Corneal endothelial cell morphology in children with autosomal recessive Alport syndrome: a longitudinal study.

PURPOSE: To evaluate the corneal endothelial cell morphology in children with autosomal recessive Alport syndrome (ARAS). METHODS: This is a longitudinal, prospective cohort study that evaluated pediatric patients with genetically diagnosed ARAS. Fifty-eight eyes of 29 pediatric patients (12 patients, 17 controls) underwent a full ophthalmic examination. Corneal endothelial cell density (ECD) (cells/mm²), coefficient variation (CV) of cell area (polymegathism), the percentage of hexagonal cells (HEX) (pleomorphism), and central corneal thickness (CCT) were analyzed automatically using a noncontact specular microscopy. RESULTS: The mean ECD was 2904 ± 355.48 cell/mm² in the ARAS group and 3263.20 ± 261.71 cell/mm² in the control group (p = 0.004). In the ARAS group, the mean CV was 46.53 ± 10.43, which was significantly higher than that in controls (p = 0.026). The mean HEX was 48.86 ± 14.71 in the ARAS group and 59.06 ± 10.64 in the control group (p = 0.038). The mean CCT was 565.26 ± 39.77 µm in the ARAS group and 579.66 ± 31.65 µm in the control group (p = 0.282). The comparison of endothelial cell characteristic of the ARAS group with 1-year follow-up is as follows: The mean ECD decreased from 2904 ± 355.48 cell/mm² to 2735 ± 241.58 cell/mm² (p = 0.003). The mean CV increased from 46.53 ± 10.43 to 47.93 ± 10.50 (p = 0.471). The mean HEX decreased from 48.86 ± 14.71 to 48.50 ± 10.06 (p = 0.916). The mean CCT decreased from 565.26 ± 39.77 µm to 542.86 ± 40.39 µm (p = 0.000). CONCLUSION: Measurement of ECD and percentage of hexagonality can also be used as an indicator of the health of the corneal endothelium. In this study, the mean ECD and HEX were significantly lower in ARAS group than in age-matched pediatric controls. Polymegathism, which reflects cellular stress, was statistically significantly higher in ARAS group. The mean ECD and CCT decreased significantly at 1-year follow-up. This study may demostrated that endothelial damages and stress in ARAS patients appear in childhood and show a rapid increase with age.

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.

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.

Evaluation of the Claria sharesource system from the perspectives of patient/caregiver, physician, and nurse in children undergoing automated peritoneal dialysis.

BACKGROUND: Automated peritoneal dialysis (APD) is increasingly preferred worldwide. By using a software application (Homechoice with Claria sharesource system (CSS)) with a mod-M added to the APD device, details of the home dialysis treatment become visible for PD nurses and physicians, allowing for close supervision. We aimed to evaluate the perceptions of patients/caregivers, PD nurses, and physicians about the advantages and disadvantages of CSS. METHODS: Three different web-based questionnaires for patients/caregivers, nurses, and physicians were sent to 15 pediatric nephrology centers with more than 1 year of experience with CSS. RESULTS: Respective questionnaires were answered by 30 patients/caregivers, 22 pediatric nephrologists, and 15 PD nurses. Most of the nurses and physicians (87% and 73%) reported that CSS improved patient monitoring. A total of 73% of nurses suggested that CCS is not well known by physicians, while half of them reported reviewing CSS data for all patients every morning. Sixty-eight percent of physicians thought that CSS helps save time for both patients/caregivers and healthcare providers by reducing visits. However, only 20% of patients/caregivers reported reduced hospital visits. A total of 90% of patients/caregivers reported that being under constant monitoring made them feel safe, and 83% stated that the patient's sleep quality improved. CONCLUSIONS: A remote monitoring APD system, CSS, can be successfully applied with children for increased adherence to dialysis prescription by giving shared responsibility and may help increase the patient's quality of life. This platform is more commonly used by nurses than physicians. Its potential benefits should be evaluated in further well-designed clinical studies with larger patient groups. A higher resolution version of the Graphical abstract is available as Supplementary information.

Evaluation of corneal and lens densitometry in children with familial Mediterranean fever.

BACKGROUND: This study aimed to investigate the presence of subclinical inflammation in the eye by examining corneal and lens changes in children with familial Mediterranean fever (FMF) and provide the regulation for follow-up and treatment protocols according to the presence of signs of inflammation. DESIGN: This is a cross-sectional, case-control study. METHODS: Topographic parameters and corneal and lens densitometry of 48 patients with FMF (10.12 ± 3.84 years [range: 5-19 years]) and 33 healthy volunteers (10.94 ± 3.78 years [range: 5-19 years]; p > 0.05) were evaluated with a Scheimpflug camera. For corneal densitometric measurements, the cornea was divided into four concentric radial zones and anterior, central, and posterior layers according to corneal thickness. The mean densitometry value for the crystalline lens was calculated in three zones around the center of the pupil. RESULTS: Corneal light backscattering in all layers and zones of the cornea were similar between the patient and control groups. Lens densitometry values in the three zones did not differ between the two groups (p > 0.05). Maximum lens densitometry values were found to be significantly higher in the patient group (22.14 vs 19.11; p = 0.011). CONCLUSION: Monitoring the cornea and lens density in patients with FMF using Pentacam may help to show the presence of subclinical inflammation and regulate the follow-up and treatment protocols. Larger sample sizes and prospective design studies are needed to reach more conclusive results.

The Prevalence of Post-COVID-19 Hypertension in Children.

Coronavirus disease 2019 (COVID-19) is the greatest pandemic in a century. In this study, children with mild COVID-19 infections were evaluated at least 8 weeks after the polymerase chain reaction (PCR) test positivity, and the frequency of hypertension (HT) in these children was investigated. These results were compared to those of the control group, which consisted of 32 healthy children in the same age range as the trial group but who did not have COVID-19. This prospective multicenter study was conducted including children aged 10 to 18 years. There were 16 patients (16%) who had elevated systolic blood pressure, while 11 patients (11%) had stage-1 HT and 1 patient (1%) had stage-2 HT. It was revealed that children with COVID-19 had significantly higher systolic and diastolic blood pressures than normal healthy children. The findings of this study contribute toward increasing the understanding of the sequelae of mild COVID-19 in pediatric patients.

Evaluation of corneal and lens densitometry with Pentacam HR in children with Nephrotic Syndrome: A controlled, prospective study.

BACKGROUND: This study aimed to compare the corneal and lens densitometry values between children with Nephrotic Syndrome (NS) and healthy individuals. METHODS: This cross-sectional comparative study included 23 patients with NS and 26 healthy controls. Corneal topographic and corneal and lens densitometric values were measured using Pentacam HR. Densitometry measurements in different layers were analyzed and compared between groups. Correlations between steroid cumulative dose, age at diagnosis of the disease, duration of disease, number of relapses, and patients' densitometries values were evaluated. RESULTS: The measurements of the keratometry, horizontal white-to-white, and iridocorneal angle values were significantly different between groups (p < 0.05). The 0-2 mm and 2-6 mm anterior corneal densitometry values were significantly higher in NS patients. (p = 0.009 and p = 0.033, respectively). The lens densitometry values of all zones were higher in the eyes with NS but there was no statistically significant difference from the healthy control eyes (p > 0.05). There was a positive strong correlation between the cumulative steroid dose and the posterior lens zone densitometry, a positive weak correlation between the number of attacks and anterior corneal densitometry, and between disease duration and central corneal densitometry and average lens density. CONCLUSION: In eyes with NS, changes occur in corneal and lens densitometry in correlation with disease duration, number of attacks, and cumulative steroid dose. Significant density changes were detected especially in the anterior cornea and central 0-6 mm area.

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.

Safety and effectiveness of a 2009 H1N1 vaccine in chronic kidney disease children.

BACKGROUND/AIMS: Influenza vaccination is the most effective method for preventing influenza infection and its complications. The risk groups are children with chronic kidney diseases (CKDs) such as children on peritoneal dialysis (PD) and hemodialysis (HD), predialysis CKD (pCKD) and renal transplant (RTx) patients and immunosuppressed children. The aim of the present study was to assess the safety and immunogenicity of a single administration of a monovalent inactivated pandemic (H1N1) 2009 vaccine in children with CKD. METHODS: Patients were given a single intramuscular injection of 0.5 ml of monovalent inactivated vaccine. RESULTS: Totally, there were 25 pediatric patients with a diagnosis of CKD (16 PD, 2 HD, 3 pCKD and 4 RTx). Seroconversion was observed in 15 of the 16 patients with PD. Seroconversion occurred in all patients undergoing pCKD and HD. However, 3 of the RTx patients were seronegative. CONCLUSION: This study demonstrated a high level of immunogenicity and safety of an (H1N1) 2009 influenza vaccine in children with CKD.

Comparison of the efficacy of serum amyloid A, C-reactive protein, and procalcitonin in the diagnosis and follow-up of necrotizing enterocolitis in premature infants.

