility of these two guidelines in adolescents aged ≥13 and <16 years. METHODS: This study was designed by retrospectively screening the records of 395 adolescents with both office and 24-hour ambulatory blood pressure measurements. Each blood pressure measurement was classified according to both the ESGH2016 and AAP2017 guidelines. Patients were divided into three subgroups according to body mass index. Cohen's kappa analysis was used to evaluate the agreement between the two guidelines. RESULTS: The majority of adolescents were normotensive according to both guidelines, 55.9% by ESHG2016 and 43.1% by AAP2017. For the whole group, the frequency of hypertension was 32.4% with ESHG2016 and 34.4% with AAP2017; while, in obese patients, hypertension frequencies were 38.8% and 43.3%, respectively. The diagnosis of hypertension was demonstrated with the two guidelines, and there was significant agreement at a substantial level, both for the obese subgroup and the whole study group (kappa value = 0.738 and 0.785, respectively). The frequency of white-coat hypertension was higher with the AAP2017 guideline (28.1% versus 16.2%, p < 0.001). CONCLUSION: With our experience in this single-centre study, it seems that both the AAP2017 and the ESHG2016 guidelines can be used in the diagnosis of hypertension in adolescents.

Assesment of colistin related side effects in premature neonates.

BACKGROUND: Colistin is an antibiotic in the polymyxin group and is especially important in the elimination of multi-drug resistant gram negative bacteria. To date, there are many studies investigating colistin related side effects, especially nephrotoxicity. However, there are few studies involving premature neonates, and this study aimed to investigate the side effects of colistin in this particular patient group. METHODS: Between January 2016 and May 2019, the medical records of premature neonates treated with colistin were retrospectively reviewed. The diagnosis of acute kidney injury (AKI) was performed according to the modified neonatal KDIGO criteria. Serum electrolyte levels were recorded at the initiation of colistin treatment and 4-7 days after. RESULTS: A total of 47 premature neonates; with a median gestational age of 27 weeks and median weight of 970 g at birth were included in the study. The median postnatal day of colistin initiation was 24 days and mean duration of colistin therapy was 15.95 ± 3.70 days. Colistin was combined with aminoglycosides in 44.6% of the patients. Acute kidney injury was documented in 17.0% of premature neonates. (n = 6 for stage 1, n = 2 for stage 2, none of the patients had stage 3). In univariate analysis, gestational age and concomitant aminoglycoside use were associated with AKI development (OR, 0.446; 95% CI 0.238-0.832; p = 0.011 and OR, 1.324; 95% CI 1.023- 7.584; p = 0.024). Mean magnesium level significantly decreased after colistin treatment (1.70 ± 0.84 vs. 1.57 ± 0.29, p = 0.017) and the frequency of hypomagnesemia increased after colistin use (78.7% vs. 91.5%, p = 0.031). Frequency of elevated AST increased from 23.4% to 44.7% following colistin use (p = 0.031). CONCLUSIONS: Colistin-related side effects observed in premature neonates are not as common as in pediatric patients. Electrolyte imbalance is observed more frequently in this age group following colistin use. We suggest strict serum electrolyte level monitoring, especially magnesium, in premature neonates that are receiving colistin.

Kidney involvement and associated risk factors in children with Duchenne muscular dystrophy.

BACKGROUND: Kidney dysfunction is a common complication in adults with Duchenne muscular dystrophy (DMD); however, little attention has been paid to kidney function in pediatric patients. METHODS: Medical records of patients with DMD who were followed up for ≥ 12 months were retrospectively reviewed. Inclusion criteria were (i) aged 5-18 years, (ii) proven mutations in the dystrophin gene, and (iii) absence of structural anomalies of the kidney and urinary tract. Serum creatine kinase (CK) was used as an indirect marker of muscle destruction. RESULTS: Forty-four patients (mean age, 10.9 ± 3.3 years) were included. Blood pressure was evaluated by 24-h ambulatory blood pressure monitoring in 28 patients. Hypertension was found in 9 (32.1%), eight of whom were using steroids. Mild proteinuria, hypercalciuria, hypocalciuria, and hyperphosphaturia in 24-h urine collection (n = 36) were detected in 3 (8.3%), 5 (13.9%), 7 (19.7%), and 6 (16.7%) patients, respectively. Twenty-one (58.3%) demonstrated hyperuricosuria, associated with hyperuricemia in 4. Logarithmic cystatin C (CysC) had a positive correlation to creatinine (Cr) (p = 0.001, r = 0.54), CK (p = 0.048, r = 0.30), and parathormone (PTH) (p = 0.001, r = 0.49). Moreover, the patients were divided into two groups according to median CysC value: group 1 (n = 20, CysC ≤ 0.76 mg/l) and group 2 (n = 24, CysC > 0.76 mg/l). Mean CK, PTH, and Cr levels were significantly elevated in group 2 compared with group 1 (p = 0.010, 0.033, and 0.023, respectively). CONCLUSIONS: Long-term exposure to the excessive burden of intracellular components released from damaged muscles may be associated with an increased risk over time of chronic kidney impairment in pediatric DMD patients. Graphical abstract.

