Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

Subject and Family Details. The study was carried out at the Department of Hematology and Nephrology, Medeniyet University, Goztepe Training and Research Hospital, Istanbul, Turkey. After the index case was detected, it was learned that there were other patients with CRF in the family history. After the family pedigree was generated, the CFH gene mutation analyses were performed for the family (Figure 1). Accordingly, 13 individuals from the same family, father and mother of the index case, his five siblings, as well as wives and children of two of the siblings, were included in the study. The first patient presented to our emergency clinic with AKI. The patient was diagnosed with aHUS as a result of clinical and laboratory evaluations. The patient reported a history of CRF cases in other family members; two of his siblings developed recurrent CRF after they received a renal transplant; six of his siblings died, three from CRF, and one of his uncles also died from CRF; therefore, gene mutation screening of this family was performed. These results from the patient files were examined and recorded. Previous test results of the family members including the values of leukocytes, hemoglobin (Hb), packed cell volume (PCV), platelets, glucose, blood urea nitrogen (BUN), creatinine (Cr), total protein, albumin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), γ-glutamyl transferase, alkaline phosphatase, lactate dehy- drogenase (LDH), total bilirubin, peripheral smear, complement 3 (C3), complement 4 (C4), urine, protein in urine and Cr, haptoglobin, ADAMTS-13 activity, and gene mutation analysis (CFH, CFI and CD46 gene sequence analysis) were obtained and recorded from the patient files. Gene Mutation Screening. DNA was extracted from a whole blood sample using the QIA amp DNA Blood Mini Kit (Qiagen GmbH, Hilden, Germany), as previously described [15]. Exon-intron junctions of the genes CFH [16], CFI [17], CD46 [18] and CFB [19], mutations of which are responsible for aHUS, were sequenced using next-generation sequencing (NGS). A heterozygous p.S1191L (c.3572C>T) mutation, which has previously been described as a disease-associated mutation in Human Gene Mutation Database (HGMD), was found on the CFH gene. Ethics and Data Handling. The study was approved by the Medeniyet University Faculty of Medicine local Ethics Committee, Istanbul, Turkey. Before the study, in compliance with the principles of the World Medical Association Helsinki Declaration, written informed consent for publication was obtained from each family member after they were given a detailed explanation about the aims and scope of the study. In the case of children, written informed consent for publication was obtained from their parent or legal guardian. In the case of deceased family members, written informed consent for publication was obtained from their next of kin. Data were handled with respect for patient confidentiality and anonymity.

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