Pediatric kidney care experience after the 2023 Turkey/Syria earthquake.

BACKGROUND/AIMS: Two earthquakes on February 6th, 2023 destroyed ten cities in Türkiye. We report our experience with pediatric victims during these catastrophes, with a focus on crush syndrome related-acute kidney injury (Crush-AKI) and death. METHOD: A web-based software was prepared. Patient demographics, time under rubble (TUR), admission laboratory data, dialysis, and kidney and overall outcomes were asked. RESULTS: 903 injured children (median age: 11.62 years) were evaluated. Mean TUR was 13 h (Interquartile range-IQR: 32.5), max 240 h). 31 of 32 patients with a TUR of >120 h survived. The patient who rescued after ten days survived.Two-thirds of the patients were given 50 mEq/L sodium-bicarbonate in 0.45% sodium-chloride solution on admission day. 58% of patients were given intravenous fluid (IVF) at a volume of 2000-3000 mL/m2 body surface area (BSA), 40% of 3000-4000 mL/m2 BSA, and only 2% of >4000 mL/m2 BSA. 425 patients had surgeries, 48 suffered from major bleeding. Amputations were recorded in 96 patients. Eighty-two and 66 patients required ventilator and inotropic support, respectively.Crush-AKI developed in 314 patients (36% of all patients). 189 patients were dialyzed. Age > 15 years, creatine phosphokinase (CK)≥20 950 U/L, TUR≥10 h, and the first-day IVF volume < 3000-4000 mL/m2 BSA were associated with Crush-AKI development. 22 deaths were recorded, 20 of 22 occurred in patients with Crush-AKI and within the first 4 days of admission. All patients admitted after 7 days survived. CONCLUSIONS: This is the most extensive pediatric kidney disaster data after an earthquake. Serum CK level was significantly associated with Crush-AKI at the levels of >20 950 U/L, but not with death. Adolescent age and initial IVF of less than 3000-4000 mL/m2 BSA were also asscoiated with Crush-AKI. Given that mildly injured victims can survive longer periods in the disaster field, we suggest uninterrupted rescue activity for at least 10 days.

Complement gene mutations in children with C3 glomerulopathy: do they affect the response to mycophenolate mofetil?

BACKGROUND: C3 glomerulopathy (C3G) is a complement-mediated disease. Although genetic studies are not required for diagnosis, they are valuable for treatment planning and prognosis prediction. The aim of this study is to investigate the clinical phenotypes, kidney survival, and response to mycophenolate mofetil (MMF) treatment in pediatric C3G patients with and without mutations in complement-related genes. METHODS: Sixty pediatric C3G patients were included, divided into two groups based on complement-related gene mutations. Demographic and clinical-pathological findings, treatment modalities, and outcome data were compared, and Kaplan-Meier analysis was performed for kidney survival. RESULTS: Out of the 60 patients, 17 had mutations. The most common mutation was in the CFH gene (47%). The mean age at diagnosis was higher in the group with mutation (12.9 ± 3.6 vs. 11.2 ± 4.1 years, p = 0.039). While the patients without mutation most frequently presented with nephritic syndrome (44.2%), the mutation group was most likely to have asymptomatic urinary abnormalities (47.1%, p = 0.043). Serum parameters and histopathological characteristics were similar, but hypoalbuminemia was more common in patients without mutation. During 45-month follow-up,10 patients progressed to chronic kidney disease stage 5 (CKD5), with 4 having genetic mutation. The time to develop CKD5 was longer in the mutation group but not significant. MMF treatment had no effect on progression in either group. CONCLUSIONS: This study is the largest pediatric C3G study examining the relationship between genotype and phenotype. We showed that the mutation group often presented with asymptomatic urinary abnormalities, was diagnosed relatively late but was not different from the without mutation group in terms of MMF treatment response and kidney survival.

Clinical usefulness of anti-nuclear antibody in childhood: real-world experience at a tertiary care center : Usefulness of ANA in pediatric autoimmune diseases.

We evaluated the reasons for requesting anti-nuclear antibody (ANA) analysis in clinical practice at a tertiary center and the performance of ANA in pediatric autoimmune diseases. Patients under 18 years of age who underwent ANA testing for various symptoms between 2013 and 2017 were included. We retrieved data from medical records, including demographic and clinical characteristics, diagnoses, ANA results, titers, and staining patterns. The performance assessment tools were calculated according to the ANA titer for autoimmune diseases. Risk factors for autoimmune diseases in ANA-positive patients were evaluated using logistic regression analysis. Changes in ANA titer and seroconversion were evaluated using repeated ANA analyses. A total of 3812 patients underwent ANA. Medical records of 3320 patients were obtained. The rate of ANA positivity was 27.4%. ANA was requested most frequently because of musculoskeletal findings in 1355 patients (40.8%). Juvenile idiopathic arthritis (n = 174, 20.2%) was the most common diagnosis in ANA-positive patients, followed by systemic lupus erythematosus (n = 52, 6%). For autoimmune diseases, a titer of ≥ 1:100, a sensitivity of 40.1%, and a specificity of 77.1% were observed. At a titer ≥ 1:1000, the sensitivity and specificity were 24.1% and 89%, respectively. Homogeneous staining was an additional risk factor for autoimmune diseases in ANA-positive patients by multivariate logistic regression analysis (OR [95% CI]: 4.562 [3.076-6.766], p < 0.001).    Conclusion: Our results revealed that the performance of the ANA test in diagnosing autoimmune diseases in pediatric clinical practice was poor. Therefore, clinical findings should be carefully evaluated before ANA testing is performed. What is Known: • ANA can be detected in systemic autoimmune rheumatic diseases. • The diagnostic role of ANA is controversial, especially in childhood. What is New: • One in four patients who requested the ANA test had an autoimmune disease. • Less than half of patients with an autoimmune disease had ANA positivity.

A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.

Until recently, mandibuloacral dysplasia (MAD) with type A and type B lipodystrophy was the first to come to mind in the association of mandibular hypoplasia, lipodystrophy, and acro-osteolysis. However, it has recently been added to the differential diagnosis of MAD, a newly defined syndrome, called MDPS. MDPS is a skeletal dysplasia characterized by postnatal growth retardation, hypotonia, generalized lipodystrophy, skin changes, progeroid traits, and dysmorphic facial features, including prominent eyes, long pinched nose, mandibular hypoplasia, and a small mouth. Biallelic null variants of the MTX2 gene are responsible for this syndrome. We performed whole-exome sequencing (WES) in a 6-year-old patient with skeletal dysplasia. WES revealed a novel homozygous c.543+1G>T splice site variant in the MTX2 gene. We also extracted total RNA from peripheral blood and used reverse transcription-polymerase chain reaction to generate cDNA. Sanger sequencing from cDNA showed that exon 8 of MTX2 was skipped. This study adds to the genetics and phenotype of MDPS and underlines the importance of comprehensive clinical and molecular research.

Comparison of infants and children with urolithiasis: a large case series.

We evaluated the demographic features, etiologic risk factors, treatment strategies, and outcome of the infants and children with urolithiasis (UL). A retrospective multicenter study was conducted including 23 Pediatric Nephrology centers in Turkey. The medical records of 2513 children with UL were reviewed. One thousand, three hundred and four boys and 1209 girls (1.1:1) were reported. The mean age at diagnosis was 39.5 ± 35 months (0.4-231 months), and 1262 patients (50.2%) were in the first year of life (infants). Most of the cases with infantile UL were diagnosed incidentally. Microlithiasis (< 3 mm) was found in 794 patients (31.6%), and 64.5% of the patients with microlithiasis were infants. Stones were located in the pelvis-calyces in 63.2% (n: 1530) of the cases. The most common stone type was calcium oxalate (64.6%). Hypocitraturia was the most common metabolic risk factor (MRF) in children older than 12 months, but in infancy, hypercalciuria was more common. Fifty-five percent of the patients had received at least one medical treatment, mostly potassium citrate. At the end of a year's follow-up, most of the patients with microlithiasis (85%) showed spontaneous remission. The rate of spontaneous stone resolution in infants was higher than in children. Spontaneous remission rate was higher in cases with MRF ( - ) stones than in MRF ( +) stones. However, remission rate with medical treatment was higher in cases with MRF ( +) stones. This study represents the results of a large series of infants and children with UL and showed that there are several differences such as underlying metabolic and anatomic abnormalities, clinical course, and stone remission rates between infants and children with urinary stone disease.

A nationwide retrospective study in Turkish children with nephrocalcinosis.

BACKGROUND: Nephrocalcinosis (NC) is defined as calcium deposition in the kidney parenchyma and tubules. This study aims to determine the etiology, risk factors, and follow-up results of patients with NC in Turkey. METHODS: Patients diagnosed with NC in the pediatric nephrology Department Units of 19 centers from all geographical regions of Turkey over a 10-year period (2010-2019) were included in the study. The medical records from the centers were reviewed and demographic data, admission complaints, medical history, systemic and genetic disorders, risk factors for NC, treatment details, and presence of NC after one-year follow-up, were recorded retrospectively. RESULTS: The study sample included 195 patients (88 females, 107 males). The mean age at diagnosis was 39.44 ± 47.25 (0.5-208) months; 82/190 patients (43.2%) were diagnosed incidentally; 46/195 patients (23.6%) had an underlying disease; idiopathic hypercalciuria was detected in 75/195 (38.4%) patients. The most common systemic diseases were distal renal tubular acidosis in 11/46 patients (23.9%), primary hyperoxaluria in 9/46 patients (19.6%) and Bartter syndrome in 7/46 patients (15.3%). After one year of follow-up, NC resolved in 56/159 patients (35.2%) and they all did not have an underlying systemic disease. DISCUSSION: The most common presentation of NC was incidental. Distal renal tubular acidosis and primary hyperoxaluria were the main systemic diseases leading to NC, while hypercalciuria was the most common metabolic risk factor. Nephrocalcinosis was found to remain in most of the patients at a one-year follow-up. It may resolve particularly in patients with no underlying systemic disease.

Erythropoietin Resistance Index and the Affecting Factors in Children with Peritoneal Dialysis.

BACKGROUND: Erythropoiesis-stimulating agents (ESAs) are used to treat anemia in CKD. Erythropoietin resistance index (ERI) is a useful tool used to evaluate the response to ESAs. In this study, we aimed to evaluate the causes of high ERI in children undergoing peritoneal dialysis (PD). METHOD: Patients who had been on PD for at least 1 year were included in this retrospective study. Demographic characteristics, residual kidney function (RKF), adequacy of dialysis, peritoneal glucose exposure, the number and reason for hospitalization, and medications were recorded. Anemia and laboratory parameters that may affect anemia were noted by taking the average of laboratory values in the last follow-up year (time-averaged). The weekly ESA dose was proportioned to the annual average hemoglobin value and body weight to calculate the ERI in terms of U/kg/week/g/dL. RESULTS: A total of 100 patients were included in the study. The mean ESA dose and ERI value were 119.8 ± 66.22 U/kg/week and 13.01 ± 7.52 U/kg/week/g/dL, respectively. It was determined that the patients <5 years of age have very high ERI value, and these patients need 2 times more ESA than those >10 years of age. Absence of RKF, large number of hospitalization, and ACEI use were also found to affect the ERI value negatively. CONCLUSION: We demonstrate that the most important factor affecting ERI value is young age. We also reveal that absence of RKF, large number of hospitalization, and ACEI use are also important variables affecting the ERI value.

Do children with solitary or hypofunctioning kidney have the same prevalence for masked hypertension?

BACKGROUND: Having a low nephron number is a well-known risk factor for hypertension. There is an inverse relationship between the filtration surface area and systemic hypertension. A significant percentage of masked hypertension can be detected in children with nephron loss by ambulatory blood pressure monitoring (ABPM). METHODS: We prospectively investigated ABPM results of children having reduced kidney mass with normal office blood pressures (BPs) and kidney function. Forty-three children with congenital solitary kidney (group 1), 11 children with acquired solitary kidney (group 2), and 76 children with hypofunctioning kidney (group 3) were compared with age, gender, and BMI-matched healthy control group (group 4). The dietary salt intake of 76 patients was evaluated as salt equivalent (g/day). The primary endpoint was change from baseline in mean 24-h ABPM variables and the proportion of patients with masked hypertension when assessed by ABPM. RESULTS: The masked hypertension ratio of all patients was 12.3% when assessed with ABPM. Night hypertension was significantly higher in all patient groups than in the control group (p = 0.01). Diastolic BP loads of groups 1 and 3 were higher than in controls (p = 0.024). Systolic BP loads were higher only in group 1 than in the control group (p = 0.003). The dietary salt equivalent of patients in group 1 correlated positively with 24-h SBP and mean arterial pressure (MAP) values. Patients with excessive dietary salt intake in group 1 had a significantly higher diastolic BP load than those without excessive salt intake in group 1 (p = 0.002). CONCLUSIONS: Masked hypertension can be seen in children with a solitary kidney or when one of the kidneys is hypofunctioning. Systolic BP loads are higher in children with congenital solitary kidney, and salt intake correlates with systolic BP profiles especially in those. Our results suggest that being born with a congenital solitary kidney increases predisposition to hypertension and salt sensitivity.

Calcified renal artery aneurism in the right kidney causing hypertension.

The renal artery aneurysm (RAA) is defined as a renal artery segment that is twofold dilated than normally. It is very rare in children and often asymptomatic. However, it can cause severe hypertension (HTN) and kidney failure. Herein, we report a 14-year-old boy who with RAA which was presented with back pain. His medical history was remarkable for essential HTN that was refractory to antihypertensive medications. Plain abdominal radiography revealed calcification at the right flank area. On computed tomography images, calcification surrounding the right renal artery was detected. Selective renal angiography showed totally occluded right renal artery segment. Calcified RAA was detected on the operation and removed. Two months after, blood pressure was under control, but there was no functioning right kidney on DMSA. We think that clinicians should keep in mind RAA in the differential diagnosis of treatment-resistant HTN and use other radiologic methods even if Doppler is normal.

Patient Outcomes of Henoch-Schönlein Purpura Nephritis According to the New Semiquantitative Classification.

Background: A new semiquantitative classification (SQC) for pediatric Henoch-Schönlein nephritis (HSN) was defined recently. The outcomes of pediatric HSN patients are reevaluated according to the new classification. Methods: Primary kidney biopsies from 80 HSN patients were scored using the new SQC. The International Study of Kidney Disease in Children (ISKDC) and SQC classifications were compared in terms of the patient outcomes. Outcomes were defined as: Outcome A (n = 44) patients with no sign of renal disease, Outcome B (n = 32) patients with minor urinary abnormalities, and Outcome C (n = 4) patients with active renal disease. Results: The patients with outcome C had significantly higher biopsy scores and chronicity indices than patients in group A. There was no significant difference in areas under the curve between total biopsy SQC scores and ISKDC findings. Conclusions: Our results suggest that the modified SQC is not more sensitive than ISKDC classification for predicting the outcome in HSN cases.

Epidermolysis bullosa complicated with nephrotic syndrome due to AA amyloidosis: A case report and brief review of literature.

Epidermolysis bullosa (EB) encompasses a clinically and genetically heterogeneous group of rare inherited diseases characterized by marked mechanical fragility of epithelial tissues with blistering and erosions following minor trauma. Amyloidosis is one of the most important complications of EB mostly seen in recessive dystrophic EB (RDEB) patients and can involve the kidney, bowel, liver, and also respiratory system. Herein, we present a child, who is probably the youngest case of genetically diagnosed RDEB, complicated with amyloidosis reported in literature. A 6-year-old boy who was diagnosed with EB was referred to our center with nephrotic-range proteinuria and hypoalbuminemia. He had homozygous mutation in COL7A1 gene. Kidney biopsy was remarkable for amyloidosis with positive Congo red staining, and amyloid fibrils were seen on electron microscopy. Although he did not have any symptoms of autoimmune diseases and mutation in the MEFV gene, he was given colchicine because of positive family history for familial Mediterranean fever and amyloidosis.

Determination of restless legs syndrome prevalence in children aged 13-16years in the provincial center of Kayseri.

OBJECTIVE: This study was conducted to determine the prevalence rate of restless legs syndrome (RLS) and associated factors in adolescents aged 13-16years in the provincial center of Kayseri. MATERIALS AND METHODS: The study sample included 5720 adolescents who were selected from among 74,421 grade 7-10 students aged 13-16years in the provincial center of Kayseri. Overall, datas from 4792 subjects were included into analysis. Data were collected by using a self reported questionnaire and the Epworth Sleepiness Scale (ESS). The prevalence rate of RLS was determined by questionnaire datas and phone interviews. The effects of age, gender, economical status and body weight on RLS prevalence rate were analyzed. Mean ESS score was calculated. The effect of RLS on academic success, as measured by grade point average, was also assessed. The subjects were stratified as underweight, normal, overweight and obese according to the body mass index and the RLS prevalence rate was compared among groups. RESULTS: The RLS prevalence rate was determined to be 2.9% among adolescents aged 13-16years in the study group. It was found that gender and economical status had no significant effect on RLS prevalence. Mean age at symptom onset was 11.4years of age. There was a positive family history in 11.3% of subjects. Mean body mass index (BMI) was found to be significantly higher in subjects with RLS (21.5±3.8 vs. 20.5±3.2). Academic success (72.0±11.2 vs. 77.0±12.0) was found to be poorer and daytime sleepiness level, as measured by ESS (11.4±3.9 vs. 6.3±4.0), was found to be higher in subjects with RLS. CONCLUSION: The RLS prevalence rate was 2.9% in the study sample while gender and economical status had no significant effect on prevalence rate. The RLS, which results in decreased sleep quality and academic success, is an important disorder with a considerable prevalence in the population.