Does smoking exposure affect response to treatment in children with primary monosymptomatic nocturnal enuresis?

BACKGROUND: There are many variables affecting the success of treatment in children with primary monosymptomatic nocturnal enuresis (PMNE). This study investigates the possible effect of cigarette smoke exposure on desmopressin treatment response in children with PMNE. METHOD: The medical records of pediatric patients with PMNE between February 2018 and December 2018 were retrospectively reviewed. Those who had moderate (3-5 wet nights/week) and severe (>5 wet nights/week) PMNE were included in the study. All patients received 120 mcg of sublingual desmopressin. After 3 months of therapy, treatment response was classified as complete response (100% dry night), partial response (between 50% and 99%) and non-responsiveness (<49% improvement). Partial response or non-responsiveness is considered as treatment failure. The relationship between treatment response to desmopressin and exposure to cigarette smoke was evaluated. Moreover, the other risk factors for treatment failure were investigated. RESULTS: A total of 81 children with the diagnosis of PMNE, with a mean age of 9.98 ± 2.62 years, were included in the study. The frequency of passive smoke exposure at home was 53.1%. Sixty-two patients (76.5%) had severe PMNE, and the response to desmopressin decreased with severity of symptoms. Non-responsiveness to treatment, partial response, and complete response were observed in 11 (13.6%), 23 (28.4%), and 47 (58.0%) of patients, respectively. Treatment failure (n = 34, 42%) was 55.8% in children exposed to smoke and 26.4% in those who were not (p = 0.001). Although univariate analysis revealed that the severity of symptoms and smoke exposure were associated with treatment failure, in multivariate analysis, the presence of smoke exposure was the only independent risk factor (OR = 3.214, 95% CI: 0.125-0.888; p = 0.024) (Summary Table 1). CONCLUSION: Exposure to cigarette smoke is a changeable and important risk factor that reduces the success of desmopressin treatment in children with PMNE.

Delayed diagnosis of primary vesicoureteral reflux in children with recurrent urinary tract infections: Diagnostic approach and renal outcomes.

OBJECTIVE: In this study, we aimed to assess renal outcomes of delayed diagnosis of dilating primary vesicoureteral reflux (VUR) following recurrent febrile urinary tract infections (fUTIs) and its diagnostic imaging procedures. MATERIAL AND METHODS: The medical records of patients who underwent ultrasonography (US), non- acute dimercaptosuccinic acid (Tc-99mDMSA) scintigraphy and voiding cystourethrography (VCUG), and who were older than 2 years at the time of VUR diagnosis were retrospectively reviewed. RESULTS: A total of 32 children (female, n=27: 84.4%) with a mean age of 7.67±3.34 years at the time of diagnosis of VUR were included in the study. Grade III, IV, V VUR were found in 22%, 69%, and 9% of the patients, respectively. At the time of VUR diagnosis, abnormal US findings were detected in 75% of the cases. Tc-99mDMSA detected abnormalities in 83.9% (7 with a single scar, 7 with multiple lesions, 12 with reduced kidney function) of the patients. Estimated glomerular filtration rate of 3 patients with bilateral grade IV VUR was <75 mL/min/1.73 m2. In 5 patients (16%), VUR could not be predicted by US+DMSA scintigraphy (Grade IV VUR in 3 and Grade III in 2 cases ). The sensitivity in predicting VUR was 75.00% (95% CI: 56.60-88.54) and 83.87% (95% CI: 66.27-94.55), respectively, for US alone and combined US+DMSA. CONCLUSION: VCUG should be performed routinely in addition to US and non-acute DMSA in all children referred with recurrent fUTIs. Awareness of childhood UTI in public and healthcare personnels should be increased in order to refer these patients at a early stage to pediatric urology and nephrology units.

Associated anomalies and clinical outcome in children with ectopic kidney.

