FAMILIAL ATYPICAL HEMOLYTIC UREMIC SYNDROME
WITH POSITIVE p.S1191L (c.3572C>T) MUTATION ON
THE CFH GENE: A SINGLE-CENTER EXPERIENCE Ersoy Dursun F1,*, Yesil G2, Sasak G3, Dursin H4 *Corresponding Author: Dr. Fadime Ersoy Dursun, Hematoloji Bilim Dalı, Istanbul Medeniyet Universitesi
Tıp Fakultesi, Dr. Erkin Cad. No. 6, 34722 Kadıköy, Istanbul, Turkiye. Tel.: +90-536-838-5101.
Fax: +90-216-606-5210. E-mail: drfadimeersoy@yahoo.com.tr page: 81 download article in pdf format
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Abstract
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.
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