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Background: Primary hyperoxaluria type 1 (PH1) is characterized by increased endogenous oxalate production and deposition as calcium oxalate crystals. The main manifestations are nephrocalcinosis/nephrolithiasis, causing impaired kidney function. We aimed to evaluate the clinical characteristics and overall outcomes of paediatric PH1 patients in Turkey. Methods: This is a nationwide, multicentre, retrospective study evaluating all available paediatric PH1 patients from 15 different paediatric nephrology centres in Turkey. Detailed patient data was collected which included demographic, clinical and laboratory features. Patients were classified according to their age and characteristics at presentation: patients presenting in the first year of life with nephrocalcinosis/nephrolithiasis (infantile oxalosis, Group 1), cases with recurrent nephrolithiasis diagnosed during childhood (childhood‐onset PH1, Group 2), and asymptomatic children diagnosed with family screening (Group 3). Results: Forty‐eight patients had a mutation consistent with PH1. The most common mutation was c.971_972delTG (25%). Infantile oxalosis patients had more advanced chronic kidney disease (CKD) or kidney failure necessitating dialysis (76.9% vs. 45.5%). These patients had much worse clinical course and mortality rates seemed to be higher (23.1% vs. 13.6%). Patients with fatal outcomes were the ones with significant comorbidities, especially with cardiovascular involvement. Patients in Group 3 were followed with better outcomes, with no kidney failure or mortality. Conclusion: PH1 is not an isolated kidney disease but a systemic disease. Family screening helps to preserve kidney function and prevent systemic complications. Despite all efforts made with traditional treatment methods including transplantation, our results show devastating outcomes or mortality. [ABSTRACT FROM AUTHOR]

aHUS is caused by the over‐activation and dysregulation of the alternative complement pathway. Data regarding outcomes of pediatric aHUS patients after kidney transplantation are still very scarce. Accordingly, the aim of this study was to describe the clinical findings and outcomes of pediatric aHUS patients after renal transplantation. This is a retrospective, multicenter study including 12 patients from the national registry system. Among the 12 patients, eight had received prophylactic eculizumab and none of those patients (except one) had experienced aHUS recurrence during a median follow‐up period of 58.5 (min‐max, 4‐94) months. Although eculizumab had been started on the day before transplantation in one of them, aHUS recurrence occurred during the transplantation procedure. Eculizumab had been stopped in only one patient who had no complement gene mutation after 35 months of therapy, and recurrence had not been observed during the 19 months of follow‐up. In three patients, maintenance doses had been spaced out without any recurrence. One additional patient with anti‐CFH antibody received only two doses of eculizumab for transplantation and had been followed for 46 months without aHUS recurrence. The remaining three patients had not received anti‐C5 therapy and none of those patients experienced aHUS recurrence during a median follow‐up period of 21 (min‐max, 9‐42) months. Prophylactic eculizumab is a safe and effective treatment for the prevention of aHUS recurrence. Eculizumab interval prolongation, discontinuation, and transplantation without eculizumab prophylaxis can be tried in selected patients with close follow‐up. [ABSTRACT FROM AUTHOR]

TUTAR, E.,et al.: Assessment of Ventricular Repolarization in a Large Group of Children with Early Onset DeafnessThis study examined the ECG traces of 397 deaf children (age 12.5± 2.9 years, range 6–19 years), after exclusion of cases with Jervell and Lange-Nielsen syndrome (JLNS), and compared them to those of 361 normal hearing counterparts (age 12.5± 2.7 years; range 7–18 years). An observer, who was unaware of the hearing status of the subjects, measured QT and QTc intervals and calculated dispersions of QT and QTc from standard 12-lead ECGs recorded at a speed of 25 mm/s at rest. Although the mean QT was found to be longer in deaf children than that observed in the control group (P<0.0001), the mean QTc was significantly shorter (P<0.0001). The mean heart rate was significantly lower in deaf children. When QT and QTc data were recompared after the children were grouped according to the heart rate, the observed difference became less significant or disappeared. In conclusion, there are no major abnormalities for repolarization parameters in children with congenital sensorineural deafness, when compared to hearing counterparts, if heart rates are similar. Based on these results, routine ECG screening of deaf children for repolarization abnormalities may be unnecessary unless they have a history of syncope or positive family history of syncope and/or early sudden death.(PACE 2004; 27:1217–1220) [ABSTRACT FROM AUTHOR]