CFH (Complement Factor H)

A 13-month-old boy with metastatic neuroblastoma (NB) developed aHUS during his first cycle of induction chemotherapy with germline testing revealing a complement factor H (CFH) gene mutation, currently classified as a variant of uncertain significance (VUS). Now he is in disease remission after successful complement blockade therapy, thus highlighting a unique presentation of aHUS in a patient with newly diagnosed NB.

The 16.25% of dietary CAP decreased the anti-oxidative capacity of abalone. The structure of the gut microbiota of abalone changed with dietary CAP levels.

She was treated with eculizumab following 14 days of plasmapheresis...Intravitreal dexamethasone implant was administered for both eyes since there was no reasonable regression in retinal findings with bevacizumab treatment...Although ocular involvement is quite rare, we described bilateral RVO in aHUS case with homozygous nonsense mutation (c.2134 G > T p.G712). Dexamethasone implant should be considered for the treatment of RVO in aHUS cases.

The diagnosis was confirmed by renal biopsy and the patient was successfully treated with eculizumab, discontinued after full recovery...Discussion The episodes of aHUS experienced by this patient were all characterized by a mild course and the patient never required dialysis, suggesting a critical role of platelet consumption in determining the severity of the disease. Our data suggest future studies to evaluate a possible role of antiplatelet therapy in the prophylaxis of patients at risk of aHUS.

The anti C5 may adjust dose, frequency, and duration depending on aHUS disease activity. Close follow up the aHUS clinical condition, blood pressure, hemolysis marker is very important.