caa a22 4500 445883693 CHVBK 20180317145552.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s10157-010-0375-z doi (NATIONALLICENCE)springer-10.1007/s10157-010-0375-z A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations [Elektronische Daten] [Eiji Matsukuma, Yoshimitsu Gotoh, Yoshiyuki Kuroyanagi, Takuji Yamada, Mitsuji Iwasa, Satoshi Yamakawa, Takuhito Nagai, Nobuaki Takagi, Hiromu Mae, Kenji Iijima, Elena Bresin] A 9-year-old boy with pallor and macrohematuria showed hemolytic anemia, thrombocytopenia and renal failure. There was no history of diarrhea and the stool culture was negative. A diagnosis of atypical hemolytic uremic syndrome (HUS) was confirmed; however, the cause of the prolonged activated partial thromboplastin time (APTT) was unknown. Plasma exchange and hemodialysis were performed because of progressive hemolytic anemia and renal dysfunction. Fresh frozen plasma was administered frequently to correct the prolonged APTT after hemolysis was controlled and C3 levels had recovered. Factor H (FH) and factor I (IF) levels were normal and we did not detect mutations of FH, IF and membrane cofactor protein. Further investigation revealed the presence of anti-FH antibody in the patient's plasma and a deficiency of coagulation factor XII. Analysis of the patient's coagulation system displayed <3% functional activity of factor XII, whereas levels of other coagulation factors were within the normal range. Two novel mutations (W222G and R447S) were identified upon analysis of the factor XII gene in this patient. Moreover, further investigation revealed that compound heterozygous mutations were present in two of the patient's three siblings, while the third sibling only had a mutation at W222G. The patient was treated for atypical HUS; however, no treatment was required for factor XII deficiency as he did not display a hemorrhagic tendency. We report here a rare case of atypical HUS due to anti-FH antibody presenting with a coagulation factor XII deficiency. Japanese Society of Nephrology, 2011 Atypical hemolytic uremic syndrome nationallicence Factor H nationallicence Anti-factor H antibody nationallicence Prolonged APTT nationallicence Coagulation factor XII deficiency nationallicence Matsukuma Eiji Department of Pediatrics, Gifu Prefectural General Medical Center, 4-6-1 Noishiki, 500-8717, Gifu, Japan aut Gotoh Yoshimitsu Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut Kuroyanagi Yoshiyuki Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut Yamada Takuji Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut Iwasa Mitsuji Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut Yamakawa Satoshi Department of Pediatric Nephrology, Aichi Children's Health and Medical Center, 1-2 Sakata, Morio-cho, 474-8710, Obu, Aichi, Japan aut Nagai Takuhito Department of Pediatric Nephrology, Aichi Children's Health and Medical Center, 1-2 Sakata, Morio-cho, 474-8710, Obu, Aichi, Japan aut Takagi Nobuaki Department of Pediatrics, Hyogo college of Medicine, 1-1 Mukogawa-cho, 663-8501, Nishinomiya, Japan aut Mae Hiromu Department of Pediatrics, Hyogo college of Medicine, 1-1 Mukogawa-cho, 663-8501, Nishinomiya, Japan aut Iijima Kenji Department of Pathobiological Science and Technology, School of Health Science, Faculty of Medicine, Tottori University, 86 Nishimachi, 683-8503, Yonago, Tottori, Japan aut Bresin Elena Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, 24020, Ranica (BG), Italy aut Clinical and Experimental Nephrology Springer Japan 15/2(2011-04-01), 269-274 1342-1751 15:2<269 2011 15 10157 https://doi.org/10.1007/s10157-010-0375-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-010-0375-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Matsukuma Eiji Department of Pediatrics, Gifu Prefectural General Medical Center, 4-6-1 Noishiki, 500-8717, Gifu, Japan aut NATIONALLICENCE 700 1- Gotoh Yoshimitsu Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut NATIONALLICENCE 700 1- Kuroyanagi Yoshiyuki Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut NATIONALLICENCE 700 1- Yamada Takuji Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut NATIONALLICENCE 700 1- Iwasa Mitsuji Department of Pediatrics, Nagoya Daini Red Cross Hospital-Kidney Center, 2-9 Myoken-cho, Showa-ku, 466-8650, Nagoya, Japan aut NATIONALLICENCE 700 1- Yamakawa Satoshi Department of Pediatric Nephrology, Aichi Children's Health and Medical Center, 1-2 Sakata, Morio-cho, 474-8710, Obu, Aichi, Japan aut NATIONALLICENCE 700 1- Nagai Takuhito Department of Pediatric Nephrology, Aichi Children's Health and Medical Center, 1-2 Sakata, Morio-cho, 474-8710, Obu, Aichi, Japan aut NATIONALLICENCE 700 1- Takagi Nobuaki Department of Pediatrics, Hyogo college of Medicine, 1-1 Mukogawa-cho, 663-8501, Nishinomiya, Japan aut NATIONALLICENCE 700 1- Mae Hiromu Department of Pediatrics, Hyogo college of Medicine, 1-1 Mukogawa-cho, 663-8501, Nishinomiya, Japan aut NATIONALLICENCE 700 1- Iijima Kenji Department of Pathobiological Science and Technology, School of Health Science, Faculty of Medicine, Tottori University, 86 Nishimachi, 683-8503, Yonago, Tottori, Japan aut NATIONALLICENCE 700 1- Bresin Elena Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, 24020, Ranica (BG), Italy aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/2(2011-04-01), 269-274 1342-1751 15:2<269 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer