Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.

The atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia and acute kidney injury (AKI), which can exhibit a poor prognosis. Complement factor H (CFH) gene mutations play a key role in this disease, which may be sporadic or familial. We studied 13 people from the same family, investigated for gene mutations of the familial aHUS after a family member presented to our emergency clinic with the aHUS and reported a family history of chronic renal failure. The p.S1191L mutation on the CFH gene was heterozygous in six people from the patient's family with the aHUS. One of these family members is our patient with acute kidney injury, and the other two are followed at the Nephrology Clinic, Medeniyat University, Goztepe Training and Research Hospital, Istanbul, Turkey, due to chronic renal failure. The other three family members showed no evidence of renal failure. The index case had a history of six sibling deaths; three died of chronic renal failure. Plasmapheresis and fresh frozen plasma treatment were administered to our patient. When the patient showed no response to this treatment, eculizumab (ECZ) therapy was started. The study demonstrated that thorough family history should be taken in patients with the aHUS. These patients may have the familial type of the disease, and they should be screened genetically. Eculizumab should be the first choice in the treatment with plasmapheresis. It should be kept in mind that the use of ECZ as prophylaxis in posttransplant therapy is extremely important for preventing rejection.

Evaluation of the association between the optic nerve sheath diameter and extracorporeal life support time during cardiac surgery in newborns.

OBJECTIVE: Congenital heart disease (CHD), a birth defect, is a major cause of neonatal mortality; however, improvements in surgical procedures and medical treatments have resulted in decreased mortality rates. Nonetheless, postoperative morbidity, particularly cerebral dysfunction, remains an issue in patients receiving extracorporeal life support (ECLS) for cardiac surgeries. Herein, we aimed to assess the association between optic nerve sheath diameter (ONSD) and ECLS time in newborns receiving ECLS for cardiac surgery. PATIENTS AND METHODS: We enrolled 25 newborn patients who received ECLS for cardiac surgery at our hospital. ONSD was measured at four different time points during the surgery: baseline (T1), 15 min after cross-clamping (T2), after displacement of cross-clamping (T3) and at the end of the surgery (T4). Furthermore, the ECLS time, aortic cross-clamp time, and surgery time were recorded. RESULTS: The regression analysis revealed a significant association between ONSD and ECLS time, cross-clamp time and surgery time. The correlation analysis showed strong associations between baseline ONSD and ONSD at T2, T3, and T4. Moreover, ONSDs significantly increased at T2 compared with those at baseline during cardiac surgery. CONCLUSIONS: Our findings suggest an association between ONSD and ECLS time in newborns receiving ECLS for cardiac surgery. Monitoring ONSD may provide valuable information about intracranial pressure changes in these patients.