Malignant hypertension is listed among the causes of secondary thrombotic microangiopathy, but pathogenic mutations in complement genes have been reported in patients with hypertension-induced thrombotic microangiopathy. Here we investigated the frequency and severity of hypertension in 55 patients with primary atypical hemolytic uremic syndrome (aHUS). A genetic analysis was performed in all patients, and funduscopic examination was performed in all the patients with Grades 2 and 3 hypertension.
View Article and Find Full Text PDFFew studies are focused on the antioxidant status and its changes in anorexia nervosa (AN). Based on the hypothesis that renutrition improves that status, the aim was to determine the plasma antioxidant status and the antioxidant enzymes activity at the beginning of a personalized nutritional program (T0) and after recovering normal body mass index (BMI) (T1). The relationship between changes in BMI and biochemical parameters was determined.
View Article and Find Full Text PDFBackground: Dense-deposit disease (DDD) is a rare glomerulopathy characterized by electron-dense deposits in the glomerular basement membrane. About 50 % of patients with DDD progress to end-stage kidney disease and require dialysis within 10 years of diagnosis, and the disease often recurs after renal transplantation.
Case-diagnosis/treatment: We describe a 14-year-old girl with recurrent DDD in her transplanted kidney.
Although it has been described in adults that renal grafts in the context of CLKT have a lower number of AR episodes and improved renal allograft survival, this has never been examined in pediatrics. We performed a single center retrospective case-control study examining 10 patients aged 10+/-6 yr with a CLKT that survived the post-surgery period of six months, and compared outcomes to a group of 20 KO transplants matched for age, era, and immunosuppression. We observed a significant reduction in the incidence of AR episodes in the CLKT group.
View Article and Find Full Text PDFBackground: Mutations in the TRPC6 gene have been reported in six families with adult-onset (17-57 years) autosomal dominant focal segmental glomerulosclerosis (FSGS). Electrophysiology studies confirmed augmented calcium influx only in three of these six TRPC6 mutations. To date, the role of TRPC6 in childhood and adulthood non-familial forms is unknown.
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