Urological anomalies can be seen in children with renal ectopia (RE) and can result in renal impairment. Therefore, we evaluated associated anomalies and renal outcome in our patients with RE. Sixty-eight children who were diagnosed with RE between January 2009-May 2014 were retrospectively studied. A total of 68 patients, 36 (52.9%) boys, with a median age of 67 months (4-201) and a median follow-up period of 14 months (3-113) were included in the study. Simple RE (S-RE) was found in 51 (75%) patients, of which 46 were unilateral and five were bilateral (discoid kidney). Crossed RE (C-RE) was detected in 17 (25%) patients. Voiding cystourethrogram was performed in 21/51 (41.2%) patients in S-RE group and 5/17 (29.4%) in C-RE group. We did not find vesicoureteral reflux (VUR) in any of the patients with C-RE, whereas, in S-RE group, VUR was demonstrated in six (6/21 - 28.6%) patients. Pelviureteric junction obstruction in ectopic kidney was found in two patients with S-RE and one with C-RE. Two patients (2/17 - 11.7%) had neurogenic bladder due to meningomyelocele, accompanied by imperforate anus in C-RE group. There were no significant differences in other associated urological anomalies between two groups. Renal impairment developed mostly in patients with additional urinary anomaly. The children with RE may have associated urinary anomalies, of which VUR is the most common. Complete urological investigation and regular follow-up are required in selected cases.

Assessment of left ventricular function by tissue Doppler echocardiography in pediatric chronic kidney disease.

BACKGROUND: Cardiovascular (CV) disease remains the most common cause of mortality in chronic kidney disease (CKD). METHODS: In this cross-sectional study, 43 pediatric patients with CKD were divided into two groups according to their estimated glomerular filtration rate (eGFR): groups 1 and 2 (eGR; 29-75 and 15-29 mL/min/1.73 m(2), respectively). M - mode, conventional pulsed wave Doppler (cPWD) echocardiography and tissue Doppler imaging (TDI) were performed in all patients and 16 healthy controls. Maximal early (E wave) and late (A wave) diastolic flow velocities were assessed by cPWD. Using TDI, the early (E') and late (A') diastolic filling velocities were recorded. Early and late diastoles were evaluated using E' values and E/E' ratios, respectively. RESULTS: Left ventricular hypertrophy (LVH) was determined in 19/43 (44.2%) patients. The E/E' ratio was significantly higher in group 2 than in group 1 and controls. E/E' was found to be positively correlated with left ventricular mass (LVM) index, and negatively with hemoglobin (Hb) levels. Low Hb levels were only independent predictor of E/E' (p = 0.001, ß: -0.470, 95% CI: -0.764; -0.196). E' ratio was significantly lower in both patient groups compared to the controls. CONCLUSIONS: LVH and diastolic dysfunction are already present in early stages of CKD. Treatment of risk factors, such as anemia, is important to improve the clinical outcome.

Unilateral multicystic dysplastic kidney in children.

This study was performed to evaluate the clinical course and renal outcome of patients with unilateral multicystic dysplastic kidney (MCDK). We retrospectively reviewed the medical records of 59 cases with MCDK followed at Sanliurfa Children's Hospital between January 2009 and February 2013. The median age of the patients (boys 52.5%) was 31 months (range: 6-197) and the median follow-up period was 23 months (range: 6-111). Forty-two (71.2%) patients were diagnosed antenatally. The MCDKs were found more often on the right side (55.9%). The most frequently associated urological abnormality was contralateral vesicoureteral reflux (VUR) (26.6%). A total of 3 (5%) patients developed chronic renal insufficiency (CRI), 2 of whom had grade IV and V VUR; the other patient with CRI had a small and hyperechogenic contralateral kidney, suggesting dysplasia-hypoplasia, without any urological anomalies on imaging studies. The size of MCDK was unchanged in 20 (34%), had regressed in 26 (44%), and had increased in 9 (15.3%) patients. Total involution was documented in 4 (6.7%) patients. Compensatory hypertrophy occurred in 36/45 (80%) patients, with a mean age of 19.2±8.3 months. Proteinuria and hypertension were detected in 1 (1.7 %) patient each. In conclusion, abnormalities in the contralateral kidney in patients with MCDK increase the risk of renal failure. An initial investigation for associated urinary tract malformations should be done and the growth and function of the contralateral kidney, hypertension, and proteinuria should be monitored in all children with MCDK.

Magnesium excretion and hypomagnesemia in pediatric renal transplant recipients.

BACKGROUND: We investigated magnesium excretion and rate of hypomagnesemia in pediatric renal transplant recipients. METHOD: The medical records of 114 pediatric renal transplant recipients were retrospectively evaluated. After exclusion of 23 patients, 91 patients were included in the study. We recorded serum magnesium levels at the time of measurement of urine magnesium wasting. RESULTS: Mean serum magnesium levels were 1.73 ± 0.22 mg/dL and 38 of the patients (41%) had hypomagnesemia. There was a negative correlation between serum magnesium levels and estimated glomerular filtration rate and serum tacrolimus trough level (r=-0.215, p=0.040 and r=-0.409, p=0.000, respectively). Also, there was a statistically significant positive correlation between serum magnesium levels and transplantation duration (r=0.249, p=0.017). Mean fractional magnesium excretion was 5.9 ± 3.7% and 59 patients (65%) had high magnesium excretion. There was a significant negative correlation between fractional magnesium excretion and estimated glomerular filtration rate (r=-0.432, p=0.001). There was a significant positive correlation between fractional magnesium excretion and serum creatinine (r=0.379 p=0.003). CONCLUSION: Patients with higher tacrolimus trough blood levels, lower glomerular filtration rate and at early posttransplant period had risk of hypomagnesemia.

Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.

To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these alterations are disease-causing mutations. This study aims to evaluate the clinical features of the children with R202Q alteration. The medical records of children with R202Q alteration were reviewed retrospectively. A total of 225 children, with 113 males, were included. Fifty-five patients were heterozygous, 30 patients were homozygous for R202Q, and 140 patients were compound heterozygous. Classical familial Mediterranean fever (FMF) phenotype was present in 113 patients: 2 heterozygous and 7 homozygous R202Q, 46 double homozygous R202Q and M694V, and 58 compound heterozygous. The main clinical characteristics of the patients were abdominal pain in 71.5 %, fever in 37.7 %, arthralgia/myalgia in 30.2 %, arthritis in 10.2 %, chest pain in 14.6 % and erysipelas-like erythema in 13.3 %. The frequency of abdominal pain was significantly lower in patients with homozygous R202Q alteration (p = 0.021), whereas patients with heterozygous R202Q mutations, though not statistically significant, had a higher frequency of arthralgia/myalgia (40.0 %, p = 0.05). R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases. This alteration may be associated with a mild phenotype and shows phenotypic differences other than the common MEFV mutations.

Epstein-Barr virus infection in children with renal transplantation: 17 years experience at a single center.

OBJECTIVES: The aim of this study was to detect the frequency, time of occurrence, management and outcome of Epstein-Barr virus (EBV) infection and related complications in pediatric renal transplant recipients. METHODS: Pediatric renal allograft recipients transplanted between August 1994 and December 2011 at our hospital was evaluated retrospectively. The patients were divided into two groups; Groups 1 and 2 were composed of patients transplanted before and after November 2007, respectively, when plasma EBV DNA levels were periodically measured. RESULTS: The study included 166 children, 89 (53.6%) boys, with a mean age of 12.2 ± 3.8 years. Prior to transplantation, 144 patients (86.7%) were EBV seropositive. Within a median follow-up period of 36 months, 11 of 22 seronegative children (50%) developed primary EBV infection. EBV reactivation was observed in 23 of 144 children (15.9%). Two patients with primary infection developed post-transplant lymphoproliferative disorder, one of whom died. Elevated serum creatinine levels or graft loss were not observed in any patient with EBV reactivation. CONCLUSIONS: EBV DNA monitoring by PCR in high-risk pediatric renal transplant recipients will provide early diagnosis and treatment of EBV infections.

Association between vitamin D deficiency and disease activity in juvenile idiopathic arthritis.

