Treatment of Congenital Thrombotic Thrombocytopenic Purpura With Eculizumab.

A 12-year-old boy was hospitalized for hemolytic anemia, thrombocytopenia, acute kidney injury, and generalized seizures. The childhood onset, severely decreased kidney function, absence of prodromal diarrhea, negative test results for Shiga-like toxin-producing Escherichia coli, elevated plasma levels of the terminal complement complex sC5b-9, and ex vivo testing in endothelial cells showing serum-induced complement activation were all consistent with a diagnosis of complement-mediated atypical hemolytic uremic syndrome. Before plasma ADAMTS13 (von Willebrand factor protease) activity results were available, the patient was treated with the anti-C5 monoclonal antibody eculizumab, and treatment was followed by prompt disease remission. However, results of ADAMT13 activity level tests and gene screening revealed a severe deficiency associated with 2 heterozygous mutations in the ADAMTS13 gene, fully consistent with a diagnosis of congenital thrombotic thrombocytopenic purpura. Screening for atypical hemolytic uremic syndrome-associated genes failed to show a mutation and an assay for plasma anti-factor H antibodies gave negative results both before and after eculizumab treatment initiation. The patient's clinical evolution suggests that complement activation plays a role in the pathogenesis of thrombotic thrombocytopenic purpura and provides unexpected new insights into the treatment of this life-threatening disease.

[Children on peritoneal dialysis and enteral feeding: indications and outcomes]. / Bambini in dialisi peritoneale e nutrizione enterale: indicazioni ed outcome

Despite improvements in overall prognosis, in the quality of life and in growth targets, children on peritoneal dialysis are subject to a high risk of growth retardation, especially if the disease begins in the early stages of life. In these patients, spontaneous feeding often does not provide an adequate intake of nutrients and early start of enteral nutrition needs to be considered. An intensive nutritional approach should always be established early and can be technically achieved using either a naso-gastric tube or a gastrostomy. In Italy, the first approach often involves the use of a naso-gastric tube despite epidemiological data suggesting the superiority of gastrostomy when the required outcome is improvement in growth parameters. Particular attention should be paid to the technique of gastrostomy. Despite this intensive approach, not all patients achieve the desired outcome of adequate growth probably because not all the possible mechanisms involved have yet been discovered.