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

Risk Factors for Renal Function Impairment in Childen with Meningomyelocele; a Single Center Study

Introduction: Chronic kidney disease and its complications are among the most frequent cause of morbidity and mortality in patients with meningomyelocele. Objective: In this study, we aimed to determine the risk factors leading to chronic kidney disease progression in these patients. Material and Method: Fifty patients with meningomyelocele were analyzed retrospectively. Age, gender, followup period, serum creatinine, glomerular filtration rate, vesicoureteral reflux (VUR), initial urodynamic findings and initiation time of clean intermittent catheterization (CIC) were noted. The progression of Chronic kidney disease (CKD) was evaluated by DMSA renal scintigraphy, changes in serum creatinine (Screa), and glomerular filtration rate (GFR). Results: 30 of the 50 patients were included in the study. VUR was detected in 63% of the patients, and scar was detected in 83% by renal scintigraphy. The median value of Screa was 0.5 mg/dl in admission, while the median Screa was 1.02 mg/dl (min-max: 0.27-5) at the last visit and the difference was statistically significant (p=0.001). A statistically significant was found between CKD progression and GFR in admission (p=0.001), CIC onset age (p=0.03), degree of VUR (p=0.046), presence of renal scar (p=0.002). It was shown that delay in admission (p=0.011; OR 1.36; CI 1.07-1.73) and low GFR in admission (p=0.036 OR 0.915 CI 0.842-0.994) were the most important risk factors. Conclusion: In our study, it was shown that delay in neurogenic bladder treatment, delay in the initiation of CIC, and low GFR at admission were important risk factors for the progression of CKD in children with meningomyelocele. Therefore, we aimed to emphasize the importance of regular follow-up of these children in Pediatric Nephrology Clinics from the neonatal period.</jats:p

More anxious or more shy? examining the social anxiety levels of adolescents with primary enuresis nocturna: A controlled study

IntroductionEnuresis nocturna (EN) is very common worldwide, and psychiatric disorders are 1.3-4.5 times higher in children with EN. When the authors focus on symptoms of individuals with EN, they figured out that the individuals were impaired in social and emotional skills because of the dramatic consequences of EN. The authors presume that, despite a lack of psychiatric comorbidity, primary enuresis nocturna (PEN) itself and its consequences may increase adolescents' social anxiety (SA), leading to adulthood mental diseases. Objective In this study, the authors aimed to investigate the presence of SA of adolescents with monosymptomatic PEN without any psychiatric comorbidity by comparing them with their healthy peers.MethodsThe study was composed of 56 children who applied to pediatric nephrology outpatient clinic and were diagnosed with monosymptomatic PEN and 42 healthy controls. The psychiatric diagnoses were made by a child psychiatrist, with the help of a semistructured interview (Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version, K-SADS-PL), and patients were required to fill out the Screen for Child Anxiety and Related Disorders, Social Anxiety Scale for Adolescents (SAS-A), and Children's Depression Inventory (CDI) scales with the help of a clinical psychologist. The physical examination made by a pediatric nephrologist and dysfunctional voiding and incontinence scoring system questionnaire were used to evaluate the voiding dysfunction in children.ResultsThere was no significant difference in the total depression and anxiety scores between the groups (p > 0.05). There was a significant difference between the two groups in the subscale of SA (t = 2.67 p = 0.009) (Table). Social Anxiety Scale for Adolescents (p < 0.001) and subscales of SAS-A (Fear of Negative Evaluation [p < 0.001], General Social Avoidance and Distress [p = 0.003], Social Avoidance and Distress in New Situations [p < 0.001]) scores were significantly higher in the patient group. Discussion The authors want to emphasize the comorbid SA of adolescents diagnosed with PEN. This anxiety may disturb adolescents' health in two ways: first, with the help of direct consequences of the SA and second, being late for seeking help for the EN and possible delay in EN treatments. The main limitation of this study is the assessments of the prior mental status of subjects were made by K-SADS-PL, thus remaining a recall bias. A follow-up study may be more objective.ConclusionSo all adolescents diagnosed with PEN should require a detailed mental examination to prevent further negative consequences and provide more comprehensive treatment. Also, the study needed to be repeated in larger samples, and prospective studies should be designed to enhance authors' understanding

Evaluation of Clinical and Follow-up Results of Patients with Congenital Nephrotic Syndrome

Congenital nephrotic syndrome (CNS) is characterized by severe proteinuria, hypoalbuminemia, and edema within the first three months of life. Congenital nephrotic syndrome 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. 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. 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. 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. 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 surviva</jats:p

The Efficacy and Outcomes of Renal Replacement Therapy in Pediatric Metabolic Disorders

Background/Objectives: This study aims to evaluate the efficacy and outcomes of renal replacement therapy (RRT) in pediatric patients with metabolic diseases, specifically focusing on the impact of hemodialysis (HD) and peritoneal dialysis (PD) on clinical parameters, toxin reduction, and long-term survival. Methods: This retrospective study included 10 pediatric patients (eight females and two males) treated at a pediatric nephrology department between 2020 and 2023. Patients diagnosed with metabolic disorders, including maple syrup urine disease (MSUD), methylmalonic acidemia (MMA), and glycogen storage disease (GSD), underwent RRT. Clinical data, demographic information, and biochemical parameters were collected and analyzed. Results: Among the patients, 50% were diagnosed with MSUD, 30% with MMA, and 20% with GSD. RRT, including HD and PD, was administered to manage acute metabolic crises. HD was particularly effective in rapidly reducing toxic metabolite levels. Patients treated with HD showed significant reductions in leucine and ammonium levels, with median reductions of 94.5% and 86%, respectively. Overall, 60% of the patients demonstrated long-term survival, highlighting the critical role of RRT in managing metabolic crises. In conclusion, RRT, including HD and PD, is crucial in managing pediatric metabolic disorders by effectively reducing toxic metabolite levels and improving clinical outcomes. Conclusions: The results of this study are consistent with previous research, highlighting the critical role of RRT in the acute management of metabolic crises and supporting its adoption as a standard treatment method