Vitamin D has been shown to have immunomodulatory and anti-inflammatory properties in addition to its well-established role in the maintenance of mineral homeostasis and bone health. The aims of this study were to evaluate vitamin D status in patients with juvenile idiopathic arthritis (JIA), and also to examine whether there is an association between serum levels of 25-hydroxyvitamin D [25(OH)D] and disease activity in JIA. Children with JIA who had an outpatient visit between March and April 2011 were evaluated retrospectively. Clinical and laboratory findings and vitamin D levels were evaluated. Disease activity was calculated using JADAS-27. Serum vitamin D levels were measured using high-performance liquid chromatography (HPLC). A total of 47 patients, 29 (61.7%) of them girls, with a mean age of 9.3±3.9 years and a median follow-up period of 28 months, were included in the study. The mean serum vitamin D level of all patients was 17.7±11.6 ng/ml. Vitamin D insufficiency (serum vitamin D: 15-20 ng/ml) and deficiency (serum vitamin D level <15 ng/ml) were found in 9 (19.1%) and 25 patients (53.2%), respectively. The vitamin D level was <20 ng/ml in 72.3% of the children. Only 13 patients (27.7%) were found to have adequate vitamin D levels (>20 ng/ml). There was a significant negative correlation between vitamin D levels and disease activity (p=0.01, r=-0,37). The mean JADAS-27 score was significantly higher in patients with 25(OH)D levels <15 ng/ml than in patients with 25(OH)D levels >15 ng/ml (p = 0.003). We suggest that vitamin D deficiency may be a possible modifiable risk factor affecting disease activity in JIA.

Hyperuricemia in pediatric renal transplant recipients.

OBJECTIVES: We sought to evaluate the prevalence and confounding clinical variables of hyperuricemia in pediatric kidney transplant patients. MATERIALS AND METHODS: We retrospectively evaluated the medical records of 151 pediatric renal transplant recipients who received their grafts at Akdeniz University Medical Faculty in Antalya, Turkey, with a follow-up longer than 6 months. This retrospective, single-center study included 117 pediatric renal transplant recipients, after we had excluded the patients with changes in immunosuppressive treatment and graft loss, who were receiving therapy with allopurinol and furosemide. Patient information and laboratory data were obtained from patient charts and an electronic hospital database. RESULTS: Mean uric acid levels of patients were 311 ± 74 µmol/L, and 24 of all of the patients (20%) had high uric acid levels. Fifteen patients taking tacrolimus (16%), and 9 of patients taking cyclosporine (39%) had hyperuricemia. The hyperuricemia rate of patients taking cyclosporine was significantly higher than it was for those patients taking tacrolimus (P = .014). Mean levels of uric acid in patients taking cyclosporine were higher than those of patients taking tacrolimus (344 ± 62 µmol/L and 303 ± 75 µmol/L; P = .006). There was a significant positive correlation between mean uric acid concentrations, and both serum creatinine (P = .000; r=0.487) and cystatin C (P = .000; r=0.433). There was negative correlation between mean uric acid concentration and estimated glomerular filtration rate (P = .000; r=-0.417). Mean uric acid levels of patients with intact graft function (estimated glomerular filtration rate ≥ 60 mL/min/1.73 m²) was lower than the patients with a low estimated glomerular filtration rate (291 ± 67 µmol/L and 353 ± 71 µmol/L; P = .000). Mean uric acid level of patients with normal body mass index was significantly lower than that of patients who were obese-overweight (301 ± 64 µmol/L vs 343 ± 94 µmol/L; P = .045). CONCLUSIONS: We found 20% of our patient group had high uric acid levels. We also found that lower glomerular filtration rate, higher serum creatinine, cystatin c, obesity, and being overweight were risk factors for hyperuricemia in pediatric renal transplant recipients.

Circulating endothelial cells in pediatric renal transplant recipients.

BACKGROUND: An increase in the number of circulating endothelial cells (CEC) indicates endothelial damage and the risk of cardiovascular disease. The aim of our study was to investigate the association of CEC with various clinical parameters in pediatric renal transplant recipients. METHODS: CEC, defined as CD45(-)CD146(+), were enumerated by flow cytometry from the peripheral blood of 50 pediatric renal transplant recipients and 20 healthy controls. Clinical parameters, including renal function tests, fasting blood glucose, serum cholesterol and triglyceride, cyclosporine A (CsA) (trough and 2nd-hour) and tacrolimus (tac) trough blood levels and their association with CEC numbers were analyzed. RESULTS: CEC numbers of patients were higher than those of controls (respectively, 128 ± 89 cells/ml (42-468 cells/ml), 82 ± 33 cells/ml (32-137 cells/ml), p = 0.024). There was a statistically significant negative correlation between CEC numbers and glomerular filtration rate (GFR) (r = -0.300, p = 0.012). There was also a statistically positive association between CEC numbers and transplant duration as well as cyclosporine trough level (respectively, r = 0.397, p = 0.004, r = 0.714, p = 0.004). CEC numbers in patients on tac and CsA were similar (p = 0.716). CONCLUSIONS: Our results demonstrate that renal transplant recipients with high CsA trough blood level, longer transplant duration, and lower GFR, are at greater risk of developing endothelial damage.

Renal function and linear growth of children with nephrocalcinosis: a retrospective single-center study.

The aim of this study was to analyze the etiology of nephrocalcinosis (NC) and whether it has any effect on growth and renal function in children. Forty-three children who were diagnosed with bilateral NC were studied retrospectively. Two neonates treated with furosemide and five premature infants were excluded from the study. The most common condition leading to NC was hereditary tubulopathies (50%). Data of 27 children who had a follow-up period of at least two years were examined in more detail. Of the 27 patients, the median age at first examination was 12 (range: 2-132) months and median follow-up time was 57 (range: 24-209) months. Thirteen of 27 (48.1%) patients had height standard deviation scores (hSDS) <-2 at presentation, and 6 (22.2%) patients who had normal glomerular function were still below -2 SDS at the last examination. Hypercalciuria was present in 25 (92.6%) patients at the first evaluation and in 6 (22.2%) patients at the last examination. The degree of NC worsened in 6 (22.2%), remained stable in 15 (55.5%) and decreased in 6 (22.2%) patients during the followup period. Chronic renal insufficiency (CRI) developed in 5 patients without there being any increase in the degree of NC. In conclusion, growth and renal function in these patients generally depend on the nature of the underlying disease but not the degree of NC.

Atypical hemolytic uremic syndrome due to factor H autoantibody.

Atypical hemolytic uremic syndrome (aHUS) is a disease caused by pathologies in the alternative complement system. The prevalence of aHUS is 10% of all aHUS cases. The subgroup of aHUS designated as DEAP (DEficiency of CFHR Proteins and CFH Autoantibody Positive)-HUS because of autoantibody to complement factor H (CFH) and CFH-related protein deficiency is seen very rarely, and the prevalence is 6% of all aHUS cases in the literature. We present here a female patient with DEAP-HUS. A 7.5-year-old girl with recurrent attacks of HUS had low C3 level. We initiated plasmapheresis treatment. After further analysis of the complement system, the result was compatible with DEAP-HUS, so we initiated immunosuppressive treatment. There were also family members with deficiency of CFHR-1 and CFHR-3, but they had no CFH autoantibody and no symptoms of HUS. In atypical cases of HUS, we should investigate complement status, especially for factor H autoantibody, for which treatment options differ from those of the other types of aHUS.

MEFV gene mutations in Turkish children with juvenile idiopathic arthritis.

UNLABELLED: Mutations of the Mediterranean fever (MEFV) gene, which encodes pyrin protein, leads to familial Mediterranean fever (FMF) and a connection between MEFV mutations and rheumatic diseases has been suggested. The aim of this study was to explore the frequency and clinical significance of MEFV mutations in children with juvenile idiopathic arthritis (JIA). In this study, children with JIA, who had no typical symptoms of FMF, were screened for the mutations in exons 2 and 10 of the MEFV gene by direct sequencing. A total of 96 children, 56 girls (58.3%), with a median age of 11 years (2-18 years) were included. Patients were classified according to JIA subgroups as oligoarthritis in 43 (44.8%), rheumatoid factor-negative polyarthritis in 22 (22.9%), rheumatoid factor-positive polyarthritis in 2 (2.1%), systemic arthritis in 12 (12.5%) patients, enthesitis-related arthritis in 16 (16.7%), and psoriatic arthritis 1 (1.04%). A total of 31 children (32.3%) had MEFV mutations: 25 heterozygous, 2 homozygous, and 4 compound heterozygous. There were 22 (11.4%) exon 10 mutations (M694V, R761H, K695R, V726A, R653H) and 15 (7.8%) exon 2 mutations (E148Q, G304R, E148V, T267I). The allele frequencies of MEFV mutations were found to be 19.27%, which is higher than the general population [p = 0.03, (odds ratio (OR):1.93, 95% confidence interval (CI): 1.09-3.41)]. MEFV mutation carrier rates were significantly higher in antinuclear antibody (ANA) negative than in ANA positive patients [p = 0.01, (OR: 0.25, 95% CI: 0.085-0.74)] and in males than in females [p = 0.001, (OR: 0.197, 95% CI: 0.078-0.495)]. Also, there was a statistically significant difference between the MEFV mutation carrier rates and the subgroups of JIA (p = 0.005). CONCLUSION: These findings suggest that mutations of the MEFV gene may be responsible for rheumatic diseases other than FMF, and patients with JIA especially males, ANA negatives, and ERA subgroups should be screened for MEFV gene mutations in countries where FMF is frequent.