PURPOSE: The aim of this study was to compare the efficacy of serum amyloid A (SAA) with that of C-reactive protein (CRP), and procalcitonin (PCT) in diagnosis and follow-up of necrotizing enterocolitis (NEC) in preterm infants. METHODS: A total of 152 infants were enrolled into this observational study. The infants were classified into 3 groups: group 1 (58 infants with NEC and sepsis), group 2 (54 infants with only sepsis), and group 3 (40 infants with neither sepsis nor NEC, or control group). The data including whole blood count, CRP, PCT, SAA, and cultures that were obtained at diagnosis (0 hour), at 24 and 48 hours, and at 7 and 10 days were evaluated. RESULTS: A total of 58 infants had a diagnosis of NEC. Mean CRP (7.4 ± 5.2 mg/dL) and SAA (46.2 ± 41.3 mg/dL) values of infants in group 1 at 0 hour were significantly higher than those in groups 2 and 3. Although the area under the curve of CRP was higher at 0 hour in infants with NEC, there were no significant differences between groups with respect to the areas under the curve of SAA, CRP, and PCT at all measurement times. Levels of SAA decreased earlier than CRP and PCT in the follow-up of NEC (mean SAA levels were 45.8 ± 45.2, 21.9 ± 16.6, 10.1 ± 8.3, and 7.9 ± 5.1 mg/dL at evaluation times, respectively). Levels of CRP and SAA of infants with NEC stages II and III were significantly higher than those with only sepsis and/or NEC stage I. CONCLUSIONS: Serum amyloid A, CRP, and PCT all are accurate and reliable markers in diagnosis of NEC, in addition to clinical and radiographic findings. Higher CRP and SAA levels might indicate advanced stage of NEC. Serial measurements of SAA, CRP, and PCT, either alone or in combination, can be used safely in the diagnosis and follow-up of NEC.

Thyroid functions in long-term survivors of pediatric Hodgkin's lymphoma treated with chemotherapy and radiotherapy.

OBJECTIVE: Post-treatment endocrine disturbances are common in cancer patients who have received radiotherapy or chemotherapy. The objective of this study was to evaluate the thyroid functions of long-term survivors of pediatric Hodgkin's lymphoma treated with chemotherapy and radiotherapy. METHODS: Thyroid functions of 55 Hodgkin's lymphoma patients (M/F:2.05/1) in complete remission were evaluated retrospectively. RESULTS: The mean age of the patients at diagnosis was 10.35±4.09 (range: 2.83-17) years and the mean follow-up period was 5.54±3.68 (range: 0.92-13.92) years. All patients received chemotherapy; a total of 50 patients (90.9%) underwent radiotherapy, 42 (76.4%) of whom received neck/mantle radiotherapy. Thyroid function tests were abnormal in 14 (24.5%) patients and normal - in the remaining 41 (74.5%). A diagnosis of subclinical and overt hypothyroidism was made in 11 (78.6%) and 3 (21.4%) patients with abnormal thyroid function tests, respectively. Nearly one-fourth (21.4%) of all thyroid function disorders were detected in the first year of follow-up. A statistically significant correlation was found between the dose of mantle radiotherapy and thyroid function disorder (p=0.002). In addition, statistically significant correlations were established between thyroid examination or thyroid ultrasonography findings and thyroid functions (p <0.001 or p=0.006, respectively). CONCLUSIONS: Radiation-induced thyroid disorders may develop in pediatric Hodgkin's lymphoma patients in complete remission starting as early as the first year after treatment and are dose-dependent. Patients, particularly those who have been exposed to radiotherapy of the neck, must be followed up closely for occurrence of thyroid dysfunctions.

The efficacy of serial serum amyloid A measurements for diagnosis and follow-up of necrotizing enterocolitis in premature infants.

PURPOSE: The purpose of this study was to evaluate the efficacy of serial serum amyloid A (SAA) measurements in diagnosis and follow-up of necrotizing enterocolitis (NEC) in preterm infants. METHODS: A total of 144 infants were enrolled in this observational study. The infants were classified into three groups: group 1 (infants with NEC and sepsis), group 2 (infants with sepsis), and group 3 (no sepsis and NEC, control group). Data including serial whole blood count (WBC), SAA measurements that were obtained at the initial work-up of NEC and/or sepsis episode (0 day), at 24, 48 h, 7, and 10 day were evaluated. In addition, initial and serial follow-up abdominal radiographies were obtained. RESULTS: A total of 50 infants were diagnosed NEC. Mean SAA values (43.2 +/- 47.5 mg/dl) of infants in group 1 at 0 h were significantly higher than those in group 2 and group 3. The percentage of infants with abnormal SAA levels was significantly higher in group 1 compared with that in group 2 at 24 h. In addition, the percentage of infants with abnormal SAA levels was slightly but not statistically higher in stage 2 and stage 3 NEC group compared with that stage 1 NEC at 0, 24, 48 h. SAA levels started to decline at 48 h of onset through day 10. The cut-off value for SAA for differentiating NEC from sepsis was 23.2 mg/dl. CONCLUSION: SAA may be recognized as an accurate laboratory marker in addition to clinical and radiographic findings for NEC diagnosis. It can also be used for determining the severity of NEC and response to therapy in infants with NEC.