Publications by authors named "İsmail Dursun"

Article Synopsis
  • * Despite treatment and normal initial tests, she experienced recurring kidney stones and unusual urinary infections, prompting further investigation into metabolic disorders.
  • * Genetic testing ultimately revealed a mutation in the AGXT gene, leading to a diagnosis of primary hyperoxaluria type 1, highlighting the coexistence of two rare genetic conditions in the same child.
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  • HNF1B mutations are a leading genetic cause of congenital kidney and urinary tract abnormalities, prompting a study of 16 pediatric patients to better understand its clinical and genetic features.
  • The research found that 81.3% of patients had prenatal kidney abnormalities, with kidney cysts being the most prevalent, and identified missense variants as the most common genetic issues linked to these conditions.
  • The study suggests that patients with missense variants are at a greater risk for chronic kidney disease (CKD), while urinary system abnormalities like vesicoureteral reflux are also common in this group.
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  • Two devastating earthquakes in Türkiye on February 6, 2023, resulted in significant injuries to 903 children, with a focus on crush syndrome-related acute kidney injury (Crush-AKI) and mortality.
  • The study tracked various factors, including the time under rubble, treatment protocols, and patient outcomes, revealing that Crush-AKI developed in 36% of the patients, and over half required dialysis.
  • Key findings included that serum levels of creatine phosphokinase above 20,950 U/L and inadequate initial intravenous fluid volume were linked to Crush-AKI, and most deaths occurred among those with Crush-AKI within the first four days of admission.
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  • C3 glomerulopathy (C3G) is a kidney disease influenced by genetic factors, and this study explores the differences in clinical outcomes among pediatric patients with and without mutations in complement-related genes.
  • Among 60 patients studied, 17 had genetic mutations with the CFH gene being the most common; those with mutations typically showed asymptomatic urinary issues and were diagnosed at an older age.
  • Despite differences in presentation, both groups had similar long-term kidney survival and response to mycophenolate mofetil treatment, indicating that genetic mutations may not significantly impact treatment outcomes.
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  • The study looked at why doctors requested ANA tests for kids with potential autoimmune diseases and how well those tests worked.
  • Out of 3,812 kids tested, about 27% had positive ANA results, with juvenile idiopathic arthritis being the most common diagnosis.
  • The study found that the ANA test wasn't very reliable for diagnosing these diseases, so doctors should think carefully before using it.
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  • The study examined how the characteristics of hospitals and dialysis units affect hospitalizations in pediatric dialysis patients, specifically for access-related complications.
  • It found that children's hospitals (CHs) had more specialized staff and experience, leading to a higher use of automated peritoneal dialysis (APD) and hemodiafiltration (HDF) compared to general hospitals (GHs).
  • CAPD patients faced a higher hospitalization risk due to infections, but centers with more PD experience saw lower hospitalization rates for these patients, while conventional hemodialysis (cHD) increased the risk for non-infectious complications.
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  • Primary Coenzyme Q10 (CoQ) deficiency is an ultra-rare genetic disorder that often results in nephrotic syndrome and is linked to mutations in specific genes.
  • A global study of 116 patients showed that oral CoQ supplementation can lead to a significant reduction in proteinuria (by 88% at 12 months) and better preservation of kidney function over time.
  • The findings suggest that all patients with primary CoQ deficiency should receive early and long-term CoQ supplementation to slow kidney disease progression and protect other organs from damage, with few mild side effects reported.
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  • The study investigated the kidney disease profiles of Syrian refugee children in Turkey, highlighting their vulnerability and specific health issues within conflict zones.
  • Data from 633 children revealed that congenital anomalies of the kidney and urinary tract (CAKUT), glomerular disease, and chronic kidney disease (CKD) were the most common conditions, with significant demographic factors like parental consanguinity and familial history of kidney disease noted.
  • Challenges faced during follow-up included language barriers, lack of medical records, and disruptions in care, which emphasize the need for improved treatment options and preventive measures for these children.
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