Thrombotic Microangiopathy with Complement Factor H Gene Mutations Unassociated with Atypical Hemolytic Uremic Syndrome
Makaleler > Tam Makale · 2015
Yazarlar: Yesim Oymak, Tuba Hilkay Karapinar, Yilmaz Ay, Esin Ozcan, Neryal Muminoglu, Sultan Aydm Koker, Ersin Toret, Afig BERDELİ, Erkin Serdaroglu, Canan Vergin
Turkish Journal of Hematology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2015, cilt 32, ss 275-276
Özet
Atipik Hemolitik Üremik Sendrom ile İlişkili Olmayan Kompleman Faktör H Gen Mutasyonları Gösteren Trombotik MikroanjiopatiTo the Editor, Atypical hemolytic uremic syndrome (aHUS) is a rare multigenic disorder characterized by thrombotic microangiopathy (TMA).Among the genes that are associated with aHUS, mutations in the complement factor H (CFH) gene are the most common genetic cause of the disease.Several specific gene mutations have been identified in patients with aHUS [1,2,3].A 5-year-old boy was admitted to our hospital with fatigue.Physical examination revealed pallor and hepatomegaly.His blood pressure was within the normal range.A blood smear showed hemolysis with 10% schistocytes and polychromasia.He had anemia with 5.5 g/ dL hemoglobin level and 14.6% reticulocyte level.He had also thrombocytopenia (48,000/mm 3 ) and elevated lactate dehydrogenase (LDH) as 1066 U/L.A direct Coombs test was negative.The other blood parameters of the patient were as follows: haptoglobin 5 mg/dL (reference range: 41-165 mg/dL), C3 122 mg/dL (reference range: 79-152 mg/dL), creatinine level 0.5 mg/dL, blood urea nitrogen 12 mg/dL, and indirect bilirubin 7 mg/dL.Urine analysis was normal.On the second day of admission, the patient's thrombocyte count dropped to 38,000/mm 3 , his LDH level remained elevated, and schistocytes were still present on his peripheral blood smear.As for the blood smear and other TMA symptoms, first plasmapheresis was started, which lasted 20 weeks.Then treatment was continued with 600 mg of eculizumab weekly for the first three weeks and followed by once every 2 weeks (total 11 doses).Although the patient had TMA symptoms he didn't have renal insufficiency.Also ADAMTS-13 activity was 48% (reference range: 40%-130%) and ADAMTS-13 antibody was negative.including specific financial interests, relationships, and/ or affliations relevant to the subject matter or